Disease · MONDO_0018479

congenital adrenal hyperplasia

6 sourcesdiseases-2026-09-18-0.1.0

Cite this record

ConductScience Library. congenital adrenal hyperplasia. Diseases, record MONDO_0018479. Release diseases-2026-09-18-0.1.0, 18 Sept 2026. https://conductscience.org/library/diseases/MONDO_0018479

On this page

Disease

Names and IDs as Open Targets gives them. Its IDs in MeSH, Orphanet, the Disease Ontology and the NCI Thesaurus are those Open Targets states for it.

Name: congenital adrenal hyperplasia; Open Targets
Open Targets ID: MONDO_0018479; Open Targets
Other names: CAH, adrenal hyperplasia, congenital, congenital adrenal gland hyperplasia; Open Targets
Disease Ontology: DOID:0050811; Disease Ontology
MeSH: D000312; MeSH
NCI Thesaurus: C34360; NCI Thesaurus
Orphanet: ORPHA:418; Orphanet
Highest stage of its drugs: Approval, for 2 of its 16 drugs, from EMA Human Drugs and FDA; Open Targets

Drugs16

The drugs Open Targets' clinical reports study for the disease, the highest stage first, then the most trial reports. The stage is Open Targets', the highest any of its sources reports for the pair, and each row names the sources that report it.

Drug	ChEMBL ID	Type	Open Targets' stage	Stage reported by	Reports	Of them trials	Trials shown here	Source
HYDROCORTISONE	CHEMBL389621	Small molecule	Approval	EMA Human Drugs	18	16	14	Drugs and targets
CRINECERFONT	CHEMBL291657	Small molecule	Approval	FDA	10	6	6	Drugs and targets
FLUDROCORTISONE ACETATE	CHEMBL1201010	Small molecule	Phase 3	ClinicalTrials.gov	1	1	0	Drugs and targets
FLUTAMIDE	CHEMBL806	Small molecule	Phase 3	ClinicalTrials.gov	1	1	1	Drugs and targets
RELACORILANT	CHEMBL4068611	Small molecule	Phase 3	ClinicalTrials.gov	1	1	1	Drugs and targets
TESTOLACTONE	CHEMBL1571	Small molecule	Phase 3	ClinicalTrials.gov	1	1	1	Drugs and targets
ATUMELNANT	CHEMBL5414447	Small molecule	Phase 2/3	ClinicalTrials.gov	3	3	3	Drugs and targets
DEXAMETHASONE	CHEMBL384467	Small molecule	Phase 2/3	ClinicalTrials.gov	2	2	2	Drugs and targets
PREDNISONE	CHEMBL635	Small molecule	Phase 2/3	ClinicalTrials.gov	1	1	1	Drugs and targets
TILDACERFONT	CHEMBL5095198	Small molecule	Phase 2	ClinicalTrials.gov and TTD	5	3	3	Drugs and targets

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Targets11

The targets ChEMBL's mechanism records give for the disease's drugs, through Open Targets, the most drugs first. A mechanism record says what a drug acts on, not that the target causes the disease.

Target	Protein	Its drugs that act on it	Mechanisms	Highest stage of those drugs	Gene in Genes	Source
NR3C1	Glucocorticoid receptor	5	Glucocorticoid receptor agonist; Glucocorticoid receptor antagonist	Approval	https://conductscience.org/library/genes/2908	Drugs and targets
CRHR1	Corticotropin-releasing factor receptor 1	2	Corticotropin releasing factor receptor 1 antagonist	Approval	https://conductscience.org/library/genes/1394	Drugs and targets
AR	Androgen receptor	1	Androgen Receptor antagonist	Phase 3	https://conductscience.org/library/genes/367	Drugs and targets
CACNA1C	Voltage-gated L-type calcium channel	1	Voltage-gated L-type calcium channel blocker	Phase 1/2	https://conductscience.org/library/genes/775	Drugs and targets
CACNA1D	Voltage-gated L-type calcium channel	1	Voltage-gated L-type calcium channel blocker	Phase 1/2	https://conductscience.org/library/genes/776	Drugs and targets
CACNA1F	Voltage-gated L-type calcium channel	1	Voltage-gated L-type calcium channel blocker	Phase 1/2	https://conductscience.org/library/genes/778	Drugs and targets
CACNA1S	Voltage-gated L-type calcium channel	1	Voltage-gated L-type calcium channel blocker	Phase 1/2	https://conductscience.org/library/genes/779	Drugs and targets
CYP17A1	Steroid 17-alpha-hydroxylase/17,20 lyase	1	Cytochrome P450 17A1 inhibitor	Phase 2	https://conductscience.org/library/genes/1586	Drugs and targets
CYP19A1	Aromatase	1	Cytochrome P450 19A1 inhibitor	Phase 3	https://conductscience.org/library/genes/1588	Drugs and targets
NR3C2	Mineralocorticoid receptor	1	Mineralocorticoid receptor agonist	Phase 3	https://conductscience.org/library/genes/4306	Drugs and targets

1 to 10 of 11

See all 11 targets

Trials31

Trials an Open Targets clinical report links to the disease, posted results first, then the largest. A trial is shown when the release's checks confirm its link to the disease and Drugs and targets shows its link to one of the disease's drugs. 2 more are not shown, since the checks do not confirm them.

