What Is Congenital Adrenal Hyperplasia (CAH)?
Congenital adrenal hyperplasia (CAH) is a rare genetic disorder affecting the adrenal glands. People with CAH have an impaired ability to produce cortisol, also known as “the stress hormone,” which has an effect on energy, blood pressure, and the body’s response to stress, illness and injury.
About 75% of CAH patients are unable to produce sufficient aldosterone, which helps the body maintain blood pressure and adequate levels of sodium.
In some cases, those affected with CAH produce high levels of androgens. While both sexes need androgens for proper growth and development, an excess can cause problems including increased risk of testicular adrenal rest tumors (TART) in men, precocious puberty, short stature, hirsutism, virilization, and impairments to fertility.
How Common Is CAH?
CAH affects approximately 35-40,000 people in the US. CAH is considered an “orphan disease,” meaning less than 200,000 are affected nationwide and there is a significant unmet need for treatment.
What Is Classical CAH vs. Non-classical CAH?
There are two types of CAH: classical and non-classical.
Classical CAH is present at birth and can be life threatening if not diagnosed properly. About 95% of patients with classical CAH have a deficiency of an enzyme called 21-hydroxylase, while 5% are deficient in 11-hydroxylase, both important in producing adequate hormone levels.
Non-classical CAH, sometimes called late-onset CAH, is less severe than classical CAH and is usually diagnosed at puberty.
What Are the CAH Symptoms?
Depending on the type of CAH one has, symptoms can vary, but might include:
- Weight gain or loss
- Early puberty
- Abnormal growth patterns
- Irregular menstrual cycles
- Infertility in women and men
- Hirsutism in women
- Low bone density (osteopenia / osteoporosis)
- Ambiguous genitalia in girls
What Types of Treatment Are Available for CAH?
CAH sufferers can maintain a stable quality of life with proper management of the disease. However, current available treatments can be difficult to balance and may produce unwanted side effects that may reduce the quality of life in patients.
The treatment of CAH has been a difficult balance between hyperandrogenism and hypercortisolism. Under-treatment carries the risk of a life-threatening adrenal crisis and allows increased adrenal androgen production to promote accelerated bone age and diminished growth. In contrast, overtreatment may suppress growth, increase blood pressure and cause iatrogenic Cushing’s syndrome.
Both over-treatment (high dose glucocorticoid replacement) and under-treatment (physiological glucocorticoid replacement) may cause a number of health challenges, including obesity, high blood pressure, osteoporosis and infertility.
Spruce is seeking to fulfill this unmet need with a new drug candidate intended to correct hormone imbalance by reducing the overdrive on the adrenal gland, thereby allowing glucocorticoid replacement at the physiological level.
Enrolling Patients Soon for
Congenital Adrenal Hyperplasia Clinical Trials 2017
If you are an adult with a genetic diagnosis of classic Congenital Adrenal Hyperplasia, you may soon be eligible to participate in a Phase 2 clinical trial for a new, once-a-day therapy for CAH. To be notified when a site opens near you, sign up for our mailing list.Learn More