Classic CAH is a chronic and potentially life-threatening rare genetic disorder characterized by an inability to produce cortisol, and, in many CAH patients, an inability to produce aldosterone. Due to the severity of the disease, most developed countries have established newborn screening programs to test for classic CAH at birth. There are approximately 20,000 – 30,000 classic CAH patients in the U.S. and 50,000 in the EU. There have been no meaningful improvements in CAH treatments in approximately 70 years.

Cortisol is a vital hormone, often called the stress hormone, and acts to prevent the release of substances in the body that cause inflammation, and also to stabilize blood sugar levels. Without cortisol, patients confront the potential for life-threatening adrenal crisis. Aldosterone is also a critical hormone, essential for sodium and potassium level regulation, and hence for control of blood pressure. The inability in CAH to produce cortisol has a key secondary effect, which is significant overproduction of adrenal androgens.

All patients require lifelong treatments with glucocorticoids to replace the missing cortisol and avoid adrenal crisis. But replacement of cortisol alone does not manage the disease: It is estimated that approximately 70% of adult classic CAH patients are living with disease that is considered poorly controlled, primarily because they have adrenal hormones outside of the normal range.1 With limited options currently available, many patients may be prescribed excessive doses of glucocorticoids to reduce high levels of adrenal androgens.

1 Sources: Back Bay Physician Interviews; Horm Res Paediatr 2011;76:73–85, Nat Rev Endocrinol. 2014 Feb;10(2):115-24.

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