A Study of Gene Therapy for Classic Congenital Adrenal Hyperplasia (CAH)
A Phase 1/2, First-in-Human, Open-Label, Dose-Escalation Study of the Safety and Efficacy 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
1 other identifier
interventional
8
1 country
5
Brief Summary
This study is designed to evaluate the safety, tolerability, and efficacy of AAV5 based BBP-631 in adult participants diagnosed with classic congenital adrenal hyperplasia.
Trial Health
Trial Health Score
Automated assessment based on enrollment pace, timeline, and geographic reach
participants targeted
Target at below P25 for phase_1
Started Jul 2021
Longer than P75 for phase_1
5 active sites
Health score is calculated from publicly available data and should be used for screening purposes only.
Trial Relationships
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Study Timeline
Key milestones and dates
First Submitted
Initial submission to the registry
March 1, 2021
CompletedFirst Posted
Study publicly available on registry
March 5, 2021
CompletedStudy Start
First participant enrolled
July 1, 2021
CompletedPrimary Completion
Last participant's last visit for primary outcome
February 1, 2029
ExpectedStudy Completion
Last participant's last visit for all outcomes
February 1, 2029
December 23, 2025
December 1, 2025
7.6 years
March 1, 2021
December 19, 2025
Conditions
Keywords
Outcome Measures
Primary Outcomes (2)
Number of participants with Treatment-emergent Adverse Events that Led to Study Discontinuation
up to 5 years
To select the optimum dose or dose range of BBP 631 for future studies
up to 5 years
Secondary Outcomes (3)
Change from Baseline in 17-OHP (hydroxyprogesterone) levels
Baseline, Week 52 and through study completion, an average of 5 years
Change from Baseline in androstenedione (A4) levels
Baseline, Week 52 and through study completion, an average of 5 years
Change from Baseline in endogenous cortisol levels
Baseline, Week 52 and through study completion, an average of 5 years
Study Arms (4)
Dose Level 1
EXPERIMENTALBBP-631 lowest dose, administered once, intravenously (IV)
Dose Level 2
EXPERIMENTALBBP-631 middle dose, administered once, IV
Dose Level 3
EXPERIMENTALBBP-631, high dose, administered once, IV
Dose Level 4
EXPERIMENTALBBP-631, highest dose, administered once, IV
Interventions
Eligibility Criteria
You may qualify if:
- 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
You may not qualify if:
- Positive for anti-AAV5 (Adeno-Associated Virus Type 5) antibodies
- History of adrenalectomy and/or significant liver disease
Contact the study team to confirm eligibility.
Sponsors & Collaborators
Study Sites (5)
Ann and Robert H. Lurie Children's Hospital of Chicago
Chicago, Illinois, 60611, United States
National Institutes of Health Clinical Center
Bethesda, Maryland, 20892-1932, United States
University of Minnesota
Minneapolis, Minnesota, 55455, United States
Lucas Research, Inc.
Morehead City, North Carolina, 28557, United States
Children's Hospital of Philadelphia
Philadelphia, Pennsylvania, 19104, United States
Related Links
MeSH Terms
Conditions
Condition Hierarchy (Ancestors)
Study Design
- Study Type
- interventional
- Phase
- phase 1
- Allocation
- NON RANDOMIZED
- Masking
- NONE
- Purpose
- TREATMENT
- Intervention Model
- SEQUENTIAL
- Sponsor Type
- INDUSTRY
- Responsible Party
- SPONSOR
Study Record Dates
First Submitted
March 1, 2021
First Posted
March 5, 2021
Study Start
July 1, 2021
Primary Completion (Estimated)
February 1, 2029
Study Completion (Estimated)
February 1, 2029
Last Updated
December 23, 2025
Record last verified: 2025-12
Data Sharing
- IPD Sharing
- Will not share