The DOI matches its Crossref record; 41 of the 41 references it cites were found in a registry or an index; 10 of the 27 sources its claims cite were checked for support.
Gene Therapy in Patients with Transfusion-Dependent β-Thalassemia
Open accessAbstract
Background Donor availability and transplantation-related risks limit the broad use of allogeneic hematopoietic-cell transplantation in patients with transfusion-dependent β-thalassemia. After previously establishing that lentiviral transfer of a marked β-globin (β A-T87Q ) gene could substitute for long-term red-cell transfusions in a patient with β-thalassemia, we wanted to evaluate the safety and efficacy of such gene therapy in patients with transfusion-dependent β-thalassemia. Methods In two phase 1-2 studies, we obtained mobilized autologous CD34+ cells from 22 patients (12 to 35 years of age) with transfusion-dependent β-thalassemia and transduced the cells ex vivo with LentiGlobin BB305 vector, which encodes adult hemoglobin (HbA) with a T87Q amino acid substitution (HbA T87Q ). The cells were then reinfused after the patients had undergone myeloablative busulfan conditioning. We subsequently monitored adverse events, vector integration, and levels of replication-competent lentivirus. Efficacy assessments included levels of total hemoglobin and HbA T87Q , transfusion requirements, and average vector copy number. Results At a median of 26 months (range, 15 to 42) after infusion of the gene-modified cells, all but 1 of the 13 patients who had a non-β 0 /β 0 genotype had stopped receiving red-cell transfusions; the levels of HbA T87Q ranged from 3.4 to 10.0 g per deciliter, and the levels of total hemoglobin ranged from 8.2 to 13.7 g per deciliter. Correction of biologic…
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Claims the paper makes
10 of 27 cited sources checked · 4 supported · 0 flagged · accuracy not yet measured
The sources with a verdict support this claim; the rest weren’t checked yet, have no full text we could read, or their verdicts aren’t rated yet.
In the paper
“The risks of serious complications from transfusion-related iron toxicity and viral infections persist despite improvements in care.10,11”
§ Gene Therapy in Patients with Transfusion-Dependent β-Thalassemia > RESULTS
What the sources say
- Supportedcites [10] 10. Tubman VN, Fung EB, Vogiatzi M, et al. Guidelines for the standard monitoring of patients with thalassemia: report of the Thalassemia Longitudinal Cohort. J Pedi- atr Hematol Oncol 2015; 37(3): e162-e169. source
The Transfusion-Associated Iron Deposition section says iron overload remains a major cause of mortality despite improvements in monitoring and treatment. The Transfusion-associated infections section recommends continued viral surveillance, reports hepatitis C seropositivity, and notes that fewer young patients now seroconvert. Page numbers are unavailable in our copy. (LLM, conf=0.91)
- Not checked — no full text of the sourcecites [11] 11. Bonifazi F, Conte R, Baiardi P, et al. Pattern of complications and burden of disease in patients affected by beta thal- assemia major. Curr Med Res Opin 2017; 33: 1525-33. source
Load-bearingStrength:plain· not yet calibratedTests✓ Asserted: passes✓ Checkable: passes✓ Load-bearing: passes✓ Based: passes- Supported
The cited sources that could be checked couldn’t confirm or dispute this claim.
In the paper
“Thus, the current standard of care for patients with β-thalassemia consists of lifelong, regular red-cell transfusions and iron chelation.9”
§ Gene Therapy in Patients with Transfusion-Dependent β-Thalassemia > RESULTS
What the sources say
- Could not verifycites [9] 9. Engert A, Balduini C, Brand A, et al. The European Hematology Association Roadmap for European Hematology Re- search: a consensus document. Haemato- logica 2016; 101: 115-208. sourceExperimental — accuracy not yet measured
The Introduction mentions thalassemia as an inherited blood disease but does not describe its standard care. Searches for regular transfusions, iron chelation, and thalassemia treatment found relevant titles in the References, not a passage in the cited paper stating the claimed regimen. (LLM, conf=0.74)
Load-bearingStrength:plain· not yet calibratedTests✓ Asserted: passes✓ Checkable: passes✓ Load-bearing: passes✓ Based: passes- Could not verify
The cited sources support only part of this claim — read each source’s verdict below.
In the paper
“Limited changes in the LentiGlobin vector (HPV569 vs. BB305) did not significantly alter the expression of β A-T87Q -globin per integrated vector copy, but they contributed (along with changes in vector manufacturing) to an increase in vector titers by a factor of approximately 4. 14,24,37”
§ Gene Therapy in Patients with Transfusion-Dependent β-Thalassemia > Figure 4 (facing page). Changes in Transfusion Requirements after Gene Therapy.
What the sources say
- Partly supportedcites [14] 14. Negre O, Eggimann AV, Beuzard Y, et al. Gene therapy of the β-hemoglobin- opathies by lentiviral transfer of the β(A(T87Q))-globin gene. Hum Gene Ther 2016; 27: 148-65. sourceExperimental — accuracy not yet measured
The BB305 lentiviral vector section says BB305 is identical to HPV569 after integration except for removal of the cHS4 insulator, whose effect on transgene expression was limited. It does not report a direct comparison of βA-T87Q-globin expression per integrated vector copy or establish that the difference was statistically nonsignificant. No page number is available in our copy. (LLM, conf=0.78)
- Supportedcites [24] 24. Negre O, Bartholomae C, Beuzard Y, et al. Preclinical evaluation of efficacy and safety of an improved lentiviral vector for the treatment of β-thalassemia and sickle cell disease. Curr Gene Ther 2015; 15: 64-81. source
The Results section on primary-transplant β-thalassemia mice states that expression per vector copy was similar for BB305 and HPV569, citing in vitro studies in human CD34+ cells. The vector-design Results section also says the integrated βA-T87Q-globin expression cassette was identical in the two vectors. Page numbers are not available in our copy. (LLM, conf=0.92)
- Not matchedcites [37] 37. Walters MC, Thompson A, Hongeng S, et al. A phase 3 study to evaluate safety and efficacy of LentiGlobin gene therapy for transfusion-dependent beta-thalassemia in patients with non-beta0/beta0 geno- types: the Northstar-2 (HGB-207) trial. Haematologica 2017; 102: 335. abstract.
Couldn’t be matched to a paper in Crossref, so it can’t be checked.
Strength:plain· not yet calibratedTests✓ Asserted: passes✓ Checkable: passes? Load-bearing: unclear✓ Based: passes- Rests on an assumption: The BB305 vector is similar to the initial HPV569 vector.
- Partly supported
The cited sources support only part of this claim — read each source’s verdict below.
In the paper
“Limited changes in the LentiGlobin vector (HPV569 vs. BB305) did not significantly alter the expression of β A-T87Q -globin per integrated vector copy, but they contributed (along with changes in vector manufacturing) to an increase in vector titers by a factor of approximately 4. 14,24,37”
§ Gene Therapy in Patients with Transfusion-Dependent β-Thalassemia > Figure 4 (facing page). Changes in Transfusion Requirements after Gene Therapy.
What the sources say
- Partly supportedcites [14] 14. Negre O, Eggimann AV, Beuzard Y, et al. Gene therapy of the β-hemoglobin- opathies by lentiviral transfer of the β(A(T87Q))-globin gene. Hum Gene Ther 2016; 27: 148-65. sourceExperimental — accuracy not yet measured
The BB305 lentiviral vector section (page unavailable) reports that changes from HPV569 to BB305 increased vector titers 3–4-fold, supporting the approximate fourfold figure. The Production of lentiviral vectors section describes manufacturing, but does not say manufacturing changes contributed to that increase. (LLM, conf=0.86)
- Supportedcites [24] 24. Negre O, Bartholomae C, Beuzard Y, et al. Preclinical evaluation of efficacy and safety of an improved lentiviral vector for the treatment of β-thalassemia and sickle cell disease. Curr Gene Ther 2015; 15: 64-81. source
The Results section reports that BB305 harvest titers were approximately 3–4 times higher than HPV569 titers. The Introduction says the vector redesign also reduced the number of plasmids required for production and improved vector yield. Page numbers were not provided in our copy. (LLM, conf=0.91)
- Not matchedcites [37] 37. Walters MC, Thompson A, Hongeng S, et al. A phase 3 study to evaluate safety and efficacy of LentiGlobin gene therapy for transfusion-dependent beta-thalassemia in patients with non-beta0/beta0 geno- types: the Northstar-2 (HGB-207) trial. Haematologica 2017; 102: 335. abstract.
Couldn’t be matched to a paper in Crossref, so it can’t be checked.
Strength:plain· not yet calibratedCausal:direct· not yet calibratedTests✓ Asserted: passes✓ Checkable: passes? Load-bearing: unclear✓ Based: passes- Rests on an assumption: The BB305 vector is similar to the initial HPV569 vector.
- Partly supported
The sources with a verdict support this claim; the rest weren’t checked yet, have no full text we could read, or their verdicts aren’t rated yet.
In the paper
“The feasibility of the addition of a gene to autologous hematopoietic cells using a lentiviral vector was shown previously in a single patient with β-thalassemia who safely discontinued transfusions for more than 6 years with ongoing, sustained β A-T87Q -globin expression.14,20”
§ Gene Therapy in Patients with Transfusion-Dependent β-Thalassemia > Figure 4 (facing page). Changes in Transfusion Requirements after Gene Therapy.
What the sources say
- Supportedcites [14] 14. Negre O, Eggimann AV, Beuzard Y, et al. Gene therapy of the β-hemoglobin- opathies by lentiviral transfer of the β(A(T87Q))-globin gene. Hum Gene Ther 2016; 27: 148-65. source
Split into 2 atoms — 2 confirmed, 0 partially supported, 0 disputed, 0 misattributed, 0 unverifiable. Expand the claim to see per-atom verdicts.
