Efficacy, safety, and quality of life 4 years after valoctocogene roxaparvovec gene transfer for severe hemophilia A in the phase 3 GENEr8-1 trial

Background: Valoctocogene roxaparvovec, an adeno-associated virus-mediated gene therapy for severe hemophilia A, enables endogenous factor (F)VIII expression and provides bleed protection. Objectives: Determine valoctocogene roxaparvovec durability, efficacy, and safety 4 years after treatment. Meth...

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Main Authors: Andrew D. Leavitt, Johnny Mahlangu, Priyanka Raheja, Emily Symington, Doris V. Quon, Adam Giermasz, Maria Fernanda López Fernández, Gili Kenet, Gillian Lowe, Nigel S. Key, Carolyn M. Millar, Steven W. Pipe, Bella Madan, Sheng-Chieh Chou, Robert Klamroth, Jane Mason, Hervé Chambost, Flora Peyvandi, Elaine Majerus, Dominic Pepperell, Christine Rivat, Hua Yu, Tara M. Robinson, Margareth C. Ozelo
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Language:English
Published: Elsevier 2024-11-01
Series:Research and Practice in Thrombosis and Haemostasis
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Online Access:http://www.sciencedirect.com/science/article/pii/S2475037924003108
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author Andrew D. Leavitt
Johnny Mahlangu
Priyanka Raheja
Emily Symington
Doris V. Quon
Adam Giermasz
Maria Fernanda López Fernández
Gili Kenet
Gillian Lowe
Nigel S. Key
Carolyn M. Millar
Steven W. Pipe
Bella Madan
Sheng-Chieh Chou
Robert Klamroth
Jane Mason
Hervé Chambost
Flora Peyvandi
Elaine Majerus
Dominic Pepperell
Christine Rivat
Hua Yu
Tara M. Robinson
Margareth C. Ozelo
author_facet Andrew D. Leavitt
Johnny Mahlangu
Priyanka Raheja
Emily Symington
Doris V. Quon
Adam Giermasz
Maria Fernanda López Fernández
Gili Kenet
Gillian Lowe
Nigel S. Key
Carolyn M. Millar
Steven W. Pipe
Bella Madan
Sheng-Chieh Chou
Robert Klamroth
Jane Mason
Hervé Chambost
Flora Peyvandi
Elaine Majerus
Dominic Pepperell
Christine Rivat
Hua Yu
Tara M. Robinson
Margareth C. Ozelo
author_sort Andrew D. Leavitt
collection DOAJ
description Background: Valoctocogene roxaparvovec, an adeno-associated virus-mediated gene therapy for severe hemophilia A, enables endogenous factor (F)VIII expression and provides bleed protection. Objectives: Determine valoctocogene roxaparvovec durability, efficacy, and safety 4 years after treatment. Methods: In the phase 3 GENEr8-1 trial, 134 adult male persons with severe hemophilia A without inhibitors and previously using FVIII prophylaxis received a 6 × 1013 vg/kg infusion of valoctocogene roxaparvovec. Efficacy endpoints included annualized bleed rate, annualized FVIII infusion rate, FVIII activity, and the Haemophilia-Specific Quality of Life Questionnaire for Adults. Adverse events and immunosuppressant use were assessed. Change from baseline was assessed after participants discontinued prophylaxis (scheduled for week 4). Results: Median follow-up was 214.3 weeks; 2 participants discontinued since the previous data cutoff. Declines from baseline in mean treated annualized bleed rate (−82.6%; P < .0001) and annualized FVIII infusion rate (−95.5%; P < .0001) were maintained from previous years in the primary analysis population of 112 participants who enrolled from a noninterventional study. During year 4, 81 of 110 rollover participants experienced 0 treated bleeds. Week 208 mean and median chromogenic FVIII activity were 16.1 IU/dL and 6.7 IU/dL, respectively, in 130 modified intention-to-treat participants. Seven participants resumed prophylaxis since the previous data cutoff. Mean change from baseline to week 208 in Haemophilia-Specific Quality of Life Questionnaire for Adults Total Score (P < .0001) remained clinically meaningful for modified intention-to-treat participants. Alanine aminotransferase elevation was the most common adverse event during year 4 (56/131 participants); none required immunosuppressants. Conclusion: Valoctocogene roxaparvovec provides persistent FVIII expression, hemostatic control, and health-related quality of life improvements with no new safety signals.
