The DOI matches its Crossref record; 17 of the 17 references it cites were found in a registry or an index.
Long-Term Safety and Efficacy of Factor IX Gene Therapy in Hemophilia B
Open accessAbstract
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.).
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?
In the citing paper
“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]
In the citing paper
“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]
In the citing paper
“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]
In the citing paper
“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]
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
Manno, C. S., Pierce, G. F., Arruda, V. R., Glader, B., Ragni, M., Rasko, J. J. E., Ozelo, M. C., Hoots, K., Blatt, P., Konkle, B., et al. (2006) · Nature Medicine · doi:10.1038/nm1358 · Cited by 2,163
Self-citationAdenovirus-Associated Virus Vector–Mediated Gene Transfer in Hemophilia B
Nathwani, A. C., Tuddenham, E. G. D., Rangarajan, S., Rosales, C., McIntosh, J., Linch, D. C., Chowdary, P., Riddell, A., Pie, A. J., Harrington, C., et al. (2011) · New England Journal of Medicine · doi:10.1056/nejmoa1108046 · Cited by 1,864
Self-citationAAV-mediated factor IX gene transfer to skeletal muscle in patients with severe hemophilia B
Manno, C. S., Chew, A. J., Hutchison, S., Larson, P. J., Herzog, R. W., Arruda, V. R., Tai, S. J., Ragni, M. V., Thompson, A., Ozelo, M., et al. (2003) · Blood · doi:10.1182/blood-2002-10-3296 · Cited by 749
Self-citationCd8(+) T-Cell Responses to Adeno-Associated Virus Capsid in Humans
Mingozzi, F., Maus, M. V., Hui, D. J., Sabatino, D. E., Murphy, S. L., Rasko, J. E. J., Ragni, M. V., Manno, C. S., Sommer, J., Jiang, H., et al. (2007) · Nature Medicine · doi:10.1038/nm1549 · Cited by 748
Self-citationSnyder, R. O., Miao, C. H., Patijn, G. A., Spratt, S. K., Danos, O., Nagy, D., Gown, A. M., Winther, B., Meuse, L. A., Cohen, L. K., et al. (1997) · Nature Genetics · doi:10.1038/ng0797-270 · Cited by 579
Self-citationHerzog, R. W., Yang, E. Y., Couto, L. B., Hagstrom, J. N., Elwell, D., Fields, P. A., Burton, M., Bellinger, D. A., Read, M. S., Brinkhous, K. M., et al. (1999) · Nature Medicine · doi:10.1038/4743 · Cited by 554
Self-citationHerzog, R. W., Hagstrom, J. N., Kung, S.-H., Tai, S. J., Wilson, J. M., Fisher, K. J., & High, K. A. (1997) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.94.11.5804 · Cited by 474
Self-citationNathwani, A. C., Gray, J. T., Ng, C. Y., Zhou, J., Spence, Y., Waddington, S. N., Tuddenham, E. G. D., Kemball‐Cook, G., McIntosh, J., Boon‐Spijker, M., et al. (2005) · Blood · doi:10.1182/blood-2005-10-4035 · Cited by 419
Self-citationNathwani, A. C., Rosales, C., McIntosh, J., Rastegarlari, G., Nathwani, D., Raj, D., Nawathe, S., Waddington, S. N., Bronson, R., Jackson, S., et al. (2011) · Molecular Therapy · doi:10.1038/mt.2010.274 · Cited by 345
