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
Cites
In Vivo Gene Delivery and Stable Transduction of Nondividing Cells by a Lentiviral Vector
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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 301–400 of 681
Mirza, A., Ritsert, M.-L., Tao, G., Thakar, H. L., Lobitz, S., Heine, S., Koscher, L., Dürken, M., Schmitt, A., Schmitt, M. W., et al. (2024) · Blood Advances · doi:10.1182/bloodadvances.2024014104 · Cited by 16
“Of patients who carried at least 1 β ⁺ allele, ~90% achieved TI in the pivotal trials of beti-cel, 19,20 a rate comparable with those who received allogeneic HSCT from an MSD. 7,29 In this report, all patients achieved TI and had an unsupported Hb level of >11 g/dL, con fi rming the ef fi cacy of…”
Emerging therapies in β-thalassemia: toward a new era in management
Bou‐Fakhredin, R., Tabbikha, R., Daadaa, H., & Taher, A. T. (2020) · Expert Opinion on Emerging Drugs · doi:10.1080/14728214.2020.1752180 · Cited by 17
“The median annual transfusion volume decreased by 73% in 9 patients with a β/β genotype, and transfusions were discontinued in 3 patients [52].”
BackgroundChristopher, A. C., Venkatesan, V., Karuppusamy, K. V., Srinivasan, S., Babu, P., Azhagiri, M. K. K., Chambayil, K., Bagchi, A., Rajendiran, V., Ravi, N. S., et al. (2021) · Human Gene Therapy · doi:10.1089/hum.2021.089 · Cited by 16
Gamage, U., Warnakulasuriya, K., Hansika, S., & Silva, G. N. (2023) · Thalassemia Reports · doi:10.3390/thalassrep13010006 · Cited by 17
“Gene therapy approaches for β-thalassemia have gained significant attention as a realistic and effective therapeutic approach to achieve sustainable, stable, and high-level expression of functional globin genes in TDT patients with no mortality and severe immunological complications such as graft rejection and clonal…”
BackgroundCurrent and emerging treatments for sickle cell disease
Monus, T., & Howell, C. M. (2019) · JAAPA · doi:10.1097/01.jaa.0000578812.47138.99 · Cited by 14
Premawardhena, A., Perera, C., Wijethilaka, M. N., Wanasinghe, S. K., Rajakaruna, R., Samarasinghe, R. A. N. K. K., Williams, S., & Mettananda, S. (2024) · BMJ Open · doi:10.1136/bmjopen-2023-077342 · Cited by 18
Kountouris, P., Michailidou, K., Christou, S., Hadjigavriel, M., Sitarou, M., Kolnagou, A., Kleanthous, M., & Telfer, P. T. (2020) · Haematologica · doi:10.3324/haematol.2020.260224 · Cited by 14
“Secondly, it would contribute to the decision of instituting emerging strategies for treating TDT including enhancement of endogenous erythropoiesis(34), as well as lentiviral and gene editing strategies(35,36), both of which appear to be more effective in patients with milder genotypes and higher residual β-globin ch…”
BackgroundOutcomes of allogeneic transplantation for hemoglobin Bart’s hydrops fetalis syndrome in Hong Kong
Chan, W. Y. K., Lee, P. P. W., Lee, V. W., et al. (2021) · Pediatric Transplantation · doi:10.1111/petr.14037 · Cited by 14
Targeting the Hematopoietic Stem Cell Niche in β-Thalassemia and Sickle Cell Disease
Aprile, A., Sighinolfi, S., Raggi, L., & Ferrari, G. (2022) · Pharmaceuticals · doi:10.3390/ph15050592 · Cited by 16
“LentiGlobinTM BB305 medicinal product (commercial name Zyntheglo) consists of autologous CD34+ HSPCs transduced with BB305 lentiviral vector that encodes for anti-sickling hemoglobin (HbAT87Q) and showed safety and efficacy in severe SCD and TDT patients with a reduction in transfusion requirements up to transfusion i…”
BackgroundGene therapy for hemophilia, a clinical viewpoint
Chou, S., Hsu, Y., & Lin, S. (2023) · Journal of the Formosan Medical Association · doi:10.1016/j.jfma.2023.05.008 · Cited by 15
Allen, E. S., & Conry‐Cantilena, C. (2019) · Seminars in Hematology · doi:10.1053/j.seminhematol.2019.11.003 · Cited by 15
Small RNAs to treat human immunodeficiency virus type 1 infection by gene therapy
