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Abstract

October - December 2022 | Vol. 15 | Issue 4 | 25-26
Gene therapy: An Addition to the Novel Therapies for Hemophilia
Anupam Sisodia
Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow
Address for Correspondence Email: anupam.sisodia@gmail.com
 
Abstract
Valoctocogene roxaparvovec (AAV5-hFVIII-SQ) is an adeno-associated virus (AAV5) vector-based gene-therapy that expresses a B-domain–deleted human factor VIII coding sequence from a hepatocyte-selective promoter. After 5 years follow up showing effectiveness in phase 1 and 2 studies, it was evaluated in an open-label, single-group, phase 3 study. The efficacy and safety of valoctocogene roxaparvovec was evaluated in 134 adults with hemophilia A and results compared at 52-weeks and 2-years from a subgroup of participants. Absence of pre-existing anti-AAV5 antibodies or a history of development of factor VIII inhibitors was a prerequisite for enrolment in the study. No participants were receiving emicizumab. Among the 132 human immunodeficiency virus–negative participants, the mean factor VIII activity level at weeks 49 through 52 had increased by 41.9 IU per decilitre. Among the 112 participants enrolled from a prospective noninterventional study, the mean annualized rates of factor VIII concentrate use and bleeding episodes after week 4 had decreased after infusion by 98.6% and 83.8%, respectively. All the participants had at least one adverse event; 22 of 134 (16.4%) reported serious adverse events. Elevations in alanine aminotransferase levels occurred in 115 of 134 participants (85.8%) and were managed with immunosuppressants. No development of factor VIII inhibitors or thrombosis occurred in any of the participants.
 
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