Self-citationNathwani, A. C., Gray, J. T., McIntosh, J., Ng, C. Y., Zhou, J., Spence, Y., Cochrane, M., Gray, E., Tuddenham, E. G. D., & Davidoff, A. M. (2006) · Blood · doi:10.1182/blood-2006-03-010181 · Cited by 269
Self-citation
Flagged first, then by citations
Cited by
Sorted by citations
Items 801–900 of 1,001
Tratamiento moderno de la hemofilia y el desarrollo de terapias innovadoras
Ruiz‐Sàez, A. (2021) · Investigación Clínica · doi:10.22209/ic.v62n1a07 · Cited by 11
Pekrun, K., Stephens, C. J., Gonzalez‐Sandoval, A., Goswami, A., Zhang, F., Tarantal, A. F., Blouse, G. E., & Kay, M. A. (2024) · Molecular Therapy · doi:10.1016/j.ymthe.2024.05.005 · Cited by 10
Self-citationWiggins, K., Winston, S. M., Reeves, I. L., Gaevert, J. A., Spence, Y., Brimble, M. A., Livingston, B., Morton, C. L., Thomas, P. G., Sant, A. J., et al. (2024) · Journal of Virology · doi:10.1128/jvi.00781-24 · Cited by 10
Self-citationSagar, R. L., & David, A. L. (2024) · Best Practice & Research Clinical Obstetrics & Gynaecology · doi:10.1016/j.bpobgyn.2024.102542 · Cited by 11
Shi, X., Bortolussi, G., Collaud, F., Brun, P.-R. L., ten Bloemendaal, L., Guerchet, N., de Waart, D. R., Sellier, P., Duijst, S., Veron, P., et al. (2024) · Molecular Therapy — Methods & Clinical Development · doi:10.1016/j.omtm.2024.101363 · Cited by 10
Self-citationResidual DNA impurities in AAV vectors—nature and transcription
Jen, H., Wilkinson, P. F., Lu, X., & Zhang, W. (2025) · Molecular Therapy — Methods & Clinical Development · doi:10.1016/j.omtm.2025.101503 · Cited by 10
Clinical Use of Toxic Proteins and Peptides from Tian Hua Fen and Scorpion Venom
Ling, C., Zhang, Y., Li, J., Chen, W., & Ling, C. (2018) · Current Protein and Peptide Science · doi:10.2174/1389203719666180622100641 · Cited by 10
Quellec, S. L., Dane, A. P., Barbon, E., Bordet, J., Mingozzi, F., Dargaud, Y. G., Marais, T., Biferi, M. G., Négrier, C., Nathawani, A. C., et al. (2019) · Thrombosis and Haemostasis · doi:10.1055/s-0039-1697658 · Cited by 10
Self-citationHoad, M., Roby, J. A., & Forwood, J. K. (2021) · FEBS Letters · doi:10.1002/1873-3468.14209 · Cited by 10
Sharma, A., Mathew, M. E., Sriganesh, V., & Reiss, U. M. (2020) · Cochrane Database of Systematic Reviews · doi:10.1002/14651858.cd010822.pub4 · Cited by 10
Self-citationDe, B. P., Cram, S., Lee, H., Rosenberg, J. B., Sondhi, D., Crystal, R. G., & Kaminsky, S. M. (2023) · Human Gene Therapy · doi:10.1089/hum.2023.032 · Cited by 9
Asher, D. R., Dai, D., Klimchak, A. C., Sedita, L. E., Gooch, K. L., & Rodino‐Klapac, L. R. (2023) · Molecular Therapy — Methods & Clinical Development · doi:10.1016/j.omtm.2023.08.002 · Cited by 10
Galli, A., Latta, V. D., Bologna, C., Pucciarelli, D., Cipriani, F., Backovic, A., & Cervelli, T. (2017) · Journal of Applied Microbiology · doi:10.1111/jam.13511 · Cited by 10
Biopolymers augment viral vectors based gene delivery
Balakrishnan, B., & David, E. (2019) · Journal of Biosciences · doi:10.1007/s12038-019-9905-3 · Cited by 10
