In late January 2022, biopharmaceutical company BridgeBio Pharma, Inc. (“BridgeBio”) shared via news release that the first patient had been dosed in the Phase 1/2 ADventure clinical trial. Within this study, researchers are evaluated BBP-631 for patients with congenital adrenal hyperplasia (CAH). Typically, CAH is treated with steroid replacement therapy. However, this can be costly and timely; treatment is lifelong and requires daily administration. Thus, if BBP-631, a single treatment, confers any benefit, it could fill an unmet need within this community.
BBP-631
Normally, our adrenal gland is responsible for producing hormones such as aldosterone and cortisol. These hormones then play a role in many bodily functions, such as blood pressure and metabolism regulation. However, patients with CAH have enzyme 21-hydroxylase; because of this, the body is unable to produce the hormones needed for these functions.
Enter BBP-631. Developed by BridgeBio, BBP-631 is an investigational adeno-associated virus 5 (AAV5) therapy which delivers a functional gene directly to patients. Through this, BBP-631 could stimulate hormone production in those with CAH. As a result, patients could begin to make the hormones needed to regulate bodily functions, and reduce the need for corticoid treatments. Learn more about BBP-631 here.
Within the Phase 1/2 ADventure trial, researchers will evaluate the pharmacodynamics, tolerability, and safety of BBP-631. Patients will receive BBP-631 intravenously. While preclinical studies have shown the efficacy and underlying treatment mechanisms of BBP-631, it will be interesting to see what the study data finds.
About Congenital Adrenal Hyperplasia (CAH)
Enzyme 21-hydroxylase deficiencies cause congenital adrenal hyperplasia (CAH) in approximately 95% of cases, though CAH may also be caused by other rare enzyme deficiencies. Altogether, CAH consists of a group of rare inherited genetic disorders which affect the adrenal glands. Because CAH is inherited in an autosomal recessive pattern, those affected must inherit one defective gene from each parent. Researchers estimate that around 75,000 people between Europe and the U.S. have CAH.
CAH can also be split into two categories. Nonclassic CAH is the more mild and common form. Symptoms may not manifest until late childhood or early adulthood, and can include:
- Severe acne
- Early pubic hair
- Irregular or absent menstruation
- Rapid childhood growth with a shorter than average final height
Alternately, classic CAH is more severe. Symptoms, which manifest in infancy, include:
- Excess male sex hormone
- Early puberty
- Abnormal genital development
- Short height
- Adrenal crisis (vomiting, severe dehydration, low blood pressure)
