Congenital Adrenal Hyperplasia (CAH)
Congenital adrenal hyperplasia (CAH) is a rare genetic disorder affecting the ability of the adrenal glands to function properly. CAH results from a mutation in the gene that encodes the enzyme 21-hydroxylase, which is necessary for the synthesis of key adrenal hormones. As a result, people with CAH have an impaired ability to produce the hormone cortisol, which can result in life-threatening adrenal crises. Cortisol is also known as “the stress hormone,” and is critical for the body’s response to stress, illness and injury. About 75% of people affect with CAH are unable to produce sufficient aldosterone, another adrenal hormone, which is essential for the body to maintain blood pressure and adequate levels of sodium.
In CAH, the adrenal glands often produce excessive levels of androgens. While both sexes need androgens for proper growth and development, an excess can cause problems that include precocious puberty, short stature, hirsutism, virilization, and increased risk of testicular adrenal rest tumors (TART) in men.
Glucocorticoids (such as hydrocortisone, prednisone and dexamethasone) are commonly used to treat CAH, but are associated with a wide-range of side effects, including weight gain, reduced bone mineral density and metabolic abnormalities.
Tildacerfont (formerly known as SPR001)
Tildacerfont (SPR001) is an oral, potent and selective, non-steroidal investigational small molecule currently being tested for the treatment of CAH and other endocrine disorders. Tildacerfont works by blocking CRF type-1 receptors on the pituitary gland to decrease ACTH release and thus, reduce excessive adrenal androgen production.
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Congenital Adrenal Hyperplasia Clinical Trials 2019
Spruce also has ongoing collaborations with the National Institutes of Health (NIH) for longer duration study of the safety and efficacy of tildacerfont in adults 18+.
If you are age 12+ and diagnosed with Congenital Adrenal Hyperplasia, we invite you to join our Natural History Study and Registry.
The CAH Natural History Study's mission is to learn more about CAH so researchers can work to improve the quality of life and the health of individuals with CAH, and to provide hope through the promise of new treatments.Learn More