Goguen, R. P., Malard, C. M. G., Scarborough, R. J., & Gatignol, A. (2019) · Current Opinion in Virology · doi:10.1016/j.coviro.2019.04.003 · Cited by 14
Clinical application of base editing for treating β-thalassaemia
Lai, Y., Liu, R., Wang, L., Ma, X.-K., Li, Y., Yang, G., Shi, L., Guo, Y., Wei, Z., Zhou, X., et al. (2026) · Nature · doi:10.1038/s41586-026-10342-9 · Cited by 19
AAV-mediated in vivo genome editing in vascular endothelial cells
Wu, W., Yang, Y., Yao, F., Dong, L., Xia, X., Zhang, S., & Lei, H. (2020) · Methods · doi:10.1016/j.ymeth.2020.12.001 · Cited by 14
Selecting β-thalassemia Patients for Gene Therapy: A Decision-making Algorithm
BARONCIANI, D., Casale, M., Franceschi, L. D., Graziadei, G., Longo, F., Origa, R., Rigano, P., Pinto, V. M., Marchetti, M., Gigante, A., et al. (2021) · HemaSphere · doi:10.1097/hs9.0000000000000555 · Cited by 16
“• The ideal candidates for gene therapy are patients with βTDT who have no or only slight hepatic fibrosis, which in this context the SITE defines as level F1 based on Fibroscan or Ishak stage 0-1-(2) based on liver biopsy.”
BackgroundThe effect of red blood cell disorders on male fertility and reproductive health
Naelitz, B. D., Khooblall, P., Parekh, N. V., Vij, S. C., Rotz, S. J., & Lundy, S. D. (2024) · Nature Reviews Urology · doi:10.1038/s41585-023-00838-8 · Cited by 15
“This novel gene therapy treatment consists of functional β-globulin gene transduction into patient-derived haematopoietic stem cells before autologous transplantation, and was shown to achieve sustained transfusion independence in >85% of patients 85,86 .”
Anciuc-Crauciuc, M., Cucerea, M., Tripon, F., Crauciuc, G., & Bănescu, C. (2024) · International Journal of Molecular Sciences · doi:10.3390/ijms25010649 · Cited by 12
“Lentiviruses, commonly referred to as LVs, enjoy extensive use and have garnered FDA approval for clinical trials aimed at addressing various conditions, including SCID, chronic granulomatous disease, adrenoleukodystrophy, and beta-thalassemia [146,147].”
BackgroundNieto-Romero, V., García-Torralba, A., Molinos-Vicente, A., Moya, F., Rodríguez, S., García‐Escudero, R., SALIDO, E. C., Segovia, J. C., & Garcı́a-Bravo, M. (2024) · iScience · doi:10.1016/j.isci.2024.109530 · Cited by 13
Fan, W., Shao, M., Zhang, J., Jin, G., Liu, F., & Xu, F. (2019) · Advanced Functional Materials · doi:10.1002/adfm.201807104 · Cited by 13
CRISPR/Cas9 gene correction of HbH-CS thalassemia-induced pluripotent stem cells
Yingjun, X., Yuhuan, X., Yuchang, C., Dong-zhi, L., Wang, D., Song, B., Yang, Y. A., Lu, D., Xue, Y., Xiong, Z., et al. (2019) · Annals of Hematology · doi:10.1007/s00277-019-03763-2 · Cited by 13
Canarutto, D., Tucci, F., Gattillo, S., Zambelli, M., Calbi, V., Gentner, B., Ferrua, F., Marktel, S., Migliavacca, M., Barzaghi, F., et al. (2021) · Molecular Therapy — Methods & Clinical Development · doi:10.1016/j.omtm.2021.05.013 · Cited by 14
“DISCUSSION Autologous HSPC-based GT is becoming a new paradigm for the treatment of inborn errors of immunity,(6,7,19) metabolism,(2,3,20) and haemopoiesis.(1,4,14) Three medicinal products based on HSPC have been authorized in the European Union (EU), and others are in advanced clinical development.”
BackgroundA disposable impedance-based sensor for in-line cell growth monitoring in CAR-T cell manufacturing
Liu, Z., Jiang, X., Li, S., Chen, J., Jiang, C. H., Wang, K., Zhang, C., & Wang, B. (2023) · Bioelectrochemistry · doi:10.1016/j.bioelechem.2023.108416 · Cited by 13
HBB-deficient Macaca fascicularis monkey presents with human β-thalassemia
Huang, Y., Ding, C., Liang, P., et al. (2019) · Protein & Cell · doi:10.1007/s13238-019-0627-y · Cited by 13
“Recently, gene therapy and gene editing therapy have shown great promise in curing β-thalassemia (Glaser et al., 2015; Thompson et al., 2018).”
