Science to Diseases
We have developed FDA-approved therapies for tardive dyskinesia and Parkinson’s disease and are working on developing potential treatments across multiple disease states.
from complex disease
states, our team
invested in bringing medicines
to market for people with under-
addressed and rare diseases.
Congenital Adrenal Hyperplasia (CAH)
CAH is a group of rare autosomal recessive disorders that result in an enzyme deficiency (~95% due to 21-hydroxylase [21-OHD] deficiency) that alters the production of adrenal hormones.
If left untreated, classic CAH, the more severe form of the disorder, can result in salt wasting, dehydration, and even death. Both males and females with classic CAH can experience problems with growth and development in childhood, including early puberty, short stature, or height below genetic potential, and fertility problems in adulthood. Classic CAH due to 21-OHD deficiency is estimated to affect up to approximately 30,000 people in the U.S. and 50,000 people in Europe.
There are no non-steroidal treatments approved by the U.S. Food and Drug Administration for classic CAH. Glucocorticoids are the current standard of care for people living with the disorder and are used to correct the body’s cortisol deficiency and attempt to reduce the high adrenocorticotropic hormone (ACTH) levels in an attempt to control androgen excess.
However, the dose and duration of glucocorticoids required to suppress ACTH in order to control androgen levels in people living with classic CAH are often well above what are needed for replacement dosing to treat the cortisol deficiency, which can result in serious and common complications of steroid excess, including metabolic abnormalities, bone loss, growth impairment, increased risk of infections, and increased risk of cardiovascular disease.
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