Chimeric Capsid Proteins Impact Transduction Efficiency of Haploid Adeno-Associated Virus Vectors
Chai, Z., Zhang, X., Dobbins, A. L., Frost, E. A., Samulski, R. J., & Li, C. (2019) · Viruses · doi:10.3390/v11121138 · Cited by 10
Gao, M. H., Giamouridis, D., Lai, N. C., Guo, T., Xia, B., Kim, Y. C., Huu, V. A. N., Skowronska‐Krawczyk, D., Lantier, L., Bhargava, R., et al. (2019) · Molecular Therapy — Methods & Clinical Development · doi:10.1016/j.omtm.2019.12.002 · Cited by 10
Aronovich, E. L., Hyland, K. A., Hall, B. C., Bell, J. B., Olson, E. R., Urness, M., Hunter, D. W., Ellinwood, N. M., McIvor, R. S., & Hackett, P. B. (2017) · Human Gene Therapy · doi:10.1089/hum.2017.004 · Cited by 10
Counsell, J. R., Karda, R., Diaz, J. F. A., Carey, L., Wiktorowicz, T., Buckley, S. M. K., Ameri, S., Ng, J., Baruteau, J., Almeida, F., et al. (2018) · Molecular Therapy — Nucleic Acids · doi:10.1016/j.omtn.2018.07.006 · Cited by 10
Advances in gene therapy for hematologic disease and considerations for transfusion medicine
Reddy, O. L., Savani, B. N., Stroncek, D. F., & Panch, S. R. (2020) · Seminars in Hematology · doi:10.1053/j.seminhematol.2020.07.004 · Cited by 10
Delivering efficient liver-directed AAV-mediated gene therapy
Baruteau, J., Waddington, S. N., Alexander, I. E., & Gissen, P. (2017) · Gene Therapy · doi:10.1038/gt.2016.90 · Cited by 10
Measuring success in hemophilia gene therapy using a factor level & outcomes yardstick
Machin, N., & Ragni, M. V. (2018) · Expert Review of Hematology · doi:10.1080/17474086.2018.1423961 · Cited by 10
Gene therapy for cardiac arrhythmias
Bains, S., Giudicessi, J. R., Odening, K. E., & Ackerman, M. (2025) · Nature Reviews Cardiology · doi:10.1038/s41569-025-01168-5 · Cited by 10
Vetores virais para uso em terapia gênica
Oliveira, B. D. A., França, E. D. S., Souza, V. G., Vallinoto, A. C. R., & da Silva, A. N. M. R. (2018) · Revista Pan-Amazônica de Saúde · doi:10.5123/s2176-62232018000200008 · Cited by 9
Basic and Clinical Application of Adeno-Associated Virus–Mediated Genome Editing
He, X., Xie, H., Liu, X., & Gu, F. (2018) · Human Gene Therapy · doi:10.1089/hum.2018.190 · Cited by 7
Rghei, A. D., van Lieshout, L. P., McLeod, B. M., Pei, Y., Lopes, J. A., Zielinska, N., Baracuhy, E. M., Stevens, B. A. Y., Thomas, S. P., Yates, J. G. E., et al. (2021) · Biomedicines · doi:10.3390/biomedicines9091186 · Cited by 9
Bile Pigment Metabolism and Its Disorders
Roy‐Chowdhury, N., Xia, W., & Roy‐Chowdhury, J. (2019) · Elsevier eBooks · doi:10.1016/b978-0-12-812532-8.00019-7 · Cited by 9
Forgham, H., Liu, L., Zhu, J., Javed, I., Cai, W., Qiao, R., & Davis, T. P. (2023) · Coordination Chemistry Reviews · doi:10.1016/j.ccr.2023.215172 · Cited by 9
Minno, G. D., Spadarella, G., Maldonato, N. M., Lucia, N. D., Castaman, G., CRISTOFARO, R. D., Santoro, C., Peyvandi, F., Borrelli, A., Lupi, A., et al. (2023) · Blood Reviews · doi:10.1016/j.blre.2023.101118 · Cited by 11
