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Long-Term Safety and Efficacy of Factor IX Gene Therapy in Hemophilia B
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BACKGROUND: In patients with severe hemophilia B, gene therapy that is mediated by a novel self-complementary adeno-associated virus serotype 8 (AAV8) vector has been shown to raise factor IX levels for periods of up to 16 months. We wanted to determine the durability of transgene expression, the vector dose-response relationship, and the level of persistent or late toxicity. METHODS: We evaluated the stability of transgene expression and long-term safety in 10 patients with severe hemophilia B: 6 patients who had been enrolled in an initial phase 1 dose-escalation trial, with 2 patients each receiving a low, intermediate, or high dose, and 4 additional patients who received the high dose (2×10(12) vector genomes per kilogram of body weight). The patients subsequently underwent extensive clinical and laboratory monitoring. RESULTS: A single intravenous infusion of vector in all 10 patients with severe hemophilia B resulted in a dose-dependent increase in circulating factor IX to a level that was 1 to 6% of the normal value over a median period of 3.2 years, with observation ongoing. In the high-dose group, a consistent increase in the factor IX level to a mean (±SD) of 5.1±1.7% was observed in all 6 patients, which resulted in a reduction of more than 90% in both bleeding episodes and the use of prophylactic factor IX concentrate. A transient increase in the mean alanine aminotransferase level to 86 IU per liter (range, 36 to 202) occurred between week 7 and week 10 in 4 of the 6 patients in the high-dose group but resolved over a median of 5 days (range, 2 to 35) after prednisolone treatment. CONCLUSIONS: In 10 patients with severe hemophilia B, the infusion of a single dose of AAV8 vector resulted in long-term therapeutic factor IX expression associated with clinical improvement. With a follow-up period of up to 3 years, no late toxic effects from the therapy were reported. (Funded by the National Heart, Lung, and Blood Institute and others; ClinicalTrials.gov number, NCT00979238.).
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“Further studies confirmed that the capsid-specific immune response is dose-dependent and administration of low vector doses of AAV are more likely to induce mild inflammation that is manageable by steroids [86–88].”
From Immunogenicity of Recombinant Adeno-Associated Virus (AAV) Vectors for Gene Transfer (2023) · cites this paper as [87]
In the citing paper
“The initial clinical studies of AAV-based gene transfer targeting liver correlated the AAV-specific cytotoxic T lymphocytes activation with transaminitis and loss of transgene expression”
From Pre-existing humoral immunity and complement pathway contribute to immunogenicity of adeno-associated virus (AAV) vector in human blood (2022) · cites this paper as [39]
In the citing paper
“therefore studies of AAV immunogenicity focused mainly on the adaptive immune responses against AAV-transduced hepatocytes (38, 39).”
From Pre-existing humoral immunity and complement pathway contribute to immunogenicity of adeno-associated virus (AAV) vector in human blood (2022) · cites this paper as [39]
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“Moreover, a recent meta-analysis of clinical trials using hepatic AAV gene transfer concluded that vectors rich in CpG motifs results in failure to achieve sustained expression, owing to activation of capsid specific CD8+ T cells (19–22).”
From Effect of CpG Depletion of Vector Genome on CD8+ T Cell Responses in AAV Gene Therapy (2021) · cites this paper as [19]
In the citing paper
“Antibody formation against capsid was also not impacted by CpG depletion in clinical trials (19, 57).”
From Effect of CpG Depletion of Vector Genome on CD8+ T Cell Responses in AAV Gene Therapy (2021) · cites this paper as [19]
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“These studies however build evidence that short-course CCS alone is likely to be insufficient to inhibit formation of capsid-reactive T cells (13) and rAAV-mediated immune response with systemic high dosages.”
From Immunomodulation in Administration of RAAV: Preclinical and Clinical Adjuvant Pharmacotherapies (2021) · cites this paper as [13]
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“In the subsequent study using AAV8, administration of steroids was able to negate this response and maintain therapeutic FIX levels albeit a 50-70% decline from peak levels (13).”
