Gene Therapy for Congenital Adrenal Hyperplasia through Administration of an Adeno-Associated Virus (AAV) Serotype 5-Based Recombinant Vector Encoding the Human CYP21A2

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Abstract

As a monogenic disease, congenital adrenal hyperplasia due to 21-hydroxylase deficiency is amenable to genetic interventions. Promising pre-clinical programs led to a first-in-human clinical trial. This is a Phase 1/2, open-label, dose-escalation study designed to evaluate the safety, tolerability, and efficacy of an AAV5 based gene therapy administered to adult participants diagnosed with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency and is currently closed to enrollment due to disappointing efficacy. All participants who received gene therapy will be closely monitored for one year and followed for a minimum of an additional four years for safety and efficacy.