Overview of the current status of gene therapy for primary immune deficiencies (PIDs)
Kuo, C. Y., & Kohn, D. B. (2020) · Journal of Allergy and Clinical Immunology · doi:10.1016/j.jaci.2020.05.024 · Cited by 15
Chu, S. N., Soupène, E., Sharma, D., Sinha, R., McCreary, T., Hernandez, B. N., Shen, H., Wienert, B., Bowman, C., Yin, H., et al. (2025) · Cell Reports · doi:10.1016/j.celrep.2024.115141 · Cited by 12
A Growing Population of Older Adults with Sickle Cell Disease
Shet, A. S., & Thein, S. L. (2019) · Clinics in Geriatric Medicine · doi:10.1016/j.cger.2019.03.006 · Cited by 15
In Vivo Gene Therapy for Canine SCID-X1 Using Cocal-Pseudotyped Lentiviral Vector
Rajawat, Y. S., Humbert, O., Cook, S. M., Radtke, S., Pande, D., Enstrom, M., Wohlfahrt, M. E., & Kiem, H. (2020) · Human Gene Therapy · doi:10.1089/hum.2020.127 · Cited by 12
Modica, S. M. D., Tanzi, E., Olivari, V., Lidonnici, M. R., Pettinato, M., Pagani, A., Tiboni, F., Furiosi, V., Silvestri, L., Ferrari, G., et al. (2022) · American Journal of Hematology · doi:10.1002/ajh.26673 · Cited by 12
CRISPR/Cas9-mediated gene editing. A promising strategy in hematological disorders
Ugalde, L., Fañanas-Baquero, S., Torres-Ruiz, R., Bustamante, O. Q., & Rı́o, P. (2023) · Cytotherapy · doi:10.1016/j.jcyt.2022.11.014 · Cited by 16
Gene Therapy for Hemoglobinopathies
Lidonnici, M. R., Scaramuzza, S., & Ferrari, G. (2023) · Human Gene Therapy · doi:10.1089/hum.2023.138 · Cited by 15
Drakopoulou, E., Georgomanoli, M., Lederer, C. W., Kleanthous, M., Costa, C., Bernadin, O., Cosset, F., Voskaridou, E., Verhoeyen, E., Papanikolaou, E., et al. (2018) · Human Gene Therapy · doi:10.1089/hum.2018.022 · Cited by 14
“4 15–17 Data from preclinical and clinical studies using b -globin 16,18–20 and c - globin 19 LVs for sickle cell disease (SCD) treatment are also available, suggesting that gene therapy of SCD with globin LVs is also possible.”
Are genetic approaches still needed to cure sickle cell disease?
Brodsky, R. A., & DeBaun, M. R. (2019) · Journal of Clinical Investigation · doi:10.1172/jci133856 · Cited by 12
Wu, Y., Yao, Q., Zhong, M., et al. (2020) · Annals of Hematology · doi:10.1007/s00277-020-04252-7 · Cited by 12
New perspectives in gene therapy for inherited disorders
Cicalese, M. P., & Aiuti, A. (2020) · Pediatric Allergy and Immunology · doi:10.1111/pai.13149 · Cited by 11
Hemoglobinopathies and Thalassemias
Peslak, S. A., & Sayani, F. A. (2022) · Elsevier eBooks · doi:10.1016/b978-0-12-812534-2.00009-6 · Cited by 13
Plasschaert, R. N., DeAndrade, M. P., Hull, F., Nguyen, Q., Peterson, T., Yan, A., Loperfido, M., Baricordi, C., Barbarossa, L., Yoon, J. K., et al. (2022) · Molecular Therapy · doi:10.1016/j.ymthe.2022.05.022 · Cited by 12
Tessema, F. A., Sarpatwari, A., Rand, L. Z., et al. (2022) · The Journal of Law Medicine & Ethics · doi:10.1017/jme.2022.66 · Cited by 11
Hu, J., Gong, S., Chen, K., Yang, R., Wang, L., Yang, K., Nie, L., Zou, L., Su, T., Chen, C., et al. (2022) · British Journal of Haematology · doi:10.1111/bjh.18520 · Cited by 11
Gene Therapy: A Revolutionary Step in Treating Thalassemia
Salama, R. A. A., Qureshi, G. S. A., Safdar, M., Raafat, A., Janardhan, G., Elshamy, H. A. H., & Jhancy, M. (2024) · Hematology Reports · doi:10.3390/hematolrep16040064 · Cited by 15
Nucleic Acid Therapy for β-Thalassemia
d’Arqom, A. (2020) · Biologics · doi:10.2147/btt.s265767 · Cited by 11
Mekelenkamp, H., van Zanten, H., de Vries, M. C., Lankester, A. C., & Smiers, F. J. W. (2021) · Frontiers in Pediatrics · doi:10.3389/fped.2021.690309 · Cited by 11
“Gene therapy is a promising alternative treatment modality, but longterm outcome data are currently lacking (11).”
