In the United Kingdom, the Medicines and Healthcare products Regulatory Agency (MHRA) regulates medication, transfusion components, and medical devices, making sure they meet safety and efficacy standards. According to Pharma Times, the MHRA recently approved a marketing authorization request for Efmody, a treatment for patients (ages 12+) with congenital adrenal hyperplasia (CAH).
Congenital Adrenal Hyperplasia (CAH)
Congenital adrenal hyperplasia (CAH) refers to a group of rare genetic disorders which impact the adrenal glands. Normally, the adrenal glands produce hormones which help to manage blood pressure and regulate metabolism, immune function, and even stress responses. However, patients with CAH often lack 21-hydroxylase, an enzyme which helps the adrenal glands function. As a result, patients with CAH are unable to produce enough steroid hormones.
Overall, there are two forms of CAH: classic and nonclassic. In patients with nonclassic CAH, symptoms are often milder and may not manifest until late childhood or early adulthood. Unlike patients with the classic form, females display normal genitalia at birth. Symptoms include:
- Severe acne
- Menstrual irregularities, or absent menstruation (in females)
- Excessive body or facial hair (in females)
- Deepening voice (in females)
- Early pubic hair growth (in males)
- Rapid childhood growth culminating in a shorter than average height (in males)
Alternately, classic CAH is considered the rarer and more severe form of the condition. Typically, symptoms manifest in infancy. These include:
- Adrenal crisis (which can be life-threatening)
- Typically, this is caused by a lack of cortisol and/or aldosterone.
- Symptoms include nausea and vomiting; diarrhea; and extreme weakness, among others.
- Ambiguous genitalia (in females)
- Short stature
- Early puberty
- Difficulty managing blood sugar or blood pressure
- Early appearance of pubic hair
Developed by specialty pharmaceutical company Diurnal, Efmody is described as a “hybrid medicine” which:
contains hydrocortisone, a synthetic form of cortisol, and slowly releases it in the intestines to replace the natural hormone in the body, in a pattern similar to natural daily secretion of cortisol. This helps to restore a more normal hormone balance and minimize other aspects of [CAH].
When Diurnal submitted the marketing authorization, the company included data from a Phase 3 clinical study. Altogether, 122 patients enrolled. Compared to the current standard-of-care, there were no significant differences. However, Efmody did show effectiveness in controlling 17-OHP levels over a sustained period of time.