In 2018, China declared congenital adrenal hyperplasia (CAH) to be a rare disease, and it is estimated to affect 1 in every 6084 Chinese births. However, there are currently no approved treatments for this condition in China – until now. According to a recent press release, specialty pharmaceutical company Diurnal Group plc. (“Diurnal”) and rare disease therapeutics company Citrine Medicine (“Citrine”) have formed a licensing agreement so that Citrine can develop Alkindi for use in China.
Alkindi is an orally administered treatment designed for patients with pediatric adrenal insufficiency (AI) and congenital adrenal hyperplasia (CAH). This immediate-release pill delivers hydrocortisone to patients, helping them to overcome cortisol deficiencies and reduce negative symptoms. Alkindi is currently approved for use in the United States, Europe, Australia, and Israel.
Congenital Adrenal Hyperplasia (CAH)
In nearly 95% of all diagnoses, congenital adrenal hyperplasia (CAH) is caused by 21-hydroxylase deficiencies. Typically, this results from CYP21A gene mutations. However, other variants and enzyme deficiencies can also cause CAH, a group of inherited genetic disorders. These conditions are inherited in an autosomal recessive pattern.
CAH impacts the adrenal glands, organs which regulate blood pressure, immune function, and metabolism (among other bodily functions). As a result, the production of steroid hormones is interrupted or altered. Normally, the adrenal glands produce corticosteroids, androgens (known widely as male sex hormones), and mineralocorticoids. While enzyme deficiencies may cause one of these to be poorly produced, another enzyme produces in excess to make up the difference.
CAH usually falls into either the classic or nonclassic category. The former is typically more severe and often diagnosed in infancy. Symptoms of classic CAH include:
- Early puberty
- Abnormal genital development
- Short stature
- Excess amounts of male sex hormones
- Chronic fatigue
- Cortisol deficiencies
- Life-threatening blood pressure and blood sugar problems
On the other hand, nonclassic CAH is mild enough that symptoms may not be noticed until childhood or adulthood. For these individuals, symptoms may include:
- Severe acne
- Irregular or absent menstrual cycles
- Rapid growth during childhood despite still being shorter than average when fully grown
- The early appearance of pubic hair