BackgroundThe Cas9 Hammer—and Sickle: A Challenge for Genome Editors
Urnov, F. D. (2021) · The CRISPR Journal · doi:10.1089/crispr.2021.29120.fur · Cited by 11
“25,26 Finally, a comprehensive IND-enabling pre-clinical path of performing efficacy, safety, and manufacturing studies for ex vivo manufactured genome edited T-cell and HSPC-based products had been established by the early 2010s for other disease indications using ZFNs, 27–29 with more than 100…”
Schiroli, D., Merolle, L., Quartieri, E., et al. (2021) · Biomolecules · doi:10.3390/biom11111638 · Cited by 11
Farmakis, D. T., Angastiniotis, M., Ghoul, M.-M. E., Cannon, L., & Eleftheriou, A. (2022) · Hemoglobin · doi:10.1080/03630269.2022.2099285 · Cited by 11
“As well as new drugs for disease management, a fascinating new era of cure may emerge by virtue of the recent advances in gene therapy [19].”
BackgroundPromising therapeutic aspects in human genetic imprinting disorders
Chao, Y., Qin, Y., Zou, X., Wang, X., Hu, C., Xia, F., & Zou, C. (2022) · Clinical Epigenetics · doi:10.1186/s13148-022-01369-6 · Cited by 13
“Gene replacement therapy Gene therapy, defined as introducing functional genetic materials into the target cells of patients as a therapeutic pathway, is considered a highly promising treatment for many genetic diseases and also some previously untreatable diseases [82, 83].”
BackgroundComplication free survival long-term after hemopoietic cell transplantation in thalassemia
Angelucci, E. (2018) · Haematologica · doi:10.3324/haematol.2018.196071 · Cited by 11
Strategies for managing transfusional iron overload: conventional treatments and novel strategies
Sheth, S. (2019) · Current Opinion in Hematology · doi:10.1097/moh.0000000000000499 · Cited by 11
Pashazadeh‐Panahi, P., & Hasanzadeh, M. (2019) · Biomedicine & Pharmacotherapy · doi:10.1016/j.biopha.2019.109484 · Cited by 11
Andrieu‐Soler, C., & Soler, É. (2020) · Current Opinion in Hematology · doi:10.1097/moh.0000000000000577 · Cited by 10
“Advanced stage gene therapy products have shown efficacy in humans and are being intensively developed and monitored for safety and long-term efficacy [53,54].”
BackgroundSonogenetics in the Treatment of Chronic Diseases: A New Method for Cell Regulation
Zhu, M., Fang, Y., Sun, Y.-K., Li, S., Yu, J., Xiong, B., Wen, C., Zhou, B., Huang, B., Yin, H., et al. (2024) · Advanced Science · doi:10.1002/advs.202407373 · Cited by 10
Engineering Globin Gene Expression
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“This approach led to the complete resolution of transfusion dependence in compound heterozygous b-thalassemia patients.(45) Patients with homozygous b/b had significant reduction in transfusion requirements, but expression of transduced b-globin did not consistently reach levels necessary for complete transfusion inde…”
BackgroundIdentification of the minimum requirements for successful haematopoietic stem cell transplantation
Nishi, K., Sakamaki, T., Sadaoka, K., Fujii, M., Takaori‐Kondo, A., Chen, J. Y., & Miyanishi, M. (2021) · British Journal of Haematology · doi:10.1111/bjh.17867 · Cited by 13
Ctrl-Alt-inDel: genome editing to reprogram a cell in the clinic
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Oved, J. H., Wang, Y., Barrett, D. M., et al. (2018) · Transplantation and Cellular Therapy · doi:10.1016/j.bbmt.2018.10.003 · Cited by 10
“Thus, novel MMUD or MUD HSCT approaches geared toward trying to minimize rates of GVHD while still preventing graft rejection in multiply transfused patients with NMHD are currently under development (15– 16).”
