Classic congenital adrenal hyperplasia

Summary

Classic congenital adrenal hyperplasia (MONDO:0060783) is a disease and 5 clinical trials. Top therapeutic interventions include atumelnant. A subtype of congenital adrenal hyperplasia — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Clinical trials: 5

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	classic congenital adrenal hyperplasia
Mondo ID	MONDO:0060783
NCIT	C131423
UMLS	C4329672
MedGen	1390311
GARD	0026012
Is cancer (heuristic)	no

Also known as: classic CAH · classic congenital adrenal hyperplasia

Disease family

This is a subtype of congenital adrenal hyperplasia. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.

Classification path: disease › human disease › disease by etiologic mechanism › disease of genetic or genomic mechanism › hereditary disease › inborn errors of metabolism › inherited lipid metabolism disorder › steroid inherited metabolic disorder › congenital adrenal hyperplasia › classic congenital adrenal hyperplasia

Related subtypes (7): congenital lipoid adrenal hyperplasia due to STAR deficency, congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency, classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency, congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency, congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, non-classic congenital adrenal hyperplasia

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

No tiered GWAS variants or ClinVar records for this disease.

Genes & proteins

No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).

Function

No pathway enrichment — requires an associated-gene cohort.

Therapeutics

No druggable-target or therapeutic data for this disease’s cohort.

Clinical trials & evidence

Clinical trials

Clinical trials: 5.

Phase distribution (across all retrieved trials)

Phase	Trials
PHASE2	2
PHASE3	1
PHASE2/PHASE3	1
Not specified	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT07144163	PHASE3	RECRUITING	A Study to Evaluate Atumelnant in Adults With Congenital Adrenal Hyperplasia
NCT07159841	PHASE2/PHASE3	RECRUITING	A Study in Pediatric Participants With Congenital Adrenal Hyperplasia (Balance-CAH)
NCT06712823	PHASE2	RECRUITING	An Extension Study to Evaluate Safety and Efficacy in Participants Treated With CRN04894
NCT05907291	PHASE2	COMPLETED	Evaluate the Safety, Efficacy, and Pharmacokinetics of CRN04894 in Participants With Congenital Adrenal Hyperplasia (TouCAHn)
NCT06153043	Not specified	COMPLETED	Fertility and Pregnancy in Patients With Classic Congenital Adrenal Hyperplasia

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
ATUMELNANT	2	4