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.
Follow this condition — get notified about new trialsSub-types
Broader categories
-
New pill may help adults with rare adrenal disorder cut back on steroids
Disease control Recruiting nowThis study tests a new drug, atumelnant, in 150 adults with classic congenital adrenal hyperplasia (CAH). The goal is to see if it can safely control hormone levels and allow patients to take lower doses of their usual steroid medications. Participants will receive either atumeln…
Phase: PHASE3 • Sponsor: Crinetics Pharmaceuticals Inc. • Aim: Disease control
Last updated Aug 14, 2026 00:00 UTC
-
New pill could help kids with rare hormone disorder cut back on steroids
Disease control Recruiting nowThis study tests a daily oral medication called atumelnant in children aged 1 to 18 with classic congenital adrenal hyperplasia, a genetic condition that disrupts hormone production. The goal is to see if the drug can safely normalize hormone levels and allow patients to lower th…
Phase: PHASE2, PHASE3 • Sponsor: Crinetics Pharmaceuticals Inc. • Aim: Disease control
Last updated Aug 14, 2026 00:00 UTC
-
New infusion drug hopes to tame rare hormone disorder
Disease control Recruiting nowThis early-stage trial is testing a new drug called Lu AG13909 in 42 adults with congenital adrenal hyperplasia (CAH), a rare genetic condition that disrupts hormone production. The study aims to check the drug's safety, how it moves through the body, and its effects on hormone l…
Phase: PHASE1, PHASE2 • Sponsor: H. Lundbeck A/S • Aim: Disease control
Last updated Jun 27, 2026 11:00 UTC
-
New Once-Daily pill could simplify CAH treatment
Disease control Recruiting nowThis study tests whether a once-daily dual-release hydrocortisone pill (Plenadren) works better than standard multiple-dose glucocorticoids for adults with congenital adrenal hyperplasia. The trial will enroll 150 adults and measure changes in cholesterol, blood sugar, weight, bl…
Phase: PHASE4 • Sponsor: Federico II University • Aim: Disease control
Last updated Jun 26, 2026 17:55 UTC
-
Researchers launch major study to unravel mysteries of excess male hormones
Knowledge-focused Recruiting nowThis natural history study aims to gather information from up to 3,000 people with genetic conditions that cause too much androgen (male-like hormones), such as congenital adrenal hyperplasia (CAH) and familial male-limited precocious puberty (FMPP). Participants undergo various …
Sponsor: Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) • Aim: Knowledge-focused
Last updated Aug 06, 2026 00:00 UTC
-
New study sheds light on pregnancy challenges in rare adrenal disorder
Knowledge-focused Recruiting nowThis study looks at how women with a severe form of congenital adrenal hyperplasia (classic 21-hydroxylase deficiency) become pregnant and what happens during their pregnancies. Researchers will collect information from medical records and phone interviews with 200 adult women. T…
Sponsor: Assistance Publique - Hôpitaux de Paris • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:01 UTC
-
New imaging tracer could shed light on adrenal cholesterol
Knowledge-focused Recruiting nowThis study tests a special radioactive tracer called [18F]FNP-59 to see if it can safely and clearly show cholesterol activity in the adrenal gland using PET scans. About 24 people will take part, including healthy volunteers and those with known adrenal problems. The goal is to …
Phase: EARLY_PHASE1 • Sponsor: Benjamin Viglianti • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:02 UTC