Gene therapy for cystic fibrosis: recent progress and current aims
Paul-Smith, M. C., Bell, R. V., Alton, W. E., Alton, E. W. F. W., & Uta Griesenbach, D. (2016) · Expert Opinion on Orphan Drugs · doi:10.1080/21678707.2016.1180974 · Cited by 9
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
Self-citationGentherapien für neuromuskuläre Erkrankungen
Saffari, A., Weiler, M., Hoffmann, G. F., & Ziegler, A. (2019) · Der Nervenarzt · doi:10.1007/s00115-019-0761-z · Cited by 9
Hemophilia Gene Therapy: New Development from Bench to Bed Side
Guo, X., Chung, T., Qin, Y., Zheng, J., Zheng, H., Sheng, L., Wynn, T., & Chang, L. (2019) · Current Gene Therapy · doi:10.2174/1566523219666190924121836 · Cited by 9
Use of Adeno-associated viral vectors to improve delivery of a DNA vaccine against dengue virus
Slon-Campos, J., Poggianella, M., Zentilin, L., & Burrone, Ó. R. (2019) · Journal of General Virology · doi:10.1099/jgv.0.001351 · Cited by 9
Membrane fusion FerA domains enhance adeno-associated virus vector transduction
Zhang, X., Anthony, B., Chai, Z., Dobbins, A. L., Sutton, R. B., & Li, C. (2020) · Biomaterials · doi:10.1016/j.biomaterials.2020.119906 · Cited by 9
Zhang, F., Yan, X., Li, M., Hua, B., Xiao, X., Monahan, P. E., & Sun, J. (2020) · Human Gene Therapy · doi:10.1089/hum.2019.355 · Cited by 10
Krooss, S. A., Werwitzke, S., Kopp, J., Rovai, A., Varnholt, D., Wachs, A. S., Goyenvalle, A., Aartsma-Rus, A. M., Ott, M., Tiede, A., et al. (2020) · PLoS Genetics · doi:10.1371/journal.pgen.1008690 · Cited by 9
Berntorp, E. E. (2016) · Haemophilia · doi:10.1111/hae.13025 · Cited by 9
Plasma-derived versus recombinant factor concentrates in PUPs: a never ending debate?
Berntorp, E. E. (2016) · Hämostaseologie · doi:10.5482/hamo-16-10-0040 · Cited by 9
Gene editing in hemophilia: a “CRISPR” choice?
Pipe, S. W., & Selvaraj, S. R. (2019) · Blood · doi:10.1182/blood.2019001180 · Cited by 9
An Emerging Era of Clinical Benefit From Gene Therapy
Malech, H. L., & Ochs, H. D. (2015) · JAMA · doi:10.1001/jama.2015.2055 · Cited by 10
Brunetti‐Pierri, N., & Newsome, P. N. (2016) · Journal of Hepatology · doi:10.1016/j.jhep.2016.07.006 · Cited by 9
Synthetic dosage-compensating miRNA circuits for quantitative gene therapyPreprint
Flynn, M. J., Mayfield, A., Du, R., Gradinaru, V., & Elowitz, M. B. (2024) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2024.03.13.584179 · Cited by 12
Yuan, L., Ling, C., Shoti, J., Yang, H., Nath, A., Keeler, G. D., Qing, K., & Srivastava, A. (2024) · Molecular Therapy — Nucleic Acids · doi:10.1016/j.omtn.2024.102196 · Cited by 9
Stack, J. T., Rayner, R. E., Nouri, R., Suarez, C. J., Kim, S. H., Kanke, K. L., Vetter, T. A., Cormet‐Boyaka, E., & Vaidyanathan, S. (2024) · Molecular Therapy — Nucleic Acids · doi:10.1016/j.omtn.2024.102339 · Cited by 8
iPSC-hepatocyte organoids as a novel platform to predict AAV gene therapy efficacy
