RecruitingNCT07490964
Endocrine
Congenital Adrenal Hyperplasia
Also known as CAH, 21-hydroxylase deficiency, salt-wasting CAH, CYP21A2 mutation
Congenital Adrenal Hyperplasia encompasses a group of autosomal recessive disorders of cortisol biosynthesis, with 21-hydroxylase deficiency (CYP21A2 mutations) accounting for over 95% of cases, leading to cortisol and often aldosterone def
ORPHA:418 ↗Gene CYP21A2Prevalence Classic form: 1 per 10,000–15,000; non-classic: 1 per 100–1,000Onset Congenital; classic forms detected at birth or in infancyAutosomal recessive
29
studies recruiting now
as of 7 Sept 2026
196
studies registered in total
as of 7 Sept 2026
17
countries with a recruiting site
as of 7 Sept 2026
24 Mar 2026
most recent study posted
among recruiting studies
Recruiting trials
RecruitingPhase 3NCT07144163
A Study to Evaluate Atumelnant in Adults With Congenital Adrenal Hyperplasia
RecruitingPhase 2 / Phase 3NCT07159841
A Study in Pediatric Participants With Congenital Adrenal Hyperplasia (Balance-CAH)
RecruitingNCT06900153
Parenting and CAH - 21-hydroxylase Deficiency
RecruitingNCT00250159
Natural History Study of Patients With Excess Androgen
Showing the 5 most recently updated recruiting studies, as recorded 7 Sept 2026. Live status on each study page.
See all 29 recruiting studiesWhere recruiting studies are running
Countries with at least one recruiting site among the studies above, 7 Sept 2026. Tap a country to search trials there.
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About Congenital Adrenal Hyperplasia
Congenital Adrenal Hyperplasia encompasses a group of autosomal recessive disorders of cortisol biosynthesis, with 21-hydroxylase deficiency (CYP21A2 mutations) accounting for over 95% of cases, leading to cortisol and often aldosterone deficiency with accumulation of adrenal androgen precursors. Classic CAH presents in two forms: the severe salt-wasting form, which causes life-threatening adrenal crisis in neonates, and the simple virilising form, which causes androgen excess without significant mineralocorticoid deficiency. Non-classic CAH is a milder form presenting later in childhood or adulthood with signs of androgen excess, and is among the most common autosomal recessive conditions in humans.
Common clinical features
Neonatal adrenal crisis with vomiting, dehydration, and shock (salt-wasting form)Ambiguous genitalia in females at birth (46,XX DSD)Premature pubic and axillary hair developmentAccelerated early linear growth followed by reduced final adult heightAcne and hirsutism in adolescent and adult femalesMenstrual irregularities and subfertility in femalesTesticular adrenal rest tumours in affected malesElevated 17-hydroxyprogesterone on adrenal function testing
From Orphanet’s phenotype annotations (CC BY 4.0). Not a complete list.
Treatments being studied
2 approved treatments and 6 in clinical development, from Open Targets (CC BY 4.0). Not medical advice.
Approved: Hydrocortisone (Acetasol hc)Approved: Crinecerfont (Crenessity)
Phase 2Fludrocortisone Acetate (Astonin)
Phase 2Tildacerfont
Phase 2Abiraterone Acetate (Abiraterone accord)
Phase 2Nevanimibe Hydrochloride
Phase 1/2Nifedipine (Adalat)
Phase 1Verucerfont
Before you apply
Things trial teams commonly ask about for Congenital Adrenal Hyperplasia. Not eligibility rules; those are set by each study.
- Biochemical confirmation (elevated 17-OHP on ACTH stimulation testing) and genetic confirmation of CYP21A2 pathogenic variants are required for most interventional trials, particularly those studying novel glucocorticoid regimens.
- Current glucocorticoid type, dose, and dosing schedule are central to eligibility for trials of modified-release hydrocortisone or non-steroidal alternatives; detailed medication records are essential.
- Biomarker control (androstenedione, 17-OHP, renin levels) at baseline screening is used to assess disease control status and stratify enrolment; recent laboratory results should be available.
Related conditions
Information, not medical advice. Trial listings are shown as recorded on ClinicalTrials.gov; whether any study is right for you is a decision for you and your clinicians, and eligibility is decided by each research team. Disease information from Orphanet (CC BY 4.0).