BackgroundInfluentialPapadopoulou, L. C., Ingendoh‐Tsakmakidis, A., Mpoutoureli, C. N., Tzikalou, L. D., Spyridou, E. D., Gavriilidis, G. I., Kaiafas, G. C., Ntaska, A. T., Vlachaki, E., Panayotou, G., et al. (2018) · Molecular Pharmaceutics · doi:10.1021/acs.molpharmaceut.8b00857 · Cited by 10
Targeting the niche: depleting haemopoietic stem cells with targeted therapy
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Wild-type HIV infection after treatment with lentiviral gene therapy for β-thalassemia
Hongeng, S., Anurathapan, U., Songdej, D., Phuphuakrat, A., Jongrak, K., Parsons, G., Deary, B., Bonner, M. A., Veres, G., & Asmal, M. (2021) · Blood Advances · doi:10.1182/bloodadvances.2020003680 · Cited by 11
“7 g/dL.(1) This patient is currently enrolled in LTF-303, the followup study evaluating the long-term safety and efficacy of beti-cel GT for up to 13 years (#NCT02633943).”
BackgroundMethodInfluentialSelf-citationChapin, J. C., Cohen, A. R., Neufeld, E. J., Vichinsky, E. P., Giardina, P. J., Boudreaux, J. M., Le, B. C., Kenney, K. M., Trimble, S. R., & Thompson, A. A. (2021) · British Journal of Haematology · doi:10.1111/bjh.17920 · Cited by 10
Self-citationGroarke, E. M., Calado, R. T., & Liu, J. M. (2022) · Seminars in Hematology · doi:10.1053/j.seminhematol.2022.01.003 · Cited by 10
Kolnagou, A., Kleanthous, M., & Kontoghiorghes, G. J. (2022) · Frontiers in Bioscience-Elite · doi:10.31083/j.fbe1403018 · Cited by 10
Abraham, D. M., Lozano, R. J., Guitart, X., Liang, J. A., Mortlock, R. D., Espinoza, D. A., Fan, X., Krouse, A. E., Bonifacino, A. C., Hong, S. G., et al. (2022) · Molecular Therapy — Methods & Clinical Development · doi:10.1016/j.omtm.2022.12.001 · Cited by 11
“In human clinical trials with myeloablative conditioning, busulfan resulted in polyclonal profiles of unique integration sites without detection of dominant clones through at least 12 months post-transplantation in almost all patients.(14,15) Furthermore, Biasco and colleagues conducted a study investigating clonal dy…”
BackgroundGenetic disruption of KCC cotransporters in a mouse model of thalassemia intermedia
Shmukler, B. E., Rivera, A., Bhargava, P., et al. (2019) · Blood Cells Molecules and Diseases · doi:10.1016/j.bcmd.2019.102389 · Cited by 10
Innovative Therapies for Hemoglobin Disorders
Sii-Felice, K., Nègre, O., Brendel, C., Tubsuwan, A., Morel-à-l’Huissier, E., Filardo, C., & Payen, E. (2020) · BioDrugs · doi:10.1007/s40259-020-00439-6 · Cited by 10
Self-citationYasara, N., Wickramarathne, N., Mettananda, C. D., Manamperi, A., Premawardhena, A., & Mettananda, S. (2020) · BMJ Open · doi:10.1136/bmjopen-2020-041958 · Cited by 12
Rujkijyanont, P., Monsereenusorn, C., Manoonphol, P., & Traivaree, C. (2018) · Anemia · doi:10.1155/2018/9492303 · Cited by 10
“Although thalassemia disease can be cured by hematologic stem cell transplantation or gene therapy [26], financial limitation is still a major issue especially in developing countries where most of the patients ended up with chronic RBC transfusion.”