Berreur, E., Lazzaroni, G., Roth, C., Zihlmann, M., Stirn, M., Matheis, R., Xicluna, R., Breous-Nystrom, E., & Roth, A. B. (2025) · Molecular Therapy — Methods & Clinical Development · doi:10.1016/j.omtm.2025.101467 · Cited by 10
Ravindran, D., Rao, R., Mundisugih, J., Titus, T., Tsurusaki, S., Kok, C., Rashid, F. N., Igoor, S., Kotake, Y., Kumar, S., et al. (2025) · Gene Therapy · doi:10.1038/s41434-025-00553-6 · Cited by 9
AAVLINK: A potent DNA-recombination method for large cargo delivery in gene therapy
Lin, J., Lin, Y., Liu, N., Cao, W., Zhang, J., Wen, S., Zhang, Y., Liao, W., Hong, Z., Lin, Y., et al. (2026) · Cell · doi:10.1016/j.cell.2025.12.039 · Cited by 12
Application of Viruses for Gene Therapy and Vaccine Development
Lundstrom, K. H. (2022) · Advances in environmental microbiology · doi:10.1007/978-3-030-85395-2_9 · Cited by 8
Li, N., & Song, Y. (2022) · Genes · doi:10.3390/genes13112021 · Cited by 9
Non-viral and viral delivery systems for hemophilia A therapy: recent development and prospects
Zangi, A. R., Amiri, A., Pazooki, P., Soltanmohammadi, F., Hamishehkar, H., & Javadzadeh, Y. (2023) · Annals of Hematology · doi:10.1007/s00277-023-05459-0 · Cited by 8
Current status of treatment and disease burden of a cohort of hemophilia B in China
Huang, Y., Wan, C., Guan, T., & Xi, X. (2024) · Frontiers in Public Health · doi:10.3389/fpubh.2023.1303787 · Cited by 8
Gene therapy for hemophilia B: results from the phase 1/2 101HEMB01/02 studies
Pipe, S. W., Poma, A., Rajasekhar, A., Everington, T., Sankoh, S., Allen, J., Cataldo, J., & Crombez, E. A. (2025) · Blood Advances · doi:10.1182/bloodadvances.2024015184 · Cited by 8
Chai, Z., Zhang, X., Rigsbee, K. M., Wang, M., Samulski, R. J., & Li, C. (2018) · Journal of Controlled Release · doi:10.1016/j.jconrel.2018.08.018 · Cited by 8
Chen, V. P., Gao, Y., Geng, L., Steele, M., Jenks, N. J., Peng, K.-W., & Brimijoin, S. (2019) · Human Gene Therapy · doi:10.1089/hum.2019.233 · Cited by 8
Gene Therapy for Hemophilia A: Where We Stand
Zhou, M., Hu, Z., Zhang, C., Wu, L., Li, Z., & Liang, D. (2020) · Current Gene Therapy · doi:10.2174/1566523220666200806110849 · Cited by 8
Li, J., Chen, J., Schroeder, J. A., Hu, J., Williams, C. B., & Shi, Q. (2021) · Molecular Therapy — Nucleic Acids · doi:10.1016/j.omtn.2020.12.026 · Cited by 8
Lisjak, M., Iaconcig, A., Guarnaccia, C., Vicidomini, A., Moretti, L., Collaud, F., Ronzitti, G., Zentilin, L., & Muro, A. F. (2023) · Molecular Therapy — Methods & Clinical Development · doi:10.1016/j.omtm.2023.08.022 · Cited by 10
Gene Delivery into Cells and Tissues
Duvall, C. L., Prokop, A., Gersbach, C. A., & Davidson, J. M. (2013) · Elsevier eBooks · doi:10.1016/b978-0-12-398358-9.00035-5 · Cited by 8
Iizuka, S., Sakurai, F., Tachibana, M., Ohashi, K., & Mizuguchi, H. (2017) · Molecular Therapy — Methods & Clinical Development · doi:10.1016/j.omtm.2017.07.001 · Cited by 8
Combination Therapy Is the New Gene Therapy?
