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 have 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 up to 25 adult participants diagnosed with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency. All participants who receive gene therapy will be closely monitored for one year and followed for a minimum of an additional four years for safety and efficacy.