- Not checked — no full text of the sourcecites [20] 20. Cavazzana-Calvo M, Payen E, Negre O, et al. Transfusion independence and HMGA2 activation after gene therapy of human β-thalassaemia. Nature 2010; 467: 318-22. source
Tests✓ Asserted: passes✓ Checkable: passes✓ Load-bearing: passes✓ Based: passes- Supported
The cited sources support only part of this claim — read each source’s verdict below.
In the paper
“A patient with a severe β E /β 0 genotype safely discontinued transfusions for more than 6 years with sustained β A-T87Q -globin expression.13,20”
§ Gene Therapy in Patients with Transfusion-Dependent β-Thalassemia > RESULTS
What the sources say
- Partly supportedcites [13] 13. Mansilla-Soto J, Riviere I, Boulad F, Sadelain M. Cell and gene therapy for the beta-thalassemias: advances and pros- pects. Hum Gene Ther 2016; 27: 295-304. sourceExperimental — accuracy not yet measured
The Phase I Clinical Trials section reports a patient whose vector-derived globin contributed to transfusion independence and whose clinically beneficial clone persisted for seven years. It does not identify that patient as having a βE/β0 genotype; it describes a β+ form of the disease. Calling the outcome unqualifiedly safe also omits the reported adverse clonal expansion, although the clone did not progress to leukemia. (LLM, conf=0.88)
- Not checked — no full text of the sourcecites [20] 20. Cavazzana-Calvo M, Payen E, Negre O, et al. Transfusion independence and HMGA2 activation after gene therapy of human β-thalassaemia. Nature 2010; 467: 318-22. source
Strength:plain· not yet calibratedSingle caseTests✓ Asserted: passes✓ Checkable: passes? Load-bearing: unclear✓ Based: passes- Partly supported
A result the paper reports from its own data — it cites no other source for it, so there is none to check. The quote shows it is in the paper.
In the paper
“The remaining 3 patients with a β 0 /β 0 genotype or two copies of the IVS1-110 mutation had not received transfusions for 14 to 20 months”
§ Gene Therapy in Patients with Transfusion-Dependent β-Thalassemia > Blood HbA T87Q Levels and Changes in Transfusion Requirements
Strength:plain· not yet calibratedn = 3Tests✓ Asserted: passes✓ Checkable: passes? Load-bearing: unclear✓ Based: passesA result the paper reports from its own data — it cites no other source for it, so there is none to check. The quote shows it is in the paper.
In the paper
“With follow-up extending to 3 years (median, 26 months) after infusion, no serious adverse events related to the drug product have been detected, and there were no significant unexpected safety issues.”
§ Gene Therapy in Patients with Transfusion-Dependent β-Thalassemia > Figure 4 (facing page). Changes in Transfusion Requirements after Gene Therapy.
Tests✓ Asserted: passes✓ Checkable: passes✓ Load-bearing: passes✓ Based: passesA result the paper reports from its own data — it cites no other source for it, so there is none to check. The quote shows it is in the paper.
In the paper
“With follow-up extending to 3 years (median, 26 months) after infusion, no serious adverse events related to the drug product have been detected, and there were no significant unexpected safety issues.”
§ Gene Therapy in Patients with Transfusion-Dependent β-Thalassemia > Figure 4 (facing page). Changes in Transfusion Requirements after Gene Therapy.
Tests✓ Asserted: passes✓ Checkable: passes✓ Load-bearing: passes✓ Based: passesA result the paper reports from its own data — it cites no other source for it, so there is none to check. The quote shows it is in the paper.
In the paper
“and red-cell transfusions were discontinued in 3 patients.”
§ Gene Therapy in Patients with Transfusion-Dependent β-Thalassemia > RESULTS
Tests✓ Asserted: passes✓ Checkable: passes✓ Load-bearing: passes✓ Based: passes
- Probably not a substantial claim. 5
- It may state two separate claims as one. 30
The cited sources support only part of this claim — read each source’s verdict below.
In the paper
“whereas an earlier study at Memorial Sloan Kettering Cancer Center was suspended to allow for testing of a revised lentiviral vector.13”
§ Gene Therapy in Patients with Transfusion-Dependent β-Thalassemia > Figure 4 (facing page). Changes in Transfusion Requirements after Gene Therapy.
What the sources say
- Partly supportedcites [13] 13. Mansilla-Soto J, Riviere I, Boulad F, Sadelain M. Cell and gene therapy for the beta-thalassemias: advances and pros- pects. Hum Gene Ther 2016; 27: 295-304. sourceExperimental — accuracy not yet measured
The Phase I Clinical Trials section describes the New York trial and says the authors planned to resume it with a modified lentiviral vector containing an added safety element. That supports a pause and a planned vector revision, but the paper does not say the trial was suspended to allow testing of the revised vector. (LLM, conf=0.84)
Strength:plain· not yet calibratedCausal:direct· not yet calibratedTests✓ Asserted: passes✓ Checkable: passes✗ Load-bearing: fails✓ Based: passesProbably not a substantial claim. The paper’s conclusions may not depend on it.
- Partly supported
The cited sources support only part of this claim — read each source’s verdict below.
In the paper
“Another phase 1/2 study of lentiviral vectormediated gene therapy in patients with β-thalassemia is ongoing in Italy and has shown reductions in transfusion requirements, 14”
§ Gene Therapy in Patients with Transfusion-Dependent β-Thalassemia > Figure 4 (facing page). Changes in Transfusion Requirements after Gene Therapy.
What the sources say
- Partly supportedcites [14] 14. Negre O, Eggimann AV, Beuzard Y, et al. Gene therapy of the β-hemoglobin- opathies by lentiviral transfer of the β(A(T87Q))-globin gene. Hum Gene Ther 2016; 27: 148-65. sourceExperimental — accuracy not yet measured
The Introduction’s Table 2 identifies an ongoing phase I/II lentiviral gene-therapy study for β-thalassemia in Italy. It reports only that the first patient was recently treated, not a reduction in transfusion requirements; the decrease it reports belongs to a separate US trial. (LLM, conf=0.88)
Strength:plain· not yet calibratedCausal:direct· not yet calibratedTests✓ Asserted: passes✓ Checkable: passes? Load-bearing: unclear✓ Based: passesIt may state two separate claims as one.
- Partly supported
The paper states this without a source or data behind it here, so there is nothing to check it against. The quote shows it is in the paper.
In the paper
“The preenrollment transfusion requirement, spleen status, and age were not observed to have an effect on the study outcome.”
§ Gene Therapy in Patients with Transfusion-Dependent β-Thalassemia > Figure 4 (facing page). Changes in Transfusion Requirements after Gene Therapy.
Strength:plain· not yet calibratedTests✓ Asserted: passes✓ Checkable: passes? Load-bearing: unclear✓ Based: passesIt may state two separate claims as one.
A result the paper reports from its own data — it cites no other source for it, so there is none to check. The quote shows it is in the paper.
In the paper
“At the last study visit (12 to 36 months after infusion), the median HbA T87Q level was 6.0 g per deciliter (range, 3.4 to 10.0), and the median total hemoglobin level was 11.2 g per deciliter (range, 8.2 to 13.7)”
§ Gene Therapy in Patients with Transfusion-Dependent β-Thalassemia > Blood HbA T87Q Levels and Changes in Transfusion Requirements
Tests✓ Asserted: passes✓ Checkable: passes✓ Load-bearing: passes✓ Based: passesIt may state two separate claims as one.
A result the paper reports from its own data — it cites no other source for it, so there is none to check. The quote shows it is in the paper.
In the paper
“neutrophil engraftment occurred within a median of 18.5 days (range, 14.0 to 30.0) in HGB-204 and 16.5 days (range, 14.0 to 29.0) in HGB-205.”
§ Gene Therapy in Patients with Transfusion-Dependent β-Thalassemia > Hematopoietic Recovery and Gene Marking of Blood Cells
Strength:plain· not yet calibratedTests✓ Asserted: passes✓ Checkable: passes? Load-bearing: unclear✓ Based: passesIt may state two separate claims as one.
A result the paper reports from its own data — it cites no other source for it, so there is none to check. The quote shows it is in the paper.
In the paper
“At the most recent follow-up (12 to 30 months), the patients' HbA T87Q level ranged from 6.6 to 8.2 g per deciliter, and the total hemoglobin level ranged from 8.3 to 10.2 g per deciliter.”
§ Gene Therapy in Patients with Transfusion-Dependent β-Thalassemia > Blood HbA T87Q Levels and Changes in Transfusion Requirements
Load-bearingStrength:plain· not yet calibratedTests✓ Asserted: passes✓ Checkable: passes✓ Load-bearing: passes✓ Based: passesIt may state two separate claims as one.
A result the paper reports from its own data — it cites no other source for it, so there is none to check. The quote shows it is in the paper.
In the paper
“Patient 1121, who had a vector copy number of 0.3 in the drug product, had a blood vector copy number of 0.10 at the last follow-up and continued to receive red-cell transfusions.”
§ Gene Therapy in Patients with Transfusion-Dependent β-Thalassemia > Blood HbA T87Q Levels and Changes in Transfusion Requirements
Strength:plain· not yet calibratedSingle caseTests✓ Asserted: passes✓ Checkable: passes? Load-bearing: unclear✓ Based: passesIt may state two separate claims as one.
The paper states this without a source or data behind it here, so there is nothing to check it against. The quote shows it is in the paper.