Ronzitti, G., & Mingozzi, F. (2017) · Molecular Therapy · doi:10.1016/j.ymthe.2017.12.008 · Cited by 8
Self-citationIlle, A. M., Kishel, E., Bodea, R., Ille, A. L., Lamont, H., & Amico-Ruvio, S. A. (2020) · Journal of NeuroVirology · doi:10.1007/s13365-020-00890-9 · Cited by 8
Advances in designing Adeno-associated viral vectors for development of anti-HBV gene therapeutics
Mnyandu, N., Limani, S. W., Arbuthnot, P. B., & Maepa, M. B. (2021) · Virology Journal · doi:10.1186/s12985-021-01715-9 · Cited by 9
Zheng, Q., Zhang, X., Yang, H., Xie, J., Xie, Y., Chen, J., Yu, C., & Chen, Z. (2019) · Viruses · doi:10.3390/v11100920 · Cited by 8
Eshghi, S., Bakhtiari, M. M., Behfar, M., Izadi, E., Naji, P., Jafari, L., Mohseni, R., Saltanatpour, Z., & Hamidieh, A. A. (2024) · Regenerative Therapy · doi:10.1016/j.reth.2024.12.007 · Cited by 8
Liu, H., Liu, N., Zhou, C., Du, A., Kapadia, M., Tai, P. W. L., Barton, E. S., Gao, G., & Wang, D. (2025) · EMBO Molecular Medicine · doi:10.1038/s44321-025-00248-w · Cited by 7
Recent Advances in Gene Therapy for Hemophilia
Pang, X., Fu, J., Zhou, Z., Tang, N., Lau, C., Wen, Y., Chen, P., Zhao, J., & Xue, H. (2025) · Clinical and Applied Thrombosis/Hemostasis · doi:10.1177/10760296251378455 · Cited by 9
Immunogenicity of Therapeutic Biological Modalities - Lessons from Hemophilia A Therapies
Nguyen, N. H., Jarvi, N. L., & Balu‐Iyer, S. V. (2023) · Journal of Pharmaceutical Sciences · doi:10.1016/j.xphs.2023.05.014 · Cited by 7
Jiang, F., Zhang, C., Liu, W., Liu, F., Huang, H., Tan, Y. F., & Qin, B. (2023) · Frontiers in Cellular and Infection Microbiology · doi:10.3389/fcimb.2023.1301915 · Cited by 9
Yuan, Y., Higashiyama, K., Hashiba, N., Masumi‐Koizumi, K., Yusa, K., & Uchida, K. (2023) · Human Gene Therapy · doi:10.1089/hum.2023.148 · Cited by 7
Gan, C., Leng, M., Liu, Y., Zheng, Z., He, S., Qiao, W., Lin, X., Xiao, Y., Ye, J., Zhou, L., et al. (2024) · Molecular Therapy — Methods & Clinical Development · doi:10.1016/j.omtm.2024.101399 · Cited by 7
Self-citationGene therapy: Myth or reality?
Fischer, A. (2016) · Comptes Rendus Biologies · doi:10.1016/j.crvi.2016.04.011 · Cited by 10
Navigating Speed Bumps on the Innovation Highway in Hemophilia Therapeutics
DiMichele, D. (2018) · HemaSphere · doi:10.1097/hs9.0000000000000144 · Cited by 7
Advances in gene therapy for hemophilia
Robles‐Rodríguez, O. A., Perez‐Trujillo, J. J., Villanueva-Olivo, A., Martinez, L. V., Marfil‐Rivera, L. J., Rodríguez‐Rocha, H., García‐García, A., Cárdenas, O. S., Loera‐Arias, M. D. J., & Montes‐de‐Oca‐Luna, R. (2020) · Journal of Biosciences · doi:10.1007/s12038-020-00057-y · Cited by 7
Factor VIII: Perspectives on Immunogenicity and Tolerogenic Strategies for Hemophilia A Patients.