BackgroundDecision-making about gene therapy in transfusion dependent thalassemia
Quarmyne, M., Ross, D. C., Sinha, C. B., Bakshi, N., Boudreaux, J. M., & Krishnamurti, L. (2022) · BMC Pediatrics · doi:10.1186/s12887-022-03598-3 · Cited by 10
Lentiviral gene therapy reverts GPIX expression and phenotype in Bernard-Soulier syndrome type C
Martínez-Navajas, G., Ceron-Hernandez, J., Simón, I., Lupiañez, P., Diaz-McLynn, S., Perales, S., Modlich, U., Guerrero, J. A., Martı́n, F., Sevivas, T. S., et al. (2023) · Molecular Therapy — Nucleic Acids · doi:10.1016/j.omtn.2023.06.008 · Cited by 11
Whitney, D., Shestopalov, I. A., Fincker, M., d′Anjou, M., Kral, K., Gayron, M., Pierciey, F. J., & Colvin, R. A. (2023) · Molecular Therapy — Methods & Clinical Development · doi:10.1016/j.omtm.2023.101155 · Cited by 10
“4,5 Furthermore, a ratio of VCN to %LVV+ cells can be calculated before drug product infusion, and upper limits for drug product VCN and VCN/LVV+ cells can be used to control for disproportional transduction, where VCN increases without the bene fi cial increase to %LVV+ cells (Figure S2).”
BackgroundPrime editing: A gene precision editing tool from inception to present
Liu, Z., Guo, D., Wang, D., Zhou, J., Chen, Q., & Lai, J. (2024) · The FASEB Journal · doi:10.1096/fj.202401692r · Cited by 13
Hematopoietic stem and progenitors cells gene editing: Beyond blood disorders
Buffa, V., Vargas, J. R. A., Galy, A. H. M., Spinozzi, S., & Rocca, C. J. (2023) · Frontiers in Genome Editing · doi:10.3389/fgeed.2022.997142 · Cited by 10
“, 2015), or βthalassemia, where a higher percentage of gene-corrected cells correlated with better outcomes (Thompson et al., 2018).”
BackgroundIqbal, M., Mukhamedshin, A., Lezzar, D. L., Abhishek, K., McLennan, A., Lam, F. W., & Shevkoplyas, S. S. (2023) · Blood transfusion · doi:10.2450/bloodtransfus.506 · Cited by 9
In situ correction of various β-thalassemia mutations in human hematopoietic stem cells
Yang, Y., He, L., Xie, Y., Zhu, L., Wu, J., Fan, Y., Yang, Y., & Sun, X. (2024) · Frontiers in Cell and Developmental Biology · doi:10.3389/fcell.2023.1276890 · Cited by 10
Recino, A., Gan, S. U., Sia, K. C., Sawyer, Y., Trendell, J., Kay, R. G., Gribble, F. M., Reimann, F. M., Foale, R., Notaridou, M., et al. (2018) · Gene Therapy · doi:10.1038/s41434-018-0052-5 · Cited by 9
Angrist, M. H., Yang, A., Kantor, B., & Chiba‐Falek, O. (2020) · Life Sciences Society and Policy · doi:10.1186/s40504-020-00106-2 · Cited by 8
Delgado, J., Voltz-Girolt, C., Stain, M., Bałkowiec-Iskra, E., Mueller, B., Wernsperger, J., Malinowska, I., Gisselbrecht, C., Enzmann, H. G., & Pignatti, F. (2021) · HemaSphere · doi:10.1097/hs9.0000000000000616 · Cited by 10
Damerval, M., Fagnoni-Legat, C., Louvrier, A., Fischer, S., Limat, S., Clairet, A., Nerich, V., Madelaine, I., & Kroemer, M. (2021) · Frontiers in Medicine · doi:10.3389/fmed.2021.713047 · Cited by 9
“(27) 2018 Clinical Hospital 0 2 To show the efficacy of the product.”
BackgroundEfficacy and Safety of Gene Therapy for β-Thalassemia
Payen, E. (2022) · New England Journal of Medicine · doi:10.1056/nejme2118580 · Cited by 9
Self-citationLu, D., Xu, Z., Peng, Z., Yang, Y., Song, B., Xiong, Z., Ma, Z., Hongmei, G., Chen, B., Nakamura, Y., et al. (2022) · Frontiers in Genetics · doi:10.3389/fgene.2022.881937 · Cited by 12
Modular Lentiviral Vectors for Highly Efficient Transgene Expression in Resting Immune Cells
Fichter, C., Aggarwal, A., Wong, A. K. H., McAllery, S., Mathivanan, V., Hao, B., MacRae, H. H., Churchill, M. J., Gorry, P. R., Roche, M., et al. (2021) · Viruses · doi:10.3390/v13061170 · Cited by 9
“Lentivirus-mediated gene therapy has shown promising results in recent years [44–46] and has been established to be one of the preferred tools for ex vivo gene delivery, showing wide adoption to treat human diseases.”