In the paper
“After receiving the drug product, Patient 1003 had received no red-cell transfusions during year 2 through year 8 while maintaining a total hemoglobin level of approximately 8 g per deciliter.”
§ Gene Therapy in Patients with Transfusion-Dependent β-Thalassemia > Safety
Strength:plain· not yet calibratedSingle caseTests✓ Asserted: passes✓ Checkable: passes? Load-bearing: unclear✓ Based: passesIt may state two separate claims as one.
A result the paper reports from its own data — it cites no other source for it, so there is none to check. The quote shows it is in the paper.
In the paper
“During year 9 through year 12, the patient resumed sporadic transfusions, although the HbA T87Q levels had remained stable above 2 g per deciliter since month 18 20”
§ Gene Therapy in Patients with Transfusion-Dependent β-Thalassemia > Safety
Strength:plain· not yet calibratedSingle caseTests✓ Asserted: passes✓ Checkable: passes? Load-bearing: unclear✓ Based: passesIt may state two separate claims as one.
A result the paper reports from its own data — it cites no other source for it, so there is none to check. The quote shows it is in the paper.
In the paper
“At the time of this report (year 12), the HMGA2 locus was no longer dominant in Patient 1003 and had not been associated with serious adverse events.”
§ Gene Therapy in Patients with Transfusion-Dependent β-Thalassemia > Safety
Tests✓ Asserted: passes✓ Checkable: passes✓ Load-bearing: passes✓ Based: passesIt may state two separate claims as one.
A result the paper reports from its own data — it cites no other source for it, so there is none to check. The quote shows it is in the paper.
In the paper
“In HGB-205, in an exploratory analysis that was performed among patients who had stopped receiving red-cell transfusions after gene therapy, the degree of hemolysis at first stabilized relative to pretransplantation levels and was fully corrected in Patients 1201 and 1202 by 36 months after treatment”
§ Gene Therapy in Patients with Transfusion-Dependent β-Thalassemia > Effect on Hemolysis and Dyserythropoiesis
Strength:plain· not yet calibratedTests✓ Asserted: passes✓ Checkable: passes? Load-bearing: unclear✓ Based: passesIt may state two separate claims as one.
The paper states this without a source or data behind it here, so there is nothing to check it against. The quote shows it is in the paper.
In the paper
“BB305 and other lentiviral vectors have been used in more than 50 patients thus far without vector-related adverse events.”
§ Gene Therapy in Patients with Transfusion-Dependent β-Thalassemia > Figure 4 (facing page). Changes in Transfusion Requirements after Gene Therapy.
Strength:plain· not yet calibratedn = 50Tests✓ Asserted: passes✓ Checkable: passes? Load-bearing: unclear✓ Based: passesIt may state two separate claims as one.
A result the paper reports from its own data — it cites no other source for it, so there is none to check. The quote shows it is in the paper.
In the paper
“The median vector copy number at 15 months was 0.3 copies per diploid genome (range, 0.1 to 0.9) in HGB-204 and 2.0 copies per diploid genome (range, 0.3 to 4.2) in HGB-205.”
§ Gene Therapy in Patients with Transfusion-Dependent β-Thalassemia > Hematopoietic Recovery and Gene Marking of Blood Cells
Strength:plain· not yet calibratedTests✓ Asserted: passes✓ Checkable: passes? Load-bearing: unclear✓ Based: passesIt may state two separate claims as one.
A result the paper reports from its own data — it cites no other source for it, so there is none to check. The quote shows it is in the paper.
In the paper
“At 12 months after infusion, the median number of unique integration sites was 1646 per patient (range, 202 to 5501) in HGB-204 and 5322 (range, 756 to 8685) in HGB-205.”
§ Gene Therapy in Patients with Transfusion-Dependent β-Thalassemia > Safety
Load-bearingStrength:plain· not yet calibratedTests✓ Asserted: passes✓ Checkable: passes✓ Load-bearing: passes✓ Based: passesIt may state two separate claims as one.
A result the paper reports from its own data — it cites no other source for it, so there is none to check. The quote shows it is in the paper.
In the paper
“with steady-state hemoglobin levels of at least 9 g per deciliter (>8 g per deciliter in Patient 1118)”
§ Gene Therapy in Patients with Transfusion-Dependent β-Thalassemia > Figure 4 (facing page). Changes in Transfusion Requirements after Gene Therapy.
Strength:plain· not yet calibratedn = 12Tests✓ Asserted: passes✓ Checkable: passes? Load-bearing: unclear✓ Based: passesIt may state two separate claims as one.
A result the paper reports from its own data — it cites no other source for it, so there is none to check. The quote shows it is in the paper.
In the paper
“Of the 22 treated patients, 7 expressed at least 8 g per deciliter of HbA T87Q , including 3 patients with a β 0 /β 0 genotype or the severe IVS1-110 mutation; all have been free from transfusion for more than 1 year.”
§ Gene Therapy in Patients with Transfusion-Dependent β-Thalassemia > Figure 4 (facing page). Changes in Transfusion Requirements after Gene Therapy.
Tests✓ Asserted: passes✓ Checkable: passes✓ Load-bearing: passes✓ Based: passesIt may state two separate claims as one.
A result the paper reports from its own data — it cites no other source for it, so there is none to check. The quote shows it is in the paper.
In the paper
“In addition, Patient 1118 received a single transfusion 13 months after drug product infusion during an acute viral illness.”
§ Gene Therapy in Patients with Transfusion-Dependent β-Thalassemia > Blood HbA T87Q Levels and Changes in Transfusion Requirements
Strength:plain· not yet calibratedSingle caseTests✓ Asserted: passes✓ Checkable: passes✗ Load-bearing: fails✓ Based: passesProbably not a substantial claim. The paper’s conclusions may not depend on it.
A result the paper reports from its own data — it cites no other source for it, so there is none to check. The quote shows it is in the paper.
In the paper
“Nine serious adverse events were reported, including two episodes of veno-occlusive liver disease attributed to busulfan conditioning.”
§ Gene Therapy in Patients with Transfusion-Dependent β-Thalassemia > Safety
Strength:plain· not yet calibratedCausal:direct· not yet calibratedTests✓ Asserted: passes✓ Checkable: passes? Load-bearing: unclear✓ Based: passesIt may state two separate claims as one.
A result the paper reports from its own data — it cites no other source for it, so there is none to check. The quote shows it is in the paper.
In the paper
“Of the 22 patients who were treated, 13 had a non-β 0 /β 0 genotype.Of these 13 patients, all but 1 stopped receiving red-cell transfusions after gene therapy.”
§ Gene Therapy in Patients with Transfusion-Dependent β-Thalassemia > Blood HbA T87Q Levels and Changes in Transfusion Requirements
Tests✓ Asserted: passes✓ Checkable: passes✓ Load-bearing: passes✓ Based: passesIt may state two separate claims as one.
A result the paper reports from its own data — it cites no other source for it, so there is none to check. The quote shows it is in the paper.
In the paper
“In the 2 years before study enrollment, the median annual red-cell transfusion volume was 164 ml per kilogram per year (range, 124 to 261), which included 183 ml per kilogram per year in the 8 patients with a β 0 /β 0 genotype and 147 ml per kilogram per year in the 10 patients with other genotypes.”
§ Gene Therapy in Patients with Transfusion-Dependent β-Thalassemia > Characteristics of the Patients
Strength:plain· not yet calibratedn = 8Tests✓ Asserted: passes✓ Checkable: passes? Load-bearing: unclear✓ Based: passesIt may state two separate claims as one.
A result the paper reports from its own data — it cites no other source for it, so there is none to check. The quote shows it is in the paper.
In the paper
“Platelet engraftment occurred within a median of 39.5 days (range, 19.0 to 191.0) in HGB-204 and 23.0 days (range, 20.0 to 26.0) in HGB-205, during which time there were no bleeding complications resulting in serious adverse events.”
§ Gene Therapy in Patients with Transfusion-Dependent β-Thalassemia > Hematopoietic Recovery and Gene Marking of Blood Cells
Strength:plain· not yet calibratedTests✓ Asserted: passes✓ Checkable: passes? Load-bearing: unclear✓ Based: passesIt may state two separate claims as one.
A result the paper reports from its own data — it cites no other source for it, so there is none to check. The quote shows it is in the paper.
In the paper
“Such discontinuation of treatment was reported in Patient 1202, who is no longer receiving iron chelation therapy and who completed phlebotomy 36 months after gene therapy.”
§ Gene Therapy in Patients with Transfusion-Dependent β-Thalassemia > Effect on Hemolysis and Dyserythropoiesis
Strength:plain· not yet calibratedSingle caseTests✓ Asserted: passes✓ Checkable: passes? Load-bearing: unclear✓ Based: passesIt may state two separate claims as one.
The paper states this without a source or data behind it here, so there is nothing to check it against. The quote shows it is in the paper.
In the paper
“In the current studies, genomewide mapping of chromosomal sites of vector integration showed a highly polyclonal pattern with no dominance observed.”
§ Gene Therapy in Patients with Transfusion-Dependent β-Thalassemia > Figure 4 (facing page). Changes in Transfusion Requirements after Gene Therapy.
Load-bearingStrength:plain· not yet calibratedTests✓ Asserted: passes✓ Checkable: passes✓ Load-bearing: passes✓ Based: passesIt may state two separate claims as one.
A result the paper reports from its own data — it cites no other source for it, so there is none to check. The quote shows it is in the paper.
In the paper
“In several treated patients, hemoglobin levels reached or approached normal ranges, thereby correcting dyserythropoiesis.”
§ Gene Therapy in Patients with Transfusion-Dependent β-Thalassemia > Figure 4 (facing page). Changes in Transfusion Requirements after Gene Therapy.