Khalilian, S., Motovali-Bashi, M., & Rezaie, H. (2020) · PubMed Central · doi:10.22088/ijmcm.bums.9.1.33 · Cited by 7
Laforêt, P., Oldfors, A., Malfatti, E., Vissing, J., Colle, M.-A., Durán, J., Gentry, M. S., Guinovart, J. J., Hurley, T. D., Kakhlon, O., et al. (2021) · Neuromuscular Disorders · doi:10.1016/j.nmd.2021.01.010 · Cited by 7
Self-citationHeterogeneity in Bleeding Tendency and Arthropathy Development in Individuals with Hemophilia
Rehill, A. M., McCluskey, S., O’Donnell, J. S., Dockal, M., Preston, R. J. S., & on behalf of the iPATH Study Group (2021) · Seminars in Thrombosis and Hemostasis · doi:10.1055/s-0041-1723769 · Cited by 7
Genome editing in the human liver: Progress and translational considerations
Ginn, S. L., Christina, S., & Alexander, I. E. (2021) · Progress in molecular biology and translational science · doi:10.1016/bs.pmbts.2021.01.030 · Cited by 7
Wang, Y., Chu, X., & Wang, B. (2021) · PubMed Central · doi:10.3877/cma.j.issn.2096-112x.2021.01.004 · Cited by 7
Kruse, R. L., Huang, Y., Shum, T., Bai, L., Ding, H., Wang, Z., Selaru, F. M., & Kumbhari, V. (2021) · Gastrointestinal Endoscopy · doi:10.1016/j.gie.2021.06.016 · Cited by 7
Ahmad, A., Mandwie, M., Dreismann, A. K., Smyth, C. M., Doyle, H. J., Malik, T. H., Pickering, M. C., Lachmann, P. J., Alexander, I. E., & Logan, G. J. (2021) · Human Gene Therapy · doi:10.1089/hum.2021.022 · Cited by 7
Bullinger, M., Latibeaudiere, D., Lewis, H. B., Miesbach, W., Nolte, S., O’Hara, J., O’Mahony, B., Pollard, D., Skinner, M. W., & Quinn, J. (2021) · The Journal of Haemophilia Practice · doi:10.17225/jhp00176 · Cited by 7
Ultra-sensitive AAV capsid detection by immunocapture-based qPCR following factor VIII gene transfer
Sandza, K., Clark, A., Koziol, E., Akeefe, H., Yang, F., Holcomb, J., Patton, K., Hammon, K., Mitchell, N., Wong, W. Y., et al. (2021) · Gene Therapy · doi:10.1038/s41434-021-00287-1 · Cited by 8
Seroprevalence to adeno‐associated virus type 6 in people with hemophilia B from a UK adult cohort
Boyce, S., James, I., Rangarajan, S., Curry, N. S., Bagot, C. N., Austin, S. K., Laffan, M., Mangles, S., Chandrakumaran, K., & Mundy, C. (2022) · Research and Practice in Thrombosis and Haemostasis · doi:10.1002/rth2.12705 · Cited by 6
Self-citationHasyim, A. A., Iyori, M., Mizuno, T., Abe, Y.-I., Yamagoshi, I., Yusuf, Y., Syafira, I., Shahnaij, M., Sakamoto, A., Yamamoto, Y., et al. (2022) · Parasitology International · doi:10.1016/j.parint.2022.102652 · Cited by 7
Rana, J., Marsic, D., Zou, C., Muñoz-Melero, M., Li, X., Kondratov, O., Li, N., de Jong, Y. P., Zolotukhin, S., & Biswas, M. (2023) · Human Gene Therapy · doi:10.1089/hum.2022.176 · Cited by 7
Biochemical Correction of GM2 Ganglioside Accumulation in AB-Variant GM2 Gangliosidosis
