A Phase 1/2, First-in-Human, Open-Label, Dose-Escalation Study of the Safety and Pharmacodynamic Activity of Gene Therapy for Congenital Adrenal Hyperplasia through Administration of an Adeno-associated Virus (AAV) Serotype 5-Based Recombinant Vector Encoding the Human CYP21A2 Gene


This is a Phase 1/2, first-in-human, open-label, dose-escalation study designed to evaluate the safety, tolerability, and efficacy of BBP-631 administered to up to 25 adult participants diagnosed with classic congenital adrenal hyperplasia (CAH) (simple virilizing or salt-wasting, Group 1) or with classic salt-wasting CAH (Group 2) due to 21-hydroxylase deficiency (21-OHD) and who are monitored for 24 weeks posttreatment.

I'm interested

18 Years and over
This study is NOT accepting healthy volunteers
Key Inclusion Criteria
• Adult male and non-pregnant females with classic CAH (simple virilizing or salt-wasting) due to 21-OHD
• Screening/baseline 17-OHP levels > 5-10 × ULN and < 40 × ULN (upper limit of normal)
• Stable oral hydrocortisone (HC) regimen as the only glucocorticoid (GC) maintenance therapy
• Naïve to prior gene therapy or AAV-mediated therapy Key Exclusion Criteria
• Positive for anti-AAV5 (Adeno-Associated Virus Type 5) antibodies
• History of adrenalectomy and has no significant liver disease

Biological: AAV BBP-631

Congenital Adrenal Hyperplasia

CAH, Gene therapy, AAV, AAV5

Kyriakie Sarafoglou -
Kyriakie Sarafoglou
Phase 1/Phase 2
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