BackgroundBusulfan and subsequent malignancy: An evidence‐based risk assessment
Long-Boyle, J. R., Kohn, D. B., Shah, A. J., Spencer, S. M., Sevilla, J., Booth, C., Lorenzo, J. L. L., Nicoletti, E., Shah, A., Reatz, M., et al. (2023) · Pediatric Blood & Cancer · doi:10.1002/pbc.30738 · Cited by 9
Gibson, N. M., Khandros, E., Elgarten, C. W., et al. (2025) · Blood · doi:10.1182/blood.2024027034 · Cited by 8
Self-citationThalassemia in Sub-Saharan Africa: epidemiology, diagnosis, and management – a narrative review
Obeagu, E. I. (2025) · Annals of Medicine and Surgery · doi:10.1097/ms9.0000000000003270 · Cited by 9
“These non-invasive methods offer a safer, more accessible alternative for monitoring iron overload, allowing for earlier intervention and more personalized treatment plans [ 55 ] .”
Retroviral Vector Technology for Gene Therapy: History, Current Landscape, and Future Prospects
Jaballah, S. A., Ali, L. M., Jehad, M. A., Akhlaq, S., Rizvi, T. A., & Mustafa, F. (2025) · Journal of Molecular Biology · doi:10.1016/j.jmb.2025.169473 · Cited by 10
Gene therapy for hemoglobinopathies
Tanhehco, Y. C. (2021) · Transfusion and Apheresis Science · doi:10.1016/j.transci.2021.103061 · Cited by 9
Nomenclature for Cellular and Genetic Therapies: A Need for Standardization
Sharma, A., Farnia, S. H., Otegbeye, F., Rinkle, A., Shah, J., Shah, N. N., Gill, S. I., & Maus, M. V. (2022) · Transplantation and Cellular Therapy · doi:10.1016/j.jtct.2022.08.029 · Cited by 8
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“We have to keep an eye out for both short- and long-term effects of repeated transfusions, such as iron excess and liver damage [6].”
BackgroundForced enhancer-promoter rewiring to alter gene expression in animal models
Peslak, S. A., Demirci, S., Chandra, V., Ryu, B. Y., Bhardwaj, S. K., Jiang, J., Rupon, J. W., Throm, R. E., Uchida, N., Leonard, A. K., et al. (2023) · Molecular Therapy — Nucleic Acids · doi:10.1016/j.omtn.2023.01.016 · Cited by 9
Hemoglobinopathies (Sickle Cell Disease and Thalassemia)
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García-Pérez, L., van Eggermond, M. C. J. A., Maietta, E., van der Hoorn, M., Pike‐Overzet, K., & Staal, F. J. T. (2021) · Frontiers in Immunology · doi:10.3389/fimmu.2020.607991 · Cited by 8
Papayanni, P. G., Psatha, N., Christofi, P., Li, X., Melo, P., Volpin, M., Montini, E., Liu, M., Kaltsounis, G., Yiangou, M., et al. (2021) · Human Gene Therapy · doi:10.1089/hum.2021.142 · Cited by 8
“41,43,44 Insertional oncogenesis has been extensively investigated the last 20 years, whereas expression variegation and silencing, although real for integrating vectors and in a variety of settings, 6,45 remain less well studied.”
Efficacy of Hydroxyurea in Transfusion-Dependent Major β-Thalassemia Patients: A Meta-Analysis
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“No SAE related to GT was noted in this report [70] (Table 2, Row No.6).”
Risk of cancer in patients with thalassemia and sickle cell disease: a systematic review
Merolle, L., Ghirotto, L., Schiroli, D., Balestra, G. L., Venturelli, F., Bassi, M. C., Bartolomeo, E. D., Baricchi, R., & Marraccini, C. (2025) · Annals of Medicine · doi:10.1080/07853890.2025.2522967 · Cited by 8
Cell-Based Gene Therapy for β-Thalassemia
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“, sperm or testicular banking for males [8].”
BackgroundCRISPR technology in human diseases
Feng, Q., Li, Q., Zhou, H., Wang, Z., Lin, C., Jiang, Z., Liu, T., & Wang, D. (2024) · MedComm · doi:10.1002/mco2.672 · Cited by 8
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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