From Immunomodulation in Administration of RAAV: Preclinical and Clinical Adjuvant Pharmacotherapies (2021) · cites this paper as [13]
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Gene Therapy for Inherited Diseases of Liver Metabolism
Piccolo, P., & Brunetti‐Pierri, N. (2015) · Human Gene Therapy · doi:10.1089/hum.2015.029 · Cited by 12
Preventing bleeds by treatment: new era for haemophilia changing the paradigm
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Gene transfer to the vascular system: Novel translational perspectives for vascular diseases
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Gene Therapy: Will the Promise of Optimizing Lung Allografts Become Reality?
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Intraosseous delivery of platelet-targeted factor VIII lentiviral vector in humanized NBSGW mice
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Gene therapy in haemophilia: literature review and regional perspectives for Turkey
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Novel Gene-Correction-Based Therapeutic Modalities for Monogenic Liver Disorders
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OnTarget: in silico design of MiniPromoters for targeted delivery of expression
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AAV mediated gene therapy for haemophilia B: From the early attempts to modern trials
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Neuraminidase‐mediated desialylation augments AAV9‐mediated gene expression in skeletal muscle
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Evading the AAV Immune Response in Mucopolysaccharidoses
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Improved Genome Editing through Inhibition of FANCM and Members of the BTR Dissolvase Complex
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Metadata
- Authors
- Nathwani, A. C., Reiss, U. M., Tuddenham, E. G. D., Rosales, C., Chowdary, P., McIntosh, J., Della Peruta, M., Lheriteau, E., Patel, N., Raj, D., Riddell, A., Pie, J., Rangarajan, S., Bevan, D., Recht, M., Shen, Y.-M., Halka, K. G., Basner-Tschakarjan, E., Mingozzi, F., High, K. A., Allay, J., Kay, M. A., Ng, C. Y. C., Zhou, J., Cancio, M., Morton, C. L., Gray, J. T., Srivastava, D., Nienhuis, A. W., & Davidoff, A. M.
- Affiliations
- NHS Blood and Transplant (GB)
- Royal Free London NHS Foundation Trust (GB)
- University College London (GB)
- St Thomas' Hospital (GB)
- Oregon Health & Science University (US)
- The University of Texas Southwestern Medical Center (US)
- Children's Hospital of Philadelphia (US)
- St. Jude Children's Research Hospital (US)
- Stanford Medicine (US)
- ORCID
- Venue
- New England Journal of Medicine
- Publisher
- Massachusetts Medical Society
- Published
- 2014-11-20
- Volume
- 371
- Issue
- 21
- Pages
- 1994-2004
- ISSN
- 0028-4793 (ISSN-L)
- 1533-4406
- PMC
- PMC4278802
- OpenAlex
- W1969271703
- Cited by
- 1,273
- References
- 17
- Citations by year
- 2026: 44 · 2025: 64 · 2024: 80 · 2023: 99 · 2022: 118 · 2021: 119 · 2020: 133 · 2019: 125 · 2018: 139 · 2017: 144 · 2016: 108 · 2015: 92 · 2014: 2
- FWCI
- 81.02
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- New England Journal of Medicine (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- HAL (submittedVersion)
- ePrints Soton (University of Southampton) (submittedVersion)
- UCL Discovery (University College London) (submittedVersion)
- Funders
- Howard Hughes Medical Institute
- Assisi Foundation of Memphis
- NHS Blood and Transplant
- American Lebanese Syrian Associated Charities
- National Institute for Health and Care Research (RP-PG-0310-1001, NF-SI-0513-10071)
- University College London
- University College London Hospitals NHS Foundation Trust
- Medical Research Council
- National Heart, Lung, and Blood Institute (HL094396, R01HL094396, R01HL073838, R01HL064274)
- National Cancer Institute (P30CA021765)
- Topics
- Health Sciences › Medicine › Hematology › Hemophilia Treatment and Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Virus-based gene therapy research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › RNA Interference and Gene Delivery
- Keywords
- hemophilia B, AAV8 vector, self-complementary AAV, dose-response relationship, long-term safety, late toxicity, alanine aminotransferase elevation, bleeding events
- MeSH terms
- Dependovirus, Adult, Alanine Transaminase, Hemophilia B, Factor IX, Follow-Up Studies, Genetic Vectors, Humans, Infusions, Intravenous, Male, Middle Aged, Genetic Therapy, Gene Expression, Transgenes, Young Adult
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