Tests✓ Asserted: passes✓ Checkable: passes✓ Load-bearing: passes✓ Based: passesIt may state two separate claims as one.
A result the paper reports from its own data — it cites no other source for it, so there is none to check. The quote shows it is in the paper.
In the paper
“One patient also had normalization of iron overload and was able to discontinue both iron chelation and therapeutic phlebotomy.”
§ Gene Therapy in Patients with Transfusion-Dependent β-Thalassemia > Figure 4 (facing page). Changes in Transfusion Requirements after Gene Therapy.
Strength:plain· not yet calibratedSingle caseTests✓ Asserted: passes✓ Checkable: passes? Load-bearing: unclear✓ Based: passesIt may state two separate claims as one.
In the paper
“Donor availability and transplantation-related risks limit the broad use of allogeneic hematopoietic-cell transplantation in patients with transfusion-dependent β-thalassemia.”
- Also stated in: § RESULTS · plain
“The only potentially curative option for β-thalassemia is allogeneic hematopoietic-cell transplantation, but owing to risks of graft rejection, graft-versus-host disease, and other treatment-related toxic effects, transplantation is primarily reserved for young children with an HLA-identical sibling donor.[6][7][8]”
§ Gene Therapy in Patients with Transfusion-Dependent β-Thalassemia > Abstract
What the sources say
- Not matchedcites [6][7][8]
Couldn’t be matched to a paper in Crossref, so it can’t be checked.
Tests✓ Asserted: passes✓ Checkable: passes✓ Load-bearing: passes✓ Based: passesIt may state two separate claims as one.
- Also stated in: § RESULTS · plain
In the paper
“Vector-encoded β A-T87Q -globin was engineered with a single amino acid substitution (T87Q) that strongly inhibits the polymerization of sickle hemoglobin in patients with sickle cell disease and also permits precise quantification of vector-derived therapeutic globin expression in vivo.23”
§ Gene Therapy in Patients with Transfusion-Dependent β-Thalassemia > RESULTS
What the sources say
- Not checked — no full text of the sourcecites [23] 23. Takekoshi KJ, Oh YH, Westerman KW, London IM, Leboulch P. Retroviral trans- fer of a human beta-globin/delta-globin hybrid gene linked to beta locus control region hypersensitive site 2 aimed at the gene therapy of sickle cell disease. Proc Natl Acad Sci U S A 1995; 92: 3014-8. source
Strength:boosted· not yet calibratedCausal:direct· not yet calibratedTests✓ Asserted: passes✓ Checkable: passes? Load-bearing: unclear✓ Based: passesIt may state two separate claims as one.
What the paper did — it cites no source for this, so there is none to check. The quote shows it is in the paper.
In the paper
“The treatment population, which included all the patients who had received the LentiGlobin BB305 drug product, was the primary population for this interim analysis, and data were analyzed separately for each study.”
§ Gene Therapy in Patients with Transfusion-Dependent β-Thalassemia > Statistical Analysis
Load-bearingStrength:plain· not yet calibratedTests✓ Asserted: passes✓ Checkable: passes✓ Load-bearing: passes✓ Based: passesProbably not a substantial claim. It may state two separate claims as one.
What the paper did — it cites no source for this, so there is none to check. The quote shows it is in the paper.
In the paper
“Independent data and safety monitoring committees regularly reviewed safety data.”
§ Gene Therapy in Patients with Transfusion-Dependent β-Thalassemia > Study Oversight
Strength:plain· not yet calibratedTests✓ Asserted: passes✓ Checkable: passes✗ Load-bearing: fails✓ Based: passesProbably not a substantial claim. The paper’s conclusions may not depend on it.
A conclusion the paper draws from its own results — it cites no other source for it, so there is none to check. The quote shows it is in the paper.
In the paper
“even the partial reduction in transfusion requirements that we observed in these patients may result in a reduction in iron loading (and thereby long-term damage to target organs) and in increased life expectancy.”
§ Gene Therapy in Patients with Transfusion-Dependent β-Thalassemia > Figure 4 (facing page). Changes in Transfusion Requirements after Gene Therapy.
Tests✓ Asserted: passes✓ Checkable: passes✓ Load-bearing: passes✓ Based: passesIt may state two separate claims as one.
In the paper
“In addition, two other protocol-related features may have had an effect on efficacy: an enhanced series of red-cell transfusions before harvesting of CD34+ cells to mitigate the dilution of hematopoietic-cell targets in the expanded erythroid CD34+ cell compartment in patients with β-thalassemia and monitoring of plasma busulfan con-centrations with dose adjustments to optimize myeloablation.30”
§ Gene Therapy in Patients with Transfusion-Dependent β-Thalassemia > Figure 4 (facing page). Changes in Transfusion Requirements after Gene Therapy.
What the sources say
- Not matchedcites [30] 30. Bourget P, Falaschi L, Suarez F, et al. A medical-pharmaceutical partnership model as a contributor to the success in conditioning regimen for allogenic hema- topoietic stem cell transplantation in adults: a cross-reflection on our organizations. Bull Cancer 2012; 99: 643-53. (In French.)
Couldn’t be matched to a paper in Crossref, so it can’t be checked.
Strength:hedged· not yet calibratedCausal:conditional· not yet calibratedTests✓ Asserted: passes✓ Checkable: passes? Load-bearing: unclear✓ Based: passesIt may state two separate claims as one.
- Not matched
A conclusion the paper draws from its own results — it cites no other source for it, so there is none to check. The quote shows it is in the paper.
In the paper
“Below 8.5 g per deciliter, ineffective erythropoiesis was maintained and hepcidin repressed”
§ Gene Therapy in Patients with Transfusion-Dependent β-Thalassemia > Figure 4 (facing page). Changes in Transfusion Requirements after Gene Therapy.
Strength:plain· not yet calibratedCausal:correlational· not yet calibratedTests✓ Asserted: passes✓ Checkable: passes? Load-bearing: unclear✓ Based: passesIt may state two separate claims as one.
A conclusion the paper draws from its own results — it cites no other source for it, so there is none to check. The quote shows it is in the paper.
In the paper
“At values of more than 9.5 g per deciliter of hemoglobin, the erythroid mass was reduced and peripheral iron control was restored by hepcidin.”
§ Gene Therapy in Patients with Transfusion-Dependent β-Thalassemia > Figure 4 (facing page). Changes in Transfusion Requirements after Gene Therapy.
Tests✓ Asserted: passes✓ Checkable: passes✓ Load-bearing: passes✓ Based: passesIt may state two separate claims as one.
A conclusion the paper draws from its own results — it cites no other source for it, so there is none to check. The quote shows it is in the paper.
In the paper
“The number of patients who were treated remains relatively small, so extended follow-up is required to establish the durability of transduction hematopoietic stem cells and progenitor cells after a single infusion.”
§ Gene Therapy in Patients with Transfusion-Dependent β-Thalassemia > Figure 4 (facing page). Changes in Transfusion Requirements after Gene Therapy.
Load-bearingStrength:plain· not yet calibratedTests✓ Asserted: passes✗ Checkable: fails✓ Load-bearing: passes✓ Based: passesProbably not a substantial claim. It may be too vague to check against evidence.
The paper relies on this without support.
A limited number of vector integration sites may suggest clonal outgrowth, a potential precursor to oncogenesis.
“The observation of a limited number of integration sites may suggest clonal outgrowth, a potential precursor to oncogenesis.”
The paper relies on this without support.
A histocompatible donor is lacking for allogeneic hematopoietic-cell transplantation.
“which is a lack of a histocompatible donor.”
The paper relies on this without support.
The theoretical possibility of genotoxicity by semirandom vector integration in the genome remains.
“Although the theoretical possibility of genotoxicity by semirandom vector integration in the genome remains”
The paper relies on this without support.
The clinical severity of the homozygous IVS1-110 mutation mirrors that of patients with a β0/β0 genotype.
“the patient with two copies of the IVS1-110 mutation, in whom the clinical severity mirrored that of patients with a β 0 /β 0 genotype”
The paper relies on this without support.
The threshold HbA T87Q level necessary for discontinuation of red-cell transfusion is higher in the absence of endogenous production of β-like globin chains.
“for whom the threshold HbA T87Q level that was necessary for discontinuation of red-cell transfusion was higher in the absence of endogenous production of β-like globin chains”
The paper relies on this without support.
The BB305 vector is similar to the initial HPV569 vector.
“a lentiviral vector (BB305) that is similar to our initial HPV569 vector.”
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
The source backs part of the claim, not all of it — or backs it for a different population, condition or comparison.
In the citing paper
“In a phase 1/2 study, a similar HbA T87Q -lentiviral construct was introduced into autologous CD34 1 stem and progenitor cells that were infused into myeloablated patients with severe forms b thalassemia.The requirement for chronic transfusion was reduced or eliminated in all patients.116”
From Fetal hemoglobin in sickle cell anemia (2020) · cites this paper as [116]
Experimental — accuracy not yet measuredThe cited source says what the claim attributes to it.
In the citing paper
“Betibeglogene autotemcel, a lentiviral vector-based gene-addition product, is approved in the European Union for the treatment of patients with TDT who have non-β 0 mutations and who do not have a matched sibling donor 14 and is being studied in patients with β 0 /β 0 TDT genotypes and in those with SCD.15,16”
From CRISPR-Cas9 Gene Editing for Sickle Cell Disease and β-Thalassemia (2021) · cites this paper as [15]
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
Each contradiction between two passages listed here was confirmed by an independent check.
