The DOI matches its Crossref record; 39 of the 40 references it cites were found in a registry or an index.
Efficacy and long-term safety of alipogene tiparvovec (AAV1-LPLS447X) gene therapy for lipoprotein lipase deficiency: an open-label trial
Open accessAbstract
We describe the 2-year follow-up of an open-label trial (CT-AMT-011-01) of AAV1-LPL(S447X) gene therapy for lipoprotein lipase (LPL) deficiency (LPLD), an orphan disease associated with chylomicronemia, severe hypertriglyceridemia, metabolic complications and potentially life-threatening pancreatitis. The LPL(S447X) gene variant, in an adeno-associated viral vector of serotype 1 (alipogene tiparvovec), was administered to 14 adult LPLD patients with a prior history of pancreatitis. Primary objectives were to assess the long-term safety of alipogene tiparvovec and achieve a ≥40% reduction in fasting median plasma triglyceride (TG) at 3-12 weeks compared with baseline. Cohorts 1 (n=2) and 2 (n=4) received 3 × 10(11) gc kg(-1), and cohort 3 (n=8) received 1 × 10(12) gc kg(-1). Cohorts 2 and 3 also received immunosuppressants from the time of alipogene tiparvovec administration and continued for 12 weeks. Alipogene tiparvovec was well tolerated, without emerging safety concerns for 2 years. Half of the patients demonstrated a ≥40% reduction in fasting TG between 3 and 12 weeks. TG subsequently returned to baseline, although sustained LPL(S447X) expression and long-term changes in TG-rich lipoprotein characteristics were noted independently of the effect on fasting plasma TG.
Overview
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
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
“A triple regimen of ciclosporin, mycophenolate and corticosteroids was used in patients receiving high vector doses (Gaudet et al., 2012), an established immunosuppression regimen used to prevent solid organ transplant rejection (Nelson et al., 2022). Initially, transient T cell activation was still seen in 64 % of patients.”
From Gene Therapy-Associated Uveitis (GTAU): Understanding and mitigating the adverse immune response in retinal gene therapy (2025) · cites this paper as Gaudet et al., 2012
Experimental — accuracy not yet measuredIn the citing paper
“The fi rst approved AAV gene therapy drug was Glybera for treating lipoprotein lipase de fi ciency using AAV1 vector (7), which was approved in Europe in 2012.”
From A versatile toolkit for overcoming AAV immunity (2022) · cites this paper as [7]
In the citing paper
“In all patients, anti-AAV antibodies were not affected by immunosuppressants, and T cell response was observed in most patients (7).”
From A versatile toolkit for overcoming AAV immunity (2022) · cites this paper as [7]
In the citing paper
“Unfortunately, TG drifted back to baseline levels within 6 months, although a few exceptional cases experienced sustained benefits.84–87”
From Clinical review on triglycerides (2020) · cites this paper as [84]
In the citing paper
“Spinal anaesthesia was needed for intramuscular injections of the adeno-associated virus subtype 1 vector carrying hyperfunctional LPL p.S447X; TG normalized within 12 weeks.84–86”
From Clinical review on triglycerides (2020) · cites this paper as [84]
In the citing paper
“FCH has no monogenic component and is not linked to a single genetic cause, but the phenotype is high LDL-C and/or high TGs [358,359].”
From 2019 ESC/EAS guidelines for the management of dyslipidaemias: lipid modification to reduce cardiovascular risk (2019) · cites this paper as [359]
In the citing paper
“Recently, gene therapy for LPL deficiency has been developed and tested in clinical trials 305 and the alipogene tiparvovec was approved by the EMA in 2013.”
From 2016 ESC/EAS Guidelines for the Management of Dyslipidaemias (2016) · cites this paper as [305]
In the citing paper
“In the initial regimen, 9/14 subjects showed humoral and cellular response against rAAV1 (77).”
From Immunomodulation in Administration of RAAV: Preclinical and Clinical Adjuvant Pharmacotherapies (2021) · cites this paper as [77]
In the citing paper
“Acute pancreatitis can lead to chronic pancreatitis, 10,11 signs of exocrine or endocrine pancreatic insufficiency, including pancreatic (type 3c) diabetes, 12 and can be fatal.”
From Familial chylomicronemia syndrome: Bringing to life dietary recommendations throughout the life span (2018) · cites this paper as [12]
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Citations
Cites
The Metabolic Basis of Inherited Disease.
