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 hope for babies with rare hormone disorder?
Disease control OngoingThis study looks at how the drug crinecerfont works in babies under 2 years old with congenital adrenal hyperplasia (CAH), a condition where the body can't make certain hormones properly. The goal is to measure drug levels in the blood and check for side effects. Only 7 infants a…
Phase: PHASE2 • Sponsor: Neurocrine Biosciences • Aim: Disease control
Last updated Jun 27, 2026 14:00 UTC
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New hope for CAH: drug may slash steroid use
Disease control OngoingThis study tests a drug called crinecerfont in adults with classic congenital adrenal hyperplasia (CAH), a genetic condition that requires lifelong steroid treatment. The goal is to see if crinecerfont can safely reduce the daily steroid dose needed while keeping hormone levels u…
Phase: PHASE3 • Sponsor: Neurocrine Biosciences • Aim: Disease control
Last updated Jun 27, 2026 12:32 UTC
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Gene therapy aims to free patients from daily steroids for rare adrenal disorder
Disease control OngoingThis early-phase trial tests a gene therapy called BBP-631 for classic congenital adrenal hyperplasia (CAH), a genetic condition that forces patients to take daily steroids. The therapy uses a harmless virus to deliver a working copy of the faulty gene. Only 8 adults are enrolled…
Phase: PHASE1, PHASE2 • Sponsor: Adrenas Therapeutics Inc • Aim: Disease control
Last updated Jun 27, 2026 08:05 UTC
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New DNA reader cracks tough genetic mysteries
Diagnosis OngoingThis study tests a new DNA-reading technology called ultra-long read sequencing to find hidden genetic changes that standard tests miss. Researchers will analyze blood samples from 15 patients with known or suspected genetic variants in difficult-to-read DNA regions. The goal is …
Phase: NA • Sponsor: IRCCS Azienda Ospedaliero-Universitaria di Bologna • Aim: Diagnosis
Last updated Jun 27, 2026 08:09 UTC