A patient counted as transfusion-free was still receiving transfusions
MajorThe discussion says all seven patients with HbA T87Q of at least 8 g/dl had been free from transfusion for more than a year. Table 2 lists Patient 1103 at 8.7 g/dl but says the patient was still receiving transfusions.
“Of the 22 treated patients, 7 expressed at least 8 g per deciliter of HbA T87Q , including 3 patients with a β 0 /β 0 genotype or the severe IVS1-110 mutation; all have been free from transfusion for more than 1 year.”
“1103 β 0 /β 0 24 8.7 9.8 Yes NA”
Table 2 footnote gives a range incompatible with listed visit times
MinorThe footnote says the listed values were obtained 15 to 42 months after infusion, but Table 2 includes a last study visit at 12 months.
“* Listed are the values a median of 26 months (range, 15 to 42) after drug product infusion.”
“1123 β 0 /β 0 12 6.8 10.2No 13.5”
Citations
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Self-citation
Flagged first, then by citations
Research works printed but not linked: 1
- Walters MC, Thompson A, Hongeng S, et al. A phase 3 study to evaluate safety and efficacy of LentiGlobin gene therapy for transfusion-dependent beta-thalassemia in patients with non-beta0/beta0 genotypes: the Northstar-2 (HGB-207) trial. Haematologica 2017;102:335-335. abstract.
Cited by
Sorted by citations
Items 201–300 of 681
A primer to gene therapy: Progress, prospects, and problems
Zittersteijn, H. A., Gonçalves, M. A. F. V., & Hoeben, R. C. (2020) · Journal of Inherited Metabolic Disease · doi:10.1002/jimd.12270 · Cited by 28
Genome editing using CRISPR/Cas9 to treat hereditary hematological disorders
Chen, Y., Wen, R., Yang, Z., & Chen, Z. (2021) · Gene Therapy · doi:10.1038/s41434-021-00247-9 · Cited by 29
Genome editing approaches to β-hemoglobinopathies
Brusson, M., & Miccio, A. (2021) · Progress in molecular biology and translational science · doi:10.1016/bs.pmbts.2021.01.025 · Cited by 29
Editing outside the body: Ex vivo gene-modification for β-hemoglobinopathy cellular therapy
Rosanwo, T. O., & Bauer, D. E. (2021) · Molecular Therapy · doi:10.1016/j.ymthe.2021.10.002 · Cited by 30
Liu, B., Brendel, C., Vinjamur, D. S., Zhou, Y., Harris, C. E., McGuinness, M. K., Manis, J. P., Bauer, D. E., Xu, H., & Williams, D. A. (2022) · Molecular Therapy · doi:10.1016/j.ymthe.2022.05.002 · Cited by 29
Survival and late effects of hematopoietic cell transplantation in patients with thalassemia major
Santarone, S., Angelini, S., Natale, A., Vaddinelli, D., Spadano, R., Casciani, P., Papola, F., Lembo, E. D., Iannetti, G., & Bartolomeo, P. D. (2022) · Bone Marrow Transplantation · doi:10.1038/s41409-022-01786-4 · Cited by 29
Precision Editing as a Therapeutic Approach for β-Hemoglobinopathies
Paschoudi, K., Yannaki, E., & Psatha, N. (2023) · International Journal of Molecular Sciences · doi:10.3390/ijms24119527 · Cited by 30
Peeling back the layers of immunogenicity in Cas9-based genomic medicine
Stigzelius, V., Cavallo, A. L., Chandode, R. K., & Nitsch, R. (2025) · Molecular Therapy · doi:10.1016/j.ymthe.2025.06.045 · Cited by 30
Advances in the gene therapy of monogenic blood cell diseases
Bueren, J. A., Bustamante, O. Q., Almarza, E., Navarro, S., Rı́o, P., Segovia, J. C., & Güenechea, G. (2019) · Clinical Genetics · doi:10.1111/cge.13593 · Cited by 28
Bustamante, O. Q., Fañanas-Baquero, S., Orman, I., Torres-Ruiz, R., Duchateau, P. N., Poirot, L., Gouble, A., Bueren, J. A., & Segovia, J. C. (2019) · PLoS ONE · doi:10.1371/journal.pone.0223775 · Cited by 26
The transformative potential of HSC gene therapy as a genetic medicine
Sagoo, P., & Gaspar, H. B. (2021) · Gene Therapy · doi:10.1038/s41434-021-00261-x · Cited by 27
Hematopoietic stem cell gene therapy: The optimal use of lentivirus and gene editing approaches
Lamsfus‐Calle, A., Daniel-Moreno, A., Ureña-Bailén, G., Raju, J., Antony, J. S., Handgretinger, R., & Mezger, M. (2019) · Blood Reviews · doi:10.1016/j.blre.2019.100641 · Cited by 29
Hurdles to healing: Overcoming cellular barriers for viral and nonviral gene therapy
Honrath, S., Burger, M., & Leroux, J. (2025) · International Journal of Pharmaceutics · doi:10.1016/j.ijpharm.2025.125470 · Cited by 28
Nualkaew, T., Khamphikham, P., Pongpaksupasin, P., Kaewsakulthong, W., Songdej, D., Paiboonsukwong, K., Sripichai, O., Engel, J. D., Hongeng, S., Fucharoen, S., et al. (2020) · Annals of Hematology · doi:10.1007/s00277-020-04136-w · Cited by 21
“appears to be more promising [6], but it is unlikely to be widely applied, again due to clinical accessibility.”
BackgroundSelf-citationWang, F., Ling, L., & Yu, D. (2021) · The American Journal of the Medical Sciences · doi:10.1016/j.amjms.2021.02.011 · Cited by 27
Ferraresi, M., Panzieri, D. L., Leoni, S., Cappellini, M. D., Kattamis, A., & Motta, I. (2023) · European Journal of Pediatrics · doi:10.1007/s00431-023-04900-w · Cited by 31
“The level of integration (vector copy numbers, VCN) proved to be insufficient at achieving TI for most of the β0/β0 adults, but a conspicuous reduction in transfusion burden was reached [86].”
BackgroundScala, S., Ferrua, F., Ricci, L. B., Dionisio, F., Omrani, M., Quaranta, P., Hernández, R. J., Core, L. D., Benedicenti, F., Monti, I., et al. (2023) · Nature Communications · doi:10.1038/s41467-023-38448-y · Cited by 25
“MPB is widely employed as HSPC source for ex vivo gene-correction approaches and HSCT 10,30,31,53,54 .”
CRISPR-Cas9 in Alzheimer’s disease: Therapeutic trends, modalities, and challenges
Chacko, L., Chaudhary, A., Singh, B., Dewanjee, S., & Kandimalla, R. J. L. (2023) · Drug Discovery Today · doi:10.1016/j.drudis.2023.103652 · Cited by 25
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“Overall, based on the prediction power of the in vitro and in vivo tests used in our study, the safety profile of the GLOBE-AS3 vector appears comparable with that of any other clinical LV. Combined with an accurate selection of the target cell population, state-ofthe-art cell processing, and a patient conditioning re…”
BackgroundMethodInfluentialCURING HEMOGLOBINOPATHIES: CHALLENGES AND ADVANCES OF CONVENTIONAL AND NEW GENE THERAPY APPROACHES.
Motta, I., Ghiaccio, V., Cosentino, A., & Breda, L. (2019) · Mediterranean Journal of Hematology and Infectious Diseases · doi:10.4084/mjhid.2019.067 · Cited by 25
In-Vivo Gene Therapy with Foamy Virus Vectors
Rajawat, Y. S., Humbert, O., & Kiem, H. (2019) · Viruses · doi:10.3390/v11121091 · Cited by 27
“Despite the undeniable therapeutic benefits offered by HSPCs gene therapy treatment for various monogenetic disorders such as hemoglobinopathies [36,37], primary”
BackgroundHemoglobin Bart’s hydrops fetalis: charting the past and envisioning the future
Amid, A., Liu, S., Babbs, C., & Higgs, D. R. (2024) · Blood · doi:10.1182/blood.2023023692 · Cited by 25
Lidonnici, M. R., Paleari, Y., Tiboni, F., Mandelli, G., Rossi, C., Vezzoli, M., Aprile, A., Lederer, C. W., Ambrosi, A., Chanut, F. J.-A., et al. (2018) · Molecular Therapy — Methods & Clinical Development · doi:10.1016/j.omtm.2018.09.001 · Cited by 25
“Furthermore, non-clinical studies conducted inhumanHSPCs in vitro andmurinemodels in vivo, as well as the first clinical trial, have demonstrated the feasibility of the gene therapy approach for the treatment of b-thalassemia.(11,12)”
An evolutionarily ancient mechanism for regulation of hemoglobin expression in vertebrate red cells
Miyata, M., Gillemans, N., Hockman, D., Demmers, J., Cheng, J., Hou, J., Salminen, M., Fisher, C. A., Taylor, S., Gibbons, R. J., et al. (2020) · Blood · doi:10.1182/blood.2020004826 · Cited by 24
Sevilla, J., Navarro, S., Rı́o, P., Sánchez‐Domínguez, R., Zubicaray, J., Gálvez, E. H., Merino, E., Sebastián, E., Azqueta, C., Casado, J. A., et al. (2021) · Molecular Therapy — Methods & Clinical Development · doi:10.1016/j.omtm.2021.06.001 · Cited by 24
Oikonomopoulou, C., & Goussetis, E. (2021) · Bone Marrow Transplantation · doi:10.1038/s41409-021-01461-0 · Cited by 25
Rattananon, P., Anurathapan, U., Bhukhai, K., & Hongeng, S. (2021) · Frontiers in Pharmacology · doi:10.3389/fphar.2021.730873 · Cited by 26
“However, some studies have reported that the combination of several cytokines can cause a loss of the ability for self-renewal and can induce HSC differentiation and/or exhaustion (Goff et al., 1998; Ueda et al., 2000).”
