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
58 clinical trials for this condition and its sub-types.
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New hope for kids: drug may prevent transplant complications
Disease control Not yet recruitingThis study tests whether adding the drug vorinostat to standard care can prevent graft-versus-host disease (GVHD) in children and young adults (ages 1-26) with non-cancerous blood disorders who are getting a bone marrow transplant. GVHD is a serious complication where donor cells…
Phase: PHASE2 • Sponsor: Sung Won Choi • Aim: Disease control
Last updated Jul 02, 2026 00:00 UTC
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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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Can a supplement tame your cholesterol? new study seeks answers
Disease control Not yet recruitingThis study tests a dietary supplement called Cardiol Forte in 50 adults with mildly high cholesterol but low overall heart risk. Participants will take either the supplement or a placebo for 8 weeks, then everyone gets the supplement for another 8 weeks. The goal is to see if it …
Phase: NA • Sponsor: U.G.A. Nutraceuticals • Aim: Disease control
Last updated Jun 27, 2026 12:09 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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AI could help spot rare metabolic diseases in newborns
Diagnosis Not yet recruitingThis trial will test an artificial intelligence system designed to interpret routine newborn screening tests for inherited metabolic disorders. Researchers will compare the AI's accuracy to standard manual review by trained staff. The study plans to include 200,000 newborns in Ch…
Phase: NA • Sponsor: The Children's Hospital of Zhejiang University School of Medicine • Aim: Diagnosis
Last updated Jun 27, 2026 09:00 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
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Massive diabetes registry aims to unlock secrets of metabolic disease
Knowledge-focused Not yet recruitingThis 10-year observational study will follow 10,000 adults with diabetes, metabolic disorders, and related conditions like high blood pressure and fatty liver disease. Researchers will collect routine medical data to identify markers of disease severity and activity. The goal is …
Sponsor: IRCCS San Raffaele • Aim: Knowledge-focused
Last updated Jun 27, 2026 07:53 UTC