First new treatment for CAH in 70 years receives FDA approval

The U.S. Food and Drug Administration (FDA) has approved the first new treatment for classic congenital adrenal hyperplasia (CAH) in more than seven decades, offering a breakthrough for adults and children aged 4 years and older living with this rare genetic condition.

Classic CAH disrupts the adrenal glands’ ability to produce essential hormones like cortisol while causing an overproduction of androgens. Current treatments often rely on high doses of glucocorticoids, which can have significant side effects. This newly approved therapy reduces excess androgen production, enabling patients to lower their glucocorticoid doses while maintaining hormonal balance.

FDA celebrates a milestone for rare disease patients

Dr. Theresa Kehoe, director of the Division of General Endocrinology at the FDA, highlighted the significance of this long-awaited development:

This approval provides an important advance for patients with classic congenital adrenal hyperplasia and highlights the FDA’s continued commitment to advancing effective and safe treatments for rare diseases. We will continue working with patients, drug companies, and health care providers to address the unmet medical needs of the rare disease community.

Ground-breaking results from clinical trials

The approval is based on two large clinical trials involving 285 participants.

Adult study results

Among 182 adults, those receiving the new treatment reduced their daily glucocorticoid dose by 27% while maintaining control of androgen levels, compared to a 10% reduction in the placebo group over 24 weeks.

Paediatric study results

In 103 children, participants achieved significant reductions in androgen levels after just four weeks. By the end of the 28-week trial, children reduced their glucocorticoid doses by 18%, while those on placebo experienced an increase of nearly 6%.

Safety and considerations

The treatment includes warnings for adrenal insufficiency, a potentially life-threatening condition if glucocorticoid replacement therapy is inadequate during periods of stress. Common side effects in adults include fatigue, dizziness, and joint pain, while paediatric patients reported headaches, abdominal pain, and fatigue.

A long-awaited breakthrough

This approval represents the first major advancement in CAH treatment since the 1950s, a milestone for patients, caregivers, and healthcare providers. It also underscores the FDA’s commitment to accelerating treatments for rare diseases, granting the new therapy several designations, including Fast Track, Breakthrough Therapy, Orphan Drug, and Priority Review.