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Active, Not Recruiting

NCT Number: NCT04783181

A Study of Gene Therapy for Classic Congenital Adrenal Hyperplasia (CAH)

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.

Active, Not Recruiting

This study is active but is not currently recruiting participants.

Key information

Conditions

Congenital Adrenal Hyperplasia Adrenal Gland Diseases Adrenal Hyperplasia, Congenital Adrenogenital Syndrome Congenital Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disorders of Sex Development Endocrine System Diseases Female Urogenital Diseases Female Urogenital Diseases and Pregnancy Complications Genetic Diseases, Inborn Gonadal Disorders Male Urogenital Diseases Metabolic Diseases Metabolism, Inborn Errors Nutritional and Metabolic Diseases Steroid Metabolism, Inborn Errors Urogenital Abnormalities Urogenital Diseases

Age range

18 year and older

Sex eligibility

All sexes

Study type

Interventional

Phase

Phase 1 / Phase 2

Primary location

Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, United States

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About this study

Participants will receive a single dose of AAV5 based intravenous (IV) BBP-631 and will be followed for safety and efficacy for at least 5 years after the date of treatment with BBP-631.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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/or significant liver disease

Treatment and study plan

AAV BBP-631

Biological

intravenous

Primary outcomes

  1. Number of participants with Treatment-emergent Adverse Events that Led to Study Discontinuation

    Time frame: up to 5 years

  2. To select the optimum dose or dose range of BBP 631 for future studies

    Time frame: up to 5 years

Secondary outcomes

  1. Change from Baseline in 17-OHP (hydroxyprogesterone) levels

    Time frame: Baseline, Week 52 and through study completion, an average of 5 years

  2. Change from Baseline in androstenedione (A4) levels

    Time frame: Baseline, Week 52 and through study completion, an average of 5 years

  3. Change from Baseline in endogenous cortisol levels

    Time frame: Baseline, Week 52 and through study completion, an average of 5 years

Sponsors and collaborators

Lead sponsor

Adrenas Therapeutics Inc

Industry

Registry information

Official study title

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

Important dates

Study start
2021
Primary completion
2029
Study completion
2029
First posted
Mar 5, 2021
Registry last updated
Dec 23, 2025

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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