Congenital adrenal hyperplasia
MONDO:0018479Congenital adrenal hyperplasia (CAH) is an inherited endocrine disorder caused by a steroidogenic enzyme deficiency that is characterized by adrenal insufficiency and variable degrees of hyper or hypo androgyny manifestations, depending of the type and the severity of the disease.
Also known as: adrenal hyperplasia, adrenogenital disorder, adrenogenital syndrome, CAH, adrenal hyperplasia, congenital, congenital adrenal gland hyperplasia, congenital lipoid adrenal hyperplasia, lipoid CAH
40 clinical trials for this condition and its sub-types, 36 tagged with Congenital adrenal hyperplasia itself.
Follow this condition to get notified about new trialsWhere it sits in the disease tree
Browse by category →Part of
Sub-types of Congenital adrenal hyperplasia
-
Can a Twice-Daily hormone pill match standard care for CAH?
Disease control CancelledResearchers are testing whether Chronocort, a modified-release hydrocortisone taken twice daily, controls hormones as well as standard glucocorticoid therapy in people aged 16 and over with congenital adrenal hyperplasia. The trial assigns participants to either Chronocort or the…
Phase 3 • Sponsor: Neurocrine UK Limited • Aim: Disease control
Last updated Sep 16, 2026 00:00 UTC
-
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 2 • Sponsor: Neurocrine Switzerland GmbH • Aim: Disease control
Last updated Aug 30, 2026 00:00 UTC
-
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 3 • Sponsor: Neurocrine Biosciences • Aim: Disease control
Last updated Jun 27, 2026 12:32 UTC
-
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 1/2 • Sponsor: Adrenas Therapeutics Inc • Aim: Disease control
Last updated Jun 27, 2026 08:05 UTC
-
Can a drug tame excess cortisol? new trial tests metyrapone
Disease control OngoingThis phase 2 trial tests whether metyrapone, a drug that lowers cortisol production, is safe and effective for people with mild autonomous cortisol secretion (MACS). About 30 participants will take the drug for a period, and researchers will track side effects and cortisol levels…
Phase 2 • Sponsor: Mayo Clinic • Aim: Disease control
Last updated Jun 27, 2026 07:51 UTC
-
Newborn screening study aims to catch rare diseases at birth
Diagnosis OngoingThis study offers voluntary screening for newborns in North Carolina to detect a wide range of rare health conditions early. Using a small blood sample already collected at birth, the program tests for dozens of disorders, including spinal muscular atrophy, cystic fibrosis, and m…
Sponsor: RTI International • Aim: Diagnosis
Last updated Jul 03, 2026 00:00 UTC
-
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 …
Sponsor: IRCCS Azienda Ospedaliero-Universitaria di Bologna • Aim: Diagnosis
Last updated Jun 27, 2026 08:09 UTC
-
Online video aims to ease tough transition for teens with rare hormone disorder
Knowledge-focused CancelledThis pilot study aimed to see if a self-paced virtual education video could help adolescents and young adults (ages 16-22) with congenital adrenal hyperplasia (CAH) become more independent in managing their health. Participants would have been split into two groups: one watching …
Sponsor: National Institutes of Health Clinical Center (CC) • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:03 UTC