BackgroundSelf-citationPremawardhena, A., Ediriweera, D. S., Sabouhanian, A., Allen, A., Rees, D. C., de Silva, S., Perera, W., Katugaha, N., Arambepola, M., YAMASHITA, R. C., et al. (2021) · The Lancet Global Health · doi:10.1016/s2214-109x(21)00446-0 · Cited by 25
Beta‐thalassemia and the advent of new interventions beyond transfusion and iron chelation
Chauhan, W., Shoaib, S., Fatma, R., Zaka‐ur‐Rab, Z., & Afzal, M. (2022) · British Journal of Clinical Pharmacology · doi:10.1111/bcp.15343 · Cited by 27
“comes that could substitute for long-term transfusions in a patient with β-thalassaemia.(99,100)”
BackgroundMethodDevelopment and clinical translation of ex vivo gene therapy
Wu, X., He, X., Liu, F., Jiang, X., Wang, P., Zhang, J., & Jiang, J. (2022) · Computational and Structural Biotechnology Journal · doi:10.1016/j.csbj.2022.06.015 · Cited by 28
“In nine patients with the most severe form of the disease, the need for blood transfusions was dramatically reduce by 73% and completely eliminated in three patients [96,102].”
BackgroundYoussef, E. M., Weddle, K., Zimmerman, L., & Palmer, D. (2025) · Drug Safety · doi:10.1007/s40264-025-01596-9 · Cited by 31
“Published studies show sustained engraftment of gene-modified stem cells and a generally acceptable safety profile, though the theoretical risk of insertional mutagenesis remains [161].”
CRISPR/Cas9 for the treatment of haematological diseases: a journey from bacteria to the bedside
Humbert, O., Samuelson, C., & Kiem, H. (2020) · British Journal of Haematology · doi:10.1111/bjh.16807 · Cited by 27
Breda, L., Ghiaccio, V., Tanaka, N., Jarocha, D. J., Ikawa, Y., Abdulmalik, O. Y., Dong, A., Casu, C., Raabe, T. D., Shan, X., et al. (2021) · Molecular Therapy · doi:10.1016/j.ymthe.2020.12.036 · Cited by 23
Self-citationInnovative Treatments for Rare Anemias
Cappellini, M. D., Marcon, A., Fattizzo, B., & Motta, I. (2021) · HemaSphere · doi:10.1097/hs9.0000000000000576 · Cited by 23
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“Gene therapy is another proposed strategy, involving the infusion of autologous hematopoietic stem cells (HSCs) modified with a lentiviral vector that expresses β-globin in erythroid progenitors [8].”
BackgroundGene modification therapies for hereditary diseases in the fetus
Mattar, C. N. Z., Chan, J. K. Y., & Choolani, M. A. (2023) · Prenatal Diagnosis · doi:10.1002/pd.6347 · Cited by 23
EHA Research Roadmap on Hemoglobinopathies and Thalassemia: An Update
Iolascon, A., Franceschi, L. D., Muckenthaler, M. U., Taher, A. T., Rees, D. C., de Montalembert, M., Rivella, S., Eleftheriou, A., & Cappellini, M. D. (2019) · HemaSphere · doi:10.1097/hs9.0000000000000208 · Cited by 24
“with b-thalassemia can be isolated and transduced with viruses to introduce exogenous genetic material, such as b-like globin transgenes that can allow for such exogenous gene expression.(26)”
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Fañanas-Baquero, S., Bustamante, O. Q., Dever, D. P., Alberquilla, O., Sánchez‐Domínguez, R., Camarena, J., Ojeda-Pérez, I., Dessy-Rodríguez, M., Turk, R., Schubert, M. S., et al. (2021) · Molecular Therapy — Methods & Clinical Development · doi:10.1016/j.omtm.2021.05.001 · Cited by 22
“This strategy has been used in several hematological ge-netic diseases, 12,13 including hemoglobinopathies, 14 – 17 being already approved for clinical application in Europe (Zynteglo; https://t.ly/ sBSg).”
Correction of RNA splicing defect in β654-thalassemia mice using CRISPR/Cas9 gene-editing technology
Lü, D., Gong, X., Fang, Y., Guo, X., Chen, Y., Yang, F., Zhao, G., Ma, Q., Zeng, Y., & Zeng, F. (2021) · Haematologica · doi:10.3324/haematol.2020.278238 · Cited by 22
“38-42 The consequences of somatic cell gene editing seem more predictable and acceptable since fewer chromosomal changes in hematopoietic stem cells via NHEJ were found in human embryo studies.”
Therapeutic gene editing strategies using CRISPR-Cas9 for the β-hemoglobinopathies
Papizan, J. B., Porter, S. N., Sharma, A., & Pruett‐Miller, S. M. (2020) · Journal of Biomedical Research · doi:10.7555/jbr.34.20200096 · Cited by 21
Cannon, P. M., Asokan, A., Czechowicz, A. D., Hammond, P. T., Kohn, D. B., Lieber, A., Malik, P., Marks, P. W., Porteus, M. H., Verhoeyen, E., et al. (2021) · Human Gene Therapy · doi:10.1089/hum.2020.263 · Cited by 26
Sobrino, S., Joseph, L., Magrin, E., Chalumeau, A., Hebert, N., Corsia, A., Denis, A., Roudaut, C., Aussel, C., Leblanc, O., et al. (2025) · Nature Communications · doi:10.1038/s41467-025-58321-4 · Cited by 23
Self-citationImplications of hematopoietic stem cells heterogeneity for gene therapies
Epah, J., & Schäfer, R. (2021) · Gene Therapy · doi:10.1038/s41434-021-00229-x · Cited by 17
The intersection of vector biology, gene therapy, and hemophilia
Lisowski, L., Staber, J. M. R., Wright, J. F., & Valentino, L. A. (2021) · Research and Practice in Thrombosis and Haemostasis · doi:10.1002/rth2.12586 · Cited by 19
Cruz, L. J., Rezaei, S., Grosveld, F. G., Philipsen, S., & Eich, C. (2022) · Frontiers in Genome Editing · doi:10.3389/fgeed.2022.1030285 · Cited by 23
“However, viruses, mainly lentivirus (LV, 80–100 nm), adenovirus (AdV, 90–100 nm) and adeno-associated virus (AAV, 25 nm), can transduce human HSCs, as demonstrated by transplantation experiments and in clinical trials (Aiuti et al., 2013; Song et al., 2013; Genovese et al., 2014; Sather et al., 2015; Traxler et al., 2…”
BackgroundZakas, P. M., Cunningham, S. C., Doherty, A., van Dijk, E. B., Ibraheim, R., Yu, S., Mekonnen, B. D., Lang, B., English, E. J., Sun, G., et al. (2024) · Molecular Therapy · doi:10.1016/j.ymthe.2024.06.021 · Cited by 22
Gene Therapy as a Curative Option for β-Thalassemia
Biffi, A. (2018) · New England Journal of Medicine · doi:10.1056/nejme1802169 · Cited by 20
Genome-based therapeutic interventions for β-type hemoglobinopathies
Karamperis, K., Tsoumpeli, M. T., Kounelis, F., Koromina, M., Mitropoulou, C., Moutinho, C., & Patrinos, G. P. (2021) · Human Genomics · doi:10.1186/s40246-021-00329-0 · Cited by 20
Hurdles to the Adoption of Gene Therapy as a Curative Option for Transfusion-Dependent Thalassemia
Thuret, I., Ruggeri, A., Angelucci, E., & Chabannon, C. (2022) · Stem Cells Translational Medicine · doi:10.1093/stcltm/szac007 · Cited by 23
Luspatercept for β-thalassemia: beyond red blood cell transfusions
Taher, A. T., & Cappellini, M. D. (2021) · Expert Opinion on Biological Therapy · doi:10.1080/14712598.2021.1968825 · Cited by 18
Abnormal regulation of microRNAs and related genes in pediatric β‐thalassemia
Wang, H., Chen, M., Xu, S., Pan, Y., Zhang, Y., Huang, H., & Xu, L. (2021) · Journal of Clinical Laboratory Analysis · doi:10.1002/jcla.23945 · Cited by 24
Leonard, A. K., Bertaina, A., Bonfim, C., Cohen, S., Prockop, S. E., Purtill, D., Russell, A. L., Boelens, J. J., Wynn, R. F., Ruggeri, A., et al. (2021) · Cytotherapy · doi:10.1016/j.jcyt.2021.09.003 · Cited by 20
In Vivo Hematopoietic Stem Cell Genome Editing: Perspectives and Limitations
Psatha, N., Paschoudi, K., Παπαδοπούλου, Α., & Yannaki, E. (2022) · Genes · doi:10.3390/genes13122222 · Cited by 24
Allogenic microglia replacement: A novel therapeutic strategy for neurological disorders
Rao, Y., & Peng, B. (2023) · Fundamental Research · doi:10.1016/j.fmre.2023.02.025 · Cited by 18
“Retrovirus-and lentivirus-based gene trans-ductions are preferred in the modification of hematopoietic stem cells (HSCs), enabling the cure or rescue of inherited hemoglobinopathies such as sickle cell disease and beta thalassemia [ 120 , 123 ].”