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spelling doaj-art-001816e90c524b2c8af3b06f1a36444f2025-08-20T02:40:07ZengElsevierResearch and Practice in Thrombosis and Haemostasis2475-03792024-11-018810261510.1016/j.rpth.2024.102615Efficacy, safety, and quality of life 4 years after valoctocogene roxaparvovec gene transfer for severe hemophilia A in the phase 3 GENEr8-1 trialAndrew D. Leavitt0Johnny Mahlangu1Priyanka Raheja2Emily Symington3Doris V. Quon4Adam Giermasz5Maria Fernanda López Fernández6Gili Kenet7Gillian Lowe8Nigel S. Key9Carolyn M. Millar10Steven W. Pipe11Bella Madan12Sheng-Chieh Chou13Robert Klamroth14Jane Mason15Hervé Chambost16Flora Peyvandi17Elaine Majerus18Dominic Pepperell19Christine Rivat20Hua Yu21Tara M. Robinson22Margareth C. Ozelo23Adult Hemophilia Treatment Center, Department of Medicine, University of California San Francisco, San Francisco, California, USA; Correspondence Andrew D. Leavitt, Adult Hemophilia Treatment Center, Department of Medicine, University of California San Francisco, 513 Parnassus Avenue, Medical Sciences Building, Room S-561, San Francisco, CA 94143-0100, USA.Hemophilia Comprehensive Care Center, Charlotte Maxeke Johannesburg Academic Hospital, University of the Witwatersrand and National Health Laboratory Service, Johannesburg, South AfricaThe Royal London Hospital Haemophilia Centre, Barts Health National Health Service Trust, London, United KingdomCambridge University Hospitals National Health Service Foundation Trust, Cambridge, United KingdomOrthopaedic Hemophilia Treatment Center, Los Angeles, California, USAHemophilia Treatment Center, University of California Davis, Sacramento, California, USAComplejo Hospitalario Universitario A Coruña, A Coruña, SpainThe National Hemophilia Center and Amalia Biron Research Institute of Thrombosis and Hemostasis, Sheba Medical Center, Tel Hashomer, Tel Aviv University, Tel Aviv, IsraelWest Midlands Adult Haemophilia Comprehensive Care Centre, University Hospitals Birmingham National Health Service Foundation Trust, Birmingham, United KingdomUniversity of North Carolina Blood Research Center, University of North Carolina, Chapel Hill, North Carolina, USACentre for Haematology, Imperial College London, London, United Kingdom; Imperial College Healthcare National Health Service Trust, London, United KingdomDepartments of Pediatrics and Pathology, University of Michigan, Ann Arbor, Michigan, USAGuy’s and St Thomas’ National Health Service Foundation Trust, London, United KingdomDivision of Hematology, Department of Internal Medicine, National Taiwan University Hospital, Taipei, TaiwanVascular Medicine and Haemostaseology, Vivantes Klinikum im Friedrichshain, Berlin, Germany; Institute of Experimental Hematology and Transfusion Medicine, University Hospital Bonn, Medical Faculty, University of Bonn, Bonn, GermanyQueensland Haemophilia Centre, Cancer Care Services, Royal Brisbane and Women’s Hospital, Brisbane, Queensland, Australia; University of Queensland, Brisbane, Queensland, AustraliaAssistance Publique Hôpitaux de Marseille, Department of Pediatric Hematology Oncology, Children Hospital La Timone &amp; Aix Marseille University, Institut national de la santé et de la recherche médicale, Institut national de la recherche agronomique, Centre recherche en CardioVasculaire et Nutrition, Marseille, FranceFondazione Istituto di Ricovero e Cura a Carattere Scientifico Ca’ Granda Ospedale Maggiore Policlinico, Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Milan, Italy; Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Milan, ItalyDepartment of Medicine, Washington University in St. Louis, St. Louis, Missouri, USADepartment of Haematology, Fiona Stanley Hospital, Murdoch, Western Australia, AustraliaBioMarin Pharmaceutical Inc., Novato, California, USABioMarin Pharmaceutical Inc., Novato, California, USABioMarin Pharmaceutical Inc., Novato, California, USAHemocentro University of Campinas, Department of Internal Medicine, School of Medical Sciences, University of