The CAH Studies

Congenital Adrenal Hyperplasia (CAH) is a rare inherited disorder in which the adrenal glands do not function properly because of a variant in the gene for encoding adrenal steroid 21-hydroxylase, without this enzyme, the adrenal glands may produce too little cortisol and/or aldosterone and too much androgen. According to the National Organization for Rare Disorders (NORD), Classic CAH occurs in about one of every 15,000 births and can lead to significant illness in infants and problems with normal growth and development during childhood due to both the disease as well as treatments used for the condition.

Patients, both children and adults, are being called upon to consider participating in clinical research trials. Without patient volunteers, groundbreaking research and potential solutions can’t move forward. Trial participants are the key to a better tomorrow for both themselves and for others living with these conditions.

By engaging both pediatric and adult patients with classic CAH due to 21-hydroxylase deficiency, which is responsible for approximately 95% of CAH cases (via NORD), researchers can learn more about the disease and develop potential treatment options for patients with CAH.

Neurocrine Biosciences is conducting trials in pediatric and adult CAH patients (CAH Studies) to better understand whether a novel therapy could become a potential treatment option for individuals with CAH. These trials could potentially help support regulatory filings to seek FDA approval for broad use by patients with CAH if the therapy is demonstrated to be safe and effective.

If you or your child has congenital adrenal hyperplasia, visit to learn more.

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