Deschenes, N. M., Cheng, C., Ryckman, A. E., Quinville, B. M., Khanal, P., Mitchell, M., Chen, Z., Sangrar, W., Gray, S. J., & Walia, J. S. (2023) · International Journal of Molecular Sciences · doi:10.3390/ijms24119217 · Cited by 8
Deng, M., Zhou, H., He, S., Qiu, H., Wang, Y., Zhao, A. Y., Mu, Y., Li, F., & Zhao, A. Z. (2023) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-023-02894-0 · Cited by 8
Smith, M. C., Belur, L. R., Karlen, A. D., Erlanson, O., Furcich, J. W., Lund, T. C., Seelig, D. M., Kitto, K. F., Fairbanks, C. A., Kim, K. H., et al. (2024) · Molecular Therapy — Methods & Clinical Development · doi:10.1016/j.omtm.2024.101201 · Cited by 8
Usual and unusual mutations in a cohort of Belgian patients with hemophilia B
Lannoy, N., Lambert, C., Farrugia, A., Damme, A. V., & Hermans, C. R. J. R. (2016) · Thrombosis Research · doi:10.1016/j.thromres.2016.11.006 · Cited by 6
Blood, Blood Components, Plasma, and Plasma Products
Opsha, Y., & Brophy, A. (2015) · Side effects of drugs annual · doi:10.1016/bs.seda.2015.05.003 · Cited by 7
FIX It in One Go: Enhanced Factor IX Gene Therapy for Hemophilia B
Lillicrap, D. (2017) · Cell · doi:10.1016/j.cell.2017.11.049 · Cited by 7
Gene Therapy for Hemophilia and Duchenne Muscular Dystrophy in China
Liu, X., Liu, M., Wu, L., & Liang, D. (2018) · Human Gene Therapy · doi:10.1089/hum.2017.213 · Cited by 7
Kuroda, M., Saitō, Y., Aso, M., & Yokote, K. (2018) · Chemical and Pharmaceutical Bulletin · doi:10.1248/cpb.c17-00786 · Cited by 7
Small Molecule Catalysts with Therapeutic Potential
Ney, Y., Nasim, M. J., Kharma, A., Youssef, L. A., & Jacob, C. (2018) · Molecules · doi:10.3390/molecules23040765 · Cited by 8
Gene-based FVIIa prophylaxis modulates the spontaneous bleeding phenotype of hemophilia A rats
Zintner, S. M., Small, J. C., Pavani, G., Dankner, L. E., Marcos-Contreras, O. A., Gimotty, P. A., Kjelgaard-Hansen, M. J., Wiinberg, B., & Margaritis, P. (2019) · Blood Advances · doi:10.1182/bloodadvances.2018027219 · Cited by 7
Gene therapy. The legacy of Wacław Szybalski
Dulak, J. (2021) · Acta Biochimica Polonica · doi:10.18388/abp.2020_5805 · Cited by 7
Application of Genetic Engineering in Biotherapeutics Development
Schweickert, P. G., & Cheng, Z. (2019) · Journal of Pharmaceutical Innovation · doi:10.1007/s12247-019-09411-6 · Cited by 8
Gene Therapy with Adeno-associated Virus for Cystic Fibrosis
Karda, R., Buckley, S. M. K., & Waddington, S. N. (2016) · American Journal of Respiratory and Critical Care Medicine · doi:10.1164/rccm.201510-2024ed · Cited by 7
Kwon, H.-J., Qing, K., Ponnazhagan, S., Wang, X.-S., Markusic, D. M., Gupte, S., Boye, S. E., & Srivastava, A. (2020) · Human Gene Therapy · doi:10.1089/hum.2020.018 · Cited by 6
Chen, X., Sun, M., Ma, X., Ma, Y., & Chen, B. (2024) · Molecular Therapy — Methods & Clinical Development · doi:10.1016/j.omtm.2024.101390 · Cited by 6
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
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
