Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
MONDO:0008728The most common form of congenital adrenal hyperplasia (CAH), characterized by simple virilizing or salt wasting forms that can manifest with genital ambiguity in females and with adrenal insufficiency (in both sexes), and that presents with dehydration, hypoglycemia in the neonatal period (that can be lethal if untreated), and hyperandrogenia.
Also known as: 21-OHD, classic 21-OHD CAH, classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, 21 hydroxylase deficiency, 21-hydroxylase deficiency, CYP21 deficiency, adrenal hyperplasia 3, adrenal hyperplasia, congenital, due to 21-HYDROXYLASE deficiency
20 clinical trials for this condition and its sub-types.
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New cortisol timing therapy may improve life for adults with rare hormone disorder
Disease control Not yet recruitingThis study follows 100 adults with congenital adrenal hyperplasia (CAH) who switch from standard steroids to a timed-release hydrocortisone (Efmody). The goal is to see if better mimicking the body's natural cortisol rhythm improves hormone levels, metabolic health, and quality o…
Sponsor: IRCCS San Raffaele • Aim: Disease control
Last updated Jun 27, 2026 13:05 UTC
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New hope for toddlers with rare hormone disorder?
Disease control Not yet recruitingThis study tests a drug called crinecerfont in 20 children aged 3 months to 4 years with classic congenital adrenal hyperplasia (CAH). The goal is to see if the drug is safe and tolerable. Participants must already be on stable hydrocortisone treatment. The study is not yet recru…
Phase: PHASE2 • Sponsor: Neurocrine Biosciences • Aim: Disease control
Last updated Jun 27, 2026 12:09 UTC
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Could a simple saliva test replace blood draws for hormone monitoring?
Knowledge-focused Not yet recruitingThis study explores whether at-home saliva samples can reliably measure key steroid hormones in people with congenital adrenal hyperplasia (CAH), a condition requiring lifelong hormone therapy. Currently, monitoring involves morning blood tests that miss daily hormone fluctuation…
Sponsor: Assistance Publique - Hôpitaux de Paris • Aim: Knowledge-focused
Last updated Jul 23, 2026 00:00 UTC
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Tiny trial to see if a dye helps adrenal surgery
Knowledge-focused Not yet recruitingThis study will look at 12 people having surgery to remove an adrenal gland (adrenalectomy) using robotic or laparoscopic methods. Some surgeries will use a green dye called Indocyanine Green (ICG) to help the surgeon see better, while others will not. The main goal is to track c…
Sponsor: University of Roma La Sapienza • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:32 UTC