Gene Therapy for Congenital Adrenal Hyperplasia

Not currently recruiting at 8 trial locations
MP
KM
DR
PA
Overseen ByPatient Advocacy
Age: 18+
Sex: Any
Trial Phase: Phase 1 & 2
Sponsor: Adrenas Therapeutics Inc
Must be taking: Glucocorticoids
No Placebo GroupAll trial participants will receive the active study treatment (no placebo)

What You Need to Know Before You Apply

What is the purpose of this trial?

This trial tests a new gene therapy treatment called AAV BBP-631 for individuals with classic congenital adrenal hyperplasia (CAH), a condition that prevents the body from producing certain essential hormones. The study aims to determine the treatment's safety, tolerance, and effectiveness in managing CAH symptoms. Participants will receive one of four different doses of the treatment through an IV. Suitable candidates have classic CAH, use oral hydrocortisone as their only maintenance therapy, and have not undergone previous gene therapy. As a Phase 1 trial, this research focuses on understanding how the treatment works in people, offering participants the opportunity to be among the first to receive this new therapy.

Will I have to stop taking my current medications?

The trial requires participants to be on a stable oral hydrocortisone regimen as their only glucocorticoid maintenance therapy. If you are taking other medications, you may need to adjust your treatment to meet this requirement.

Is there any evidence suggesting that this trial's treatments are likely to be safe?

Research has shown that the gene therapy BBP-631 was well tolerated in studies. Participants experienced only mild to moderate side effects, indicating no serious health issues arose from the treatment. No severe side effects were directly linked to it. This evidence suggests that BBP-631 is relatively safe. However, the development of this treatment has been stopped, which might affect its availability or further testing.12345

Why do researchers think this study treatment might be promising for congenital adrenal hyperplasia?

Unlike the standard of care for congenital adrenal hyperplasia, which often involves lifelong hormone replacement therapy, BBP-631 offers a gene therapy approach using an AAV vector. This treatment is unique because it targets the root cause of the condition by delivering a functional gene to correct the enzyme deficiency. Researchers are excited about BBP-631 because it has the potential to provide a one-time treatment that could significantly reduce or eliminate the need for ongoing medication, offering a more sustainable and long-term solution.

What evidence suggests that AAV BBP-631 might be an effective treatment for congenital adrenal hyperplasia?

Research has shown that the gene therapy BBP-631 offers promising results for treating classic congenital adrenal hyperplasia (CAH). In this trial, participants will receive varying doses of BBP-631, from the lowest to the highest. Studies found that patients who received higher doses experienced an increase in their body's natural cortisol production. Cortisol, a hormone, aids in stress management and metabolism. This increase marked a first-of-its-kind result for these patients. Despite these positive changes, the company chose not to continue developing the therapy because the overall results were not strong enough.12346

Are You a Good Fit for This Trial?

Adults with classic congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency, who haven't had gene therapy before and are on a stable dose of hydrocortisone. Pregnant women, those with previous adrenalectomy or significant liver disease, or immunity against AAV5 cannot participate.

Inclusion Criteria

I have never received gene therapy or AAV-mediated therapy.
I am on a stable dose of oral hydrocortisone as my only steroid treatment.
Your 17-OHP levels are too high or too low during the screening test.
See 1 more

Exclusion Criteria

I have had surgery to remove my adrenal gland or have significant liver disease.
You have antibodies against the AAV5 virus.

Timeline for a Trial Participant

Screening

Participants are screened for eligibility to participate in the trial

2-4 weeks

Treatment

Participants receive a single dose of AAV5 based intravenous (IV) BBP-631

1 day

Follow-up

Participants are monitored for safety and efficacy for at least 5 years after treatment

5 years

What Are the Treatments Tested in This Trial?

Interventions

  • AAV BBP-631
Trial Overview The trial is testing the safety and effectiveness of a gene therapy called AAV BBP-631 in adults with CAH. It aims to see if this treatment can manage the condition better than current therapies.
How Is the Trial Designed?
4Treatment groups
Experimental Treatment
Group I: Dose Level 4Experimental Treatment1 Intervention
Group II: Dose Level 3Experimental Treatment1 Intervention
Group III: Dose Level 2Experimental Treatment1 Intervention
Group IV: Dose Level 1Experimental Treatment1 Intervention

Find a Clinic Near You

Who Is Running the Clinical Trial?

Adrenas Therapeutics Inc

Lead Sponsor

Trials
2
Recruited
70+

Published Research Related to This Trial

In a 6-month study involving 122 adult patients with congenital adrenal hyperplasia (CAH), modified-release hydrocortisone (MR-HC) showed improved biochemical control of androgen levels compared to standard glucocorticoid therapy, with a significant increase in the percentage of patients achieving controlled serum 17-hydroxyprogesterone levels.
MR-HC not only reduced the need for higher steroid doses over time but also led to positive patient-reported outcomes, including restoration of menstrual cycles and successful pregnancies, highlighting its potential benefits beyond just biochemical control.
Modified-Release Hydrocortisone in Congenital Adrenal Hyperplasia.Merke, DP., Mallappa, A., Arlt, W., et al.[2021]

Citations

A Study of Gene Therapy for Classic Congenital Adrenal ...This study is designed to evaluate the safety, tolerability, and efficacy of AAV5 based BBP-631 in adult participants diagnosed with classic congenital adrenal ...
NIH Clinical Center: Search the StudiesThis study is testing a gene therapy called BBP-631 in people with classic CAH. It will also track their health for five years after they receive the treatment.
BridgeBio Pharma Reports Topline Results from Phase 1/2 ...Increase in endogenous cortisol production achieved in all patients in higher dose cohorts of BBP-631, a result seen for the first time ever ...
BridgeBio Pharma Drops Development of Congenital ...Although BBP-631 effected several noteworthy changes in the treated patients, BridgeBio does not consider the results substantial enough for ...
BridgeBio Bows Out With CAH Gene Therapy Despite Trial ...BridgeBio reported that all patients receiving higher doses of BBP-631 showed increased endogenous cortisol production, with a maximum change ...
Design of a Phase 1/2 Open-Label, Dose-Escalation Study of ...BBP-631 appears to be safe and well-tolerated in mice with 21-OHD, healthy mice and non-human primates. Taken together, these data support ...
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