BackgroundMethodLiu, S., Shi, J., Lin, Y., et al. (2023) · Biosensors and Bioelectronics · doi:10.1016/j.bios.2023.115962 · Cited by 19
Generation of High-Titer Self-Inactivated γ-Retroviral Vector Producer Cells
Ghani, K., Boivin-Welch, M., Roy, S., Piaceski, A. D., Barbier, M. A., Pope, E., Germain, L., & Caruso, M. (2019) · Molecular Therapy — Methods & Clinical Development · doi:10.1016/j.omtm.2019.05.013 · Cited by 20
Health state utilities associated with treatment for transfusion-dependent β-thalassemia
Matza, L. S., Paramore, L. C., Stewart, K. D., Karn, H., Jobanputra, M., & Dietz, A. C. (2019) · The European Journal of Health Economics · doi:10.1007/s10198-019-01136-0 · Cited by 18
“These modified HSCs are then introduced into the patient following myeloablative conditioning [13, 14].”
BackgroundInfluentialAli, G., Tariq, M. A., Shahid, K., Ahmad, F. J., & Akram, J. (2020) · Gene Therapy · doi:10.1038/s41434-020-0153-9 · Cited by 20
Nualkaew, T., Sii-Felice, K., Giorgi, M., McColl, B., Gouzil, J., Glaser, A., Voon, H. P. J., Tee, H. Y., Grigoriadis, G., Svasti, S., et al. (2021) · Molecular Therapy · doi:10.1016/j.ymthe.2021.04.037 · Cited by 18
Self-citationThrombotic Microangiopathy as an Emerging Complication of Viral Vector–Based Gene Therapy
Schwotzer, N., Sissy, C. E., Desguerre, I., Frémeaux‐Bacchi, V., Servais, L., & Fakhouri, F. (2024) · Kidney International Reports · doi:10.1016/j.ekir.2024.04.024 · Cited by 19
“The clinical ef fi cacy of gene therapy has been demonstrated in several studies 26-29 but treatment related side effects have also been recognized.”
BackgroundThe Past, Present, and (Near) Future of Gene Therapy and Gene Editing
Pian, J., Chandra, A., & Stern, A. D. (2020) · NEJM Catalyst · doi:10.1056/cat.20.0072 · Cited by 18
Mekelenkamp, H., Smiers, F. J. W., Camp, N., Stubenrouch, F. E., Lankester, A. C., & de Vries, M. C. (2021) · Pediatric Blood & Cancer · doi:10.1002/pbc.29099 · Cited by 18
Kansal, A. R., Reifsnider, O. S., Brand, S. B., Hawkins, N., Coughlan, A., Li, S., Cragin, L. S., Paramore, C., Dietz, A. C., & Jaime, J. (2021) · Journal of Market Access & Health Policy · doi:10.1080/20016689.2021.1922028 · Cited by 18
“known as LentiGlobin for β-thalassemia) is a one-time gene addition therapy for TDT [18].”
BackgroundIto, S., Nagoshi, N., Kamata, Y., Kojima, K., Nori, S., Matsumoto, M., Takei, K., Nakamura, M., & Okano, H. (2021) · Stem Cell Reports · doi:10.1016/j.stemcr.2021.09.006 · Cited by 17
Gene therapy for β-thalassemia: current and future options
Hardouin, G., Miccio, A., & Brusson, M. (2025) · Trends in Molecular Medicine · doi:10.1016/j.molmed.2024.12.001 · Cited by 19
Poulton, A., Lewis, S., Hui, L., & Halliday, J. L. (2018) · Prenatal Diagnosis · doi:10.1002/pd.5352 · Cited by 18
Poly(Lactic-co-Glycolic Acid) Nanoparticle Delivery of Peptide Nucleic Acids In Vivo
Oyaghire, S. N., Quijano, E., Piotrowski-Daspit, A. S., Saltzman, W. M., & Glazer, P. M. (2020) · Methods in molecular biology · doi:10.1007/978-1-0716-0243-0_17 · Cited by 18
Morgan, R. A., Ma, F., Unti, M. J., Brown, D., Ayoub, P. G., Tam, C., Lathrop, L. E., Aleshe, B., Kurita, R., Nakamura, Y., et al. (2020) · Molecular Therapy — Methods & Clinical Development · doi:10.1016/j.omtm.2020.04.006 · Cited by 19
Genetic and Epigenetic Therapies for β-Thalassaemia by Altering the Expression of α-Globin Gene
Mettananda, S. (2021) · Frontiers in Genome Editing · doi:10.3389/fgeed.2021.752278 · Cited by 19
Combination of lentiviral and genome editing technologies for the treatment of sickle cell disease
Ramadier, S., Chalumeau, A., Félix, T., Othman, N., Aknoun, S., Casini, A., Maule, G., Masson, C., Cian, A. D., Frati, G., et al. (2021) · Molecular Therapy · doi:10.1016/j.ymthe.2021.08.019 · Cited by 17
Self-citationIntegrase deficient lentiviral vector: prospects for safe clinical applications
Yew, C.-H. T., Gurumoorthy, N., Nordin, F., Tye, G. J., Zaman, W. S. W. K., Tan, J. J., & Ng, M. H. (2022) · PeerJ · doi:10.7717/peerj.13704 · Cited by 20
Corbacioglu, S., Frangoul, H., Locatelli, F., Hobbs, W., & Walters, M. C. (2023) · American Journal of Hematology · doi:10.1002/ajh.27166 · Cited by 19
“4,7 These classifications are now being used as eligibility criteria in clinical trials and in defining management guidelines.”
MethodSelf-citationKitawi, R. C., Ledger, S., Kelleher, A. D., & Ahlenstiel, C. (2024) · International Journal of Molecular Sciences · doi:10.3390/ijms25052771 · Cited by 18
“Supplementary Table S1 gives a summary of gene and cell products that have been approved so far by different regulatory authorities [ 2– 34 ].”
BackgroundDiamantidis, M. D., Ikonomou, G., Argyrakouli, I., Pantelidou, D., & Delicou, S. (2024) · International Journal of Molecular Sciences · doi:10.3390/ijms252211886 · Cited by 21
Patsali, P., Papasavva, P. L., Stephanou, C., Christou, S., Sitarou, M., Antoniou, M. N., Lederer, C. W., & Kleanthous, M. (2018) · Haematologica · doi:10.3324/haematol.2018.189357 · Cited by 17
“According to still limited data from preclinical studies and clinical trials, HBB appears recalcitrant to therapy by gene addition compared to other HBB mutations, suggesting aberrant transcripts as pathological trans factors likely acting by co-translational inhibition.(6,7) Their reduction by oligonucleotide-mediate…”
BackgroundThalassemia: Common Clinical Queries in Management
Lal, A., & Bansal, D. (2019) · The Indian Journal of Pediatrics · doi:10.1007/s12098-019-03065-5 · Cited by 17
Novel therapies in β‐thalassaemia
Grech, L., Borg, K., & Borg, J. (2021) · British Journal of Clinical Pharmacology · doi:10.1111/bcp.14918 · Cited by 18
“In these phase 1/2 trials, sponsored by Bluebird Bio, the novel vector known as LentiGlobin BB305 was transduced in vitro in the autologous CD34+ cells obtained from 22 TDT patients.73 By removing the insulator domains and replacing the 50 long-terminal repeat with a CMV promoter this vector was found to have a 3–4 ti…”
MethodInfluentialZhu, J., Li, H., Aerbajinai, W., Kumkhaek, C., Pirooznia, M., Saxena, A., Dagur, P. K., Chin, K., & Rodgers, G. P. (2022) · Blood · doi:10.1182/blood.2021014877 · Cited by 17
Bernaudin, F. (2019) · Journal of Clinical Medicine · doi:10.3390/jcm8101523 · Cited by 18
Anemia and iron overload as prognostic markers of outcomes in β-thalassemia
Musallam, K. M., Sheth, S., Cappellini, M. D., Forni, G. L., Maggio, A., & Taher, A. T. (2024) · Expert Review of Hematology · doi:10.1080/17474086.2024.2383420 · Cited by 18
Botchkarev, V. V., Harrington, S., Stoppato, M., Justen, A., Kimber, C., Kapuria, A., Gibson, K. M., Chu, C.-S., Xu, Y., Haugh, K. A., et al. (2025) · Nature Biotechnology · doi:10.1038/s41587-025-02915-2 · Cited by 22
Gene Editing for Inherited Red Blood Cell Diseases
Bustamante, O. Q., Fañanas-Baquero, S., Dessy-Rodríguez, M., Ojeda-Pérez, I., & Segovia, J. C. (2022) · Frontiers in Physiology · doi:10.3389/fphys.2022.848261 · Cited by 20
Targeting fetal hemoglobin expression to treat β hemoglobinopathies
Steinberg, M. H. (2022) · Expert Opinion on Therapeutic Targets · doi:10.1080/14728222.2022.2066519 · Cited by 16
“With this success, additional trials of lentivirus-mediated additive gene therapy in β thalassemia and sickle cell anemia were undertaken [84,85].”
MethodLezzar, D. L., Lam, F. W., Huerta, R., Mukhamedshin, A., Lu, M., & Shevkoplyas, S. S. (2022) · Scientific Reports · doi:10.1038/s41598-022-16748-5 · Cited by 17
Correcting inborn errors of immunity: From viral mediated gene addition to gene editing
Castiello, M. C., Ferrari, S., & VILLA, A. M. (2023) · Seminars in Immunology · doi:10.1016/j.smim.2023.101731 · Cited by 16
Evaluation of diversity indices to estimate clonal dominance in gene therapy studies
Corre, G., & Galy, A. H. M. (2023) · Molecular Therapy — Methods & Clinical Development · doi:10.1016/j.omtm.2023.05.003 · Cited by 21
“Self-inactivated lentiviral vectors (LVs) have reduced this risk, but LVs can still disrupt gene expression in HSCs or in T cells, resulting in proliferative advantages and clonal dominance without transformation, as observed in some patients treated with LVs for thalassemia(11) or with CAR-T cells for cancer.(12,13)…”
BackgroundCurrent avenues of gene therapy in Pompe disease
Leon‐Astudillo, C., Trivedi, P. D., Sun, R. C., Gentry, M. S., Fuller, D. D., Byrne, B. J., & Corti, M. (2023) · Current Opinion in Neurology · doi:10.1097/wco.0000000000001187 · Cited by 19
Recent advancements in gene therapy for sickle cell disease and β-thalassemia
Li, L., & Mandal, P. K. (2024) · Frontiers in Hematology · doi:10.3389/frhem.2024.1468952 · Cited by 23
“The Lenti-Globin BB305 vector was studied in patients with TDT and SCD for its safety and ef fi cacy in clinical trials HGB-205 (NCT02151526).”