(1972) · Annals of Internal Medicine · doi:10.7326/0003-4819-76-5-839_2 · Cited by 1,320
Lipoprotein lipase and lipolysis: central roles in lipoprotein metabolism and atherogenesis
Goldberg, I. J. (1996) · Journal of Lipid Research · doi:10.1016/s0022-2275(20)37569-6 · Cited by 1,029
Lipoprotein lipase: structure, function, regulation, and role in disease
Mead, J. R., Irvine, S. A., & Ramji, D. P. (2002) · Journal of Molecular Medicine · doi:10.1007/s00109-002-0384-9 · Cited by 962
Gene therapy using adeno-associated virus vectors
Daya, S., & Berns, K. I. (2008) · Clinical Microbiology Reviews · doi:10.1128/cmr.00008-08 · Cited by 926
Mahley, R. W., & Ji, Z.-S. (1999) · Journal of Lipid Research · doi:10.1016/s0022-2275(20)33334-4 · Cited by 693
(1995) · PubMed · Cited by 423
Flotte, T. R., Trapnell, B. C., Humphries, M., Carey, B., Calcedo, R., Rouhani, F., Campbell-Thompson, M., Yachnis, A. T., Sandhaus, R. A., McElvaney, N. G., et al. (2011) · Human Gene Therapy · doi:10.1089/hum.2011.053 · Cited by 335
Jiang, H., Couto, L. B., Patarroyo-White, S., Liu, T., Nagy, D., Vargas, J. A., Zhou, S., Scallan, C. D., Sommer, J., Vijay, S., et al. (2006) · Blood · doi:10.1182/blood-2006-04-017913 · Cited by 330
Brantly, M. L., Chulay, J. D., Wang, L., Mueller, C., Humphries, M., Spencer, L. T., Rouhani, F., Conlon, T. J., Calcedo, R., Betts, M. R., et al. (2009) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0904514106 · Cited by 327
Benlian, P., Gennes, J. L. D., Foubert, L., Zhang, H., Gagné, S., & Hayden, M. R. (1996) · New England Journal of Medicine · doi:10.1056/nejm199609193351203 · Cited by 296
Flagged first, then by citations
1 of the 40 references couldn’t be matched to a known paper.
Cited by
Sorted by citations
Mach, F., Baigent, C., Catapano, A. L., Koskinas, K. C., Casula, M., Badimon, L., Chapman, M. J., De Backer, G. G., Delgado, V., Ference, B. A., et al. (2020) · European Heart Journal · doi:10.1093/eurheartj/ehz455 · Cited by 8,961
Mach, F., Baigent, C., Catapano, A. L., Koskinas, K. C., Casula, M., Badimon, L., Chapman, M. J., De Backer, G. G., Delgado, V., Ference, B. A., et al. (2019) · Atherosclerosis · doi:10.1016/j.atherosclerosis.2019.08.014 · Cited by 4,854
2016 ESC/EAS Guidelines for the Management of Dyslipidaemias
Catapano, A. L., Graham, I., De Backer, G., Wiklund, O., Chapman, M. J., Drexel, H., Hoes, A. W., Jennings, C. S., Landmesser, U., Pedersen, T. R., et al. (2016) · European Heart Journal · doi:10.1093/eurheartj/ehw272 · Cited by 3,162
2016 ESC/EAS Guidelines for the Management of Dyslipidaemias
Catapano, A. L., Graham, I., De Backer, G., Wiklund, O., Chapman, M. J., Drexel, H., Hoes, A. W., Jennings, C. S., Landmesser, U., Pedersen, T. R., et al. (2016) · Atherosclerosis · doi:10.1016/j.atherosclerosis.2016.08.018 · Cited by 1,582
Dunbar, C. E., High, K. A., Joung, J. K., Kohn, D. B., Ozawa, K., & Sadelain, M. (2018) · Science · doi:10.1126/science.aan4672 · Cited by 1,410
Metadata
- Authors
- Gaudet, D., Méthot, J., Déry, S., Brisson, D., Essiembre, C., Tremblay, G., Tremblay, K., de Wal, J., Twisk, J., van den Bulk, N., Sier-Ferreira, V, & van Deventer, S.
- Affiliations
- Hôpital de Chicoutimi (CA)
- Corresponding author
- Gaudet, D
- Venue
- Gene Therapy
- Published
- 2012-06-21
- Volume
- 20
- Issue
- 4
- Pages
- 361-369
- ISSN
- 0969-7128 (ISSN-L)
- 1476-5462
- PMC
- PMC4956470
- OpenAlex
- W2067074806
- Cited by
- 404
- References
- 40
- Citations by year
- 2026: 12 · 2025: 17 · 2024: 17 · 2023: 25 · 2022: 23 · 2021: 22 · 2020: 32 · 2019: 33 · 2018: 31 · 2017: 38 · 2016: 33 · 2015: 50 · 2014: 40 · 2013: 25 · 2012: 4
- FWCI
- 24.49
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Gene Therapy (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Funders
- Heart and Stroke Foundation of Canada
- Canada Research Chairs
- Health Canada
- Canadian Institutes of Health Research (82941_1)
- Topics
- Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Lipid metabolism and disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Virus-based gene therapy research
- Health Sciences › Medicine › Genetics (clinical) › Lysosomal Storage Disorders Research
- Keywords
- lipoprotein lipase deficiency, long-term safety, hypertriglyceridemia, triglyceride-rich lipoproteins, immunosuppression, pancreatitis, chylomicronemia
- MeSH terms
- Dependovirus, Adult, Drug Tolerance, Fasting, Female, Humans, Immunosuppressive Agents, Lipoprotein Lipase, Hyperlipoproteinemia Type I, Male, Middle Aged, Pancreatitis, Prospective Studies, Triglycerides, Genetic Therapy, Treatment Outcome
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