Campinas, Campinas, São Paulo, BrazilBackground: Valoctocogene roxaparvovec, an adeno-associated virus-mediated gene therapy for severe hemophilia A, enables endogenous factor (F)VIII expression and provides bleed protection. Objectives: Determine valoctocogene roxaparvovec durability, efficacy, and safety 4 years after treatment. Methods: In the phase 3 GENEr8-1 trial, 134 adult male persons with severe hemophilia A without inhibitors and previously using FVIII prophylaxis received a 6 × 1013 vg/kg infusion of valoctocogene roxaparvovec. Efficacy endpoints included annualized bleed rate, annualized FVIII infusion rate, FVIII activity, and the Haemophilia-Specific Quality of Life Questionnaire for Adults. Adverse events and immunosuppressant use were assessed. Change from baseline was assessed after participants discontinued prophylaxis (scheduled for week 4). Results: Median follow-up was 214.3 weeks; 2 participants discontinued since the previous data cutoff. Declines from baseline in mean treated annualized bleed rate (−82.6%; P < .0001) and annualized FVIII infusion rate (−95.5%; P < .0001) were maintained from previous years in the primary analysis population of 112 participants who enrolled from a noninterventional study. During year 4, 81 of 110 rollover participants experienced 0 treated bleeds. Week 208 mean and median chromogenic FVIII activity were 16.1 IU/dL and 6.7 IU/dL, respectively, in 130 modified intention-to-treat participants. Seven participants resumed prophylaxis since the previous data cutoff. Mean change from baseline to week 208 in Haemophilia-Specific Quality of Life Questionnaire for Adults Total Score (P < .0001) remained clinically meaningful for modified intention-to-treat participants. Alanine aminotransferase elevation was the most common adverse event during year 4 (56/131 participants); none required immunosuppressants. Conclusion: Valoctocogene roxaparvovec provides persistent FVIII expression, hemostatic control, and health-related quality of life improvements with no new safety signals.http://www.sciencedirect.com/science/article/pii/S2475037924003108adeno-associated virusclinical trialgene therapyhemophilia Aquality of life
spellingShingle Andrew D. Leavitt
Johnny Mahlangu
Priyanka Raheja
Emily Symington
Doris V. Quon
Adam Giermasz
Maria Fernanda López Fernández
Gili Kenet
Gillian Lowe
Nigel S. Key
Carolyn M. Millar
Steven W. Pipe
Bella Madan
Sheng-Chieh Chou
Robert Klamroth
Jane Mason
Hervé Chambost
Flora Peyvandi
Elaine Majerus
Dominic Pepperell
Christine Rivat
Hua Yu
Tara M. Robinson
Margareth C. Ozelo
Efficacy, safety, and quality of life 4 years after valoctocogene roxaparvovec gene transfer for severe hemophilia A in the phase 3 GENEr8-1 trial
Research and Practice in Thrombosis and Haemostasis
adeno-associated virus
clinical trial
gene therapy
hemophilia A
quality of life
title Efficacy, safety, and quality of life 4 years after valoctocogene roxaparvovec gene transfer for severe hemophilia A in the phase 3 GENEr8-1 trial
title_full Efficacy, safety, and quality of life 4 years after valoctocogene roxaparvovec gene transfer for severe hemophilia A in the phase 3 GENEr8-1 trial
title_fullStr Efficacy, safety, and quality of life 4 years after valoctocogene roxaparvovec gene transfer for severe hemophilia A in the phase 3 GENEr8-1 trial
title_full_unstemmed Efficacy, safety, and quality of life 4 years after valoctocogene roxaparvovec gene transfer for severe hemophilia A in the phase 3 GENEr8-1 trial
title_short Efficacy, safety, and quality of life 4 years after valoctocogene roxaparvovec gene transfer for severe hemophilia A in the phase 3 GENEr8-1 trial
title_sort efficacy safety and quality of life 4 years after valoctocogene roxaparvovec gene transfer for severe hemophilia a in the phase 3 gener8 1 trial
topic adeno-associated virus
clinical trial
gene therapy
hemophilia A
quality of life
url http://www.sciencedirect.com/science/article/pii/S2475037924003108
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