BackgroundMethodKhan, A., Barber, D. L., McKillop, W. M., Rupar, C. A., Auray‐Blais, C., Fraser, G. A. M., Fowler, D. H., Berger, A., Foley, R., Keating, A., et al. (2025) · Clinical and Translational Medicine · doi:10.1002/ctm2.70073 · Cited by 16
Stavrou, E. F., Simantirakis, E., Verras, M., Barbas, C. F., Vassilopoulos, G., Peterson, K. R., & Athanassiadou, A. (2019) · Scientific Reports · doi:10.1038/s41598-019-56056-z · Cited by 16
Primary HBB gene mutation severity and long‐term outcomes in a global cohort of β‐thalassaemia
Musallam, K. M., Vitrano, A., Meloni, A., Pollina, S. A., Marco, V. D., Ansari, S. H., Filosa, A., Ricchi, P., Ceci, A., Daar, S., et al. (2021) · British Journal of Haematology · doi:10.1111/bjh.17897 · Cited by 16
“Efficacy data from the phase 1/2 gene therapy trials with betibeglogene autotemcel (LentiGlobin BB305) in transfusion-dependent b-thalassaemia have also been stratified for patients with b/b and non-b/b, although in this programme IVS I-110 was also grouped with b mutations.(18) Benefit was more pronounced in the non-…”
MethodSelf-citationLiang, Q., Vlaar, E. C., Catalano, F., Pijnenburg, J. M., Stok, M., van Helsdingen, Y., Vulto, A. G., Unger, W. W. J., van der Ploeg, A. T., Pijnappel, W. W. M. P., et al. (2022) · Molecular Therapy — Methods & Clinical Development · doi:10.1016/j.omtm.2022.04.016 · Cited by 17
Liver-directed gene-based therapies for inborn errors of metabolism
Piccolo, P., Rossi, A., & Brunetti‐Pierri, N. (2020) · Expert Opinion on Biological Therapy · doi:10.1080/14712598.2020.1817375 · Cited by 16
“such as severe combined immunodeficiencies [40], WiskottAldrich syndrome [41], and hemoglobinopathies [42,43].”
BackgroundCardiac injury caused by iron overload in thalassemia
Fu, C., & Yang, X. Y. (2025) · Frontiers in Pediatrics · doi:10.3389/fped.2025.1514722 · Cited by 16
Time to rethink haemoglobin threshold guidelines in sickle cell disease
Ballas, S. K., Kuypers, F. A., Gordeuk, V. R., Hankins, J. S., Thompson, A. A., & Vichinsky, E. P. (2021) · British Journal of Haematology · doi:10.1111/bjh.17578 · Cited by 17
“The most common grade ≥3 adverse events included nausea and haematologic alterations associated with myeloablative conditioning.(31,32) While assessment of viscosity and rheological markers are limited in these patients, there have been no appreciable viscosity concerns that have emerged over time in HSCT and gene the…”
BackgroundSelf-citationHighly specific and sensitive detection of Burkholderia pseudomallei genomic DNA by CRISPR-Cas12a
Wongpalee, S. P., Thananchai, H., Chewapreecha, C., Roslund, H. B., Chomkatekaew, C., Tananupak, W., Boonklang, P., Pakdeerat, S., Seng, R., Chantratita, N., et al. (2022) · PLoS neglected tropical diseases · doi:10.1371/journal.pntd.0010659 · Cited by 13
Emergent treatments for β-thalassemia and orphan drug legislations
Costa, E., Cappellini, M. D., Rivella, S., Chilin, A., Alessi, E., Riccaboni, M., Leufkens, H. G. M., & Luzzatto, L. (2022) · Drug Discovery Today · doi:10.1016/j.drudis.2022.103342 · Cited by 14
Advances and Challenges in the Development of Gene Therapy Medicinal Products for Rare Diseases
Bueren, J. A., & Auricchio, A. (2023) · Human Gene Therapy · doi:10.1089/hum.2023.152 · Cited by 17
“51 In 2019, bluebird bio obtained the marketing authorization for Zynteglo (CD34 + cells transduced with LentiGlobin BB305) from the European Commission, and then in 2022 from the U.S. FDA (see Table 1).”
Oved, J. H., Russell, A. L., Dezern, A. E., Prockop, S. E., Bonfim, C., Sharma, A., Purtill, D., Lakkaraja, M. M., Bidgoli, A., Bhoopalan, S. V., et al. (2024) · Cytotherapy · doi:10.1016/j.jcyt.2024.09.001 · Cited by 17
Self-citation
Metadata
- Authors
- Thompson, A. A., Walters, M. C., Kwiatkowski, J., Rasko, J. E. J., Ribeil, J.-A., Hongeng, S., Magrin, E., Schiller, G. J., Payen, E., Semeraro, M., Moshous, D., Lefrere, F., Puy, H., Bourget, P., Magnani, A., Caccavelli, L., Diana, J.-S., Suarez, F., Monpoux, F., Brousse, V., Poirot, C., Brouzes, C., Meritet, J.-F., Pondarré, C., Beuzard, Y., Chrétien, S., Lefebvre, T., Teachey, D. T., Anurathapan, U., Ho, P. J., von Kalle, C., Kletzel, M., Vichinsky, E., Soni, S., Veres, G., Negre, O., Ross, R. W., Davidson, D., Petrusich, A., Sandler, L., Asmal, M., Hermine, O., De Montalembert, M., Hacein-Bey-Abina, S., Blanche, S., Leboulch, P., & Cavazzana, M.
- Affiliations
- Brigham and Women's Hospital (US)
- From the Ann and Robert H. Lurie Children’s Hospital of Chicago, Northwestern University Feinberg School of Medicine, Chicago (A.A.T., M.K.); University of California, San Francisco, Benioff Children’s Hospital, Oakland (M.C.W., E.V.), Lucile Salter Packard Children’s Hospital at Stanford, Palo Alto (S.S.), and David Geffen School of Medicine, University of California, Los Angeles, Los Angeles (G.J.S.) — all in California; Children’s Hospital of Philadelphia and University of Pennsylvania Perelman...
- ORCID
- Thompson, Alexis A.
- Walters, Mark C.
- Kwiatkowski, Janet
- Rasko, John E.J.
- Ribeil, Jean-Antoine
- Hongeng, Suradej
- Magrin, Elisa
- Schiller, Gary J.
- Payen, Emmanuel
- Moshous, Despina
- Puy, Hervé
- Magnani, Alessandra
- Caccavelli, Laure
- Diana, Jean-Sébastien
- Brousse, Valentine
- Poirot, Catherine
- Brouzes, Chantal
- Pondarré, Corinne
- Chrétien, Stany
- Teachey, David T.
- Anurathapan, Usanarat
- Ho, P. Joy
- Kletzel, Morris
- Vichinsky, Elliott
- Soni, Sandeep
- Asmal, Mohammed
- Hermine, Olivier
- Blanche, Stéphane
- Leboulch, Philippe
- Cavazzana, Marina
- Venue
- New England Journal of Medicine
- Publisher
- Massachusetts Medical Society
- Published
- 2018-04-19
- Volume
- 378
- Issue
- 16
- Pages
- 1479-1493
- ISSN
- 0028-4793 (ISSN-L)
- 1533-4406
- OpenAlex
- W2802087233
- Cited by
- 684
- References
- 41
- Citations by year
- 2026: 44 · 2025: 52 · 2024: 65 · 2023: 78 · 2022: 79 · 2021: 123 · 2020: 88 · 2019: 101 · 2018: 53
- FWCI
- 55.95
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- New England Journal of Medicine (publishedVersion)
- PubMed (publishedVersion)
- HAL (submittedVersion)
- eScholarship (California Digital Library) (submittedVersion)
- Funders
- bluebird bio
- National Center for Advancing Translational Sciences (UL1TR000003 and UL1TR001878)
- Assistance Publique - Hôpitaux de Paris
- Institut National de la Santé et de la Recherche Médicale
- Commissariat à l'Énergie Atomique et aux Énergies Alternatives
- Agence Nationale de la Recherche
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Virus-based gene therapy research
- Health Sciences › Medicine › Genetics (clinical) › Hemoglobinopathies and Related Disorders
- Health Sciences › Medicine › Hematology › Hematopoietic Stem Cell Transplantation
- Keywords
- beta-thalassemia, gene therapy, autologous stem cell transplantation, CD34+ cells, transfusion dependence, vector copy number, clonal dominance, beta-globin gene
- MeSH terms
- Adolescent, Adult, Child, Female, Genetic Vectors, Hemoglobins, Humans, Male, Mutation, Transplantation, Autologous, Genetic Therapy, Lentivirus, beta-Thalassemia, Erythrocyte Transfusion, Gene Transfer Techniques, Antigens, CD34, beta-Globins, Young Adult
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