Trial	Title	Phase	Participants	Results first posted	Conditions	Drugs	Linked by	Source
NCT04490915	Global Safety and Efficacy Registration Study of Crinecerfont for Congenital Adrenal Hyperplasia	Phase 3	182	2025-02-05	Congenital Adrenal Hyperplasia	CRINECERFONT	Its record names the disease	ClinicalTrials.gov
NCT04308590	A Study of the Efficacy and Safety of Relacorilant in Patients With Cortisol-Secreting Adrenal Adenomas	Phase 3	137	2025-08-03	Hypercortisolism	RELACORILANT	Open Targets' reading of its record	ClinicalTrials.gov
NCT02716818	Comparison of Chronocort® With Standard Glucocorticoid Therapy in Patients With Congenital Adrenal Hyperplasia	Phase 3	122	2019-09-04	Congenital Adrenal Hyperplasia	HYDROCORTISONE	Its record names the disease	ClinicalTrials.gov
NCT04806451	Global Safety and Efficacy Registration Study of Crinecerfont in Pediatric Participants With Classic Congenital Adrenal Hyperplasia (CAHtalyst Pediatric Study)	Phase 3	103	2025-02-05	Congenital Adrenal Hyperplasia	CRINECERFONT	Its record names the disease	ClinicalTrials.gov
NCT04544410	A Ph2b to Evaluate Tildacerfont in the Reduction of Glucocorticoid Steroid Doses in Adult CAH	Phase 2	100	2025-10-01	Congenital Adrenal Hyperplasia	TILDACERFONT	Its record names the disease	ClinicalTrials.gov
NCT03062280	A Study of the Efficacy, Safety and Tolerability of Chronocort in Treating CAH	Phase 3	91	2024-10-24	Congenital Adrenal Hyperplasia	HYDROCORTISONE	Its record names the disease	ClinicalTrials.gov
NCT05128942	A Phase 2 Study to Evaluate the Safety, Efficacy and PK of Tildacerfont in Children Aged 2-17 Years With CAH	Phase 2	67	2025-12-24	Congenital Adrenal Hyperplasia, 21-OHD	TILDACERFONT	Its record names the disease	ClinicalTrials.gov
NCT00001521	Three Drug Combination Therapy Versus Conventional Treatment of Children With Congenital Adrenal Hyperplasia	Phase 3	66	2025-06-12	Congenital Adrenal Hyperplasia (CAH)	FLUTAMIDE, HYDROCORTISONE, TESTOLACTONE	Its record names the disease	ClinicalTrials.gov
NCT05063994	Comparison of Chronocort Versus Standard Hydrocortisone Replacement Therapy in Participants Aged 16 Years and Over With Congenital Adrenal Hyperplasia	Phase 3	55	2025-02-24	Congenital Adrenal Hyperplasia	HYDROCORTISONE	Its record names the disease	ClinicalTrials.gov
NCT00519818	Comparison of Two Forms of Hydrocortisone in Patients With Congenital Adrenal Hyperplasia	Phase 1/2	20	2014-08-27	Congenital Adrenal Hyperplasia, 21-Hydroxylase Deficiency, Adrenogenital Syndrome	HYDROCORTISONE	Its record names the disease	ClinicalTrials.gov

1 to 10 of 31

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Comparisons in its trials30

Comparisons Trial comparisons calculated in the trials shown here, most participants first. A comparison in one of these trials does not always compare a treatment for the disease, so read the two groups.

Comparison	Group 1, with the outcome	Group 2, with the outcome	Participants	Trial	Source
DB Period: Crinecerfont vs DB Period: Placebo: deaths from any cause	0 of 122	0 of 60	182	NCT04490915	Trial comparisons
DB Period: Crinecerfont vs DB Period: Placebo: serious adverse events	4 of 122	0 of 59	181	NCT04490915	Trial comparisons
Relacorilant vs Placebo: Number of Patients With 1 or More Treatment-emergent Adverse Events (TEAEs) as Graded by CTCAE v5.0.	67 of 68	60 of 69	137	NCT04308590	Trial comparisons
Relacorilant vs Placebo: deaths from any cause	1 of 68	0 of 69	137	NCT04308590	Trial comparisons
Relacorilant vs Placebo: serious adverse events	15 of 68	4 of 69	137	NCT04308590	Trial comparisons
Chronocort® vs Standard Glucocorticoid Therapy: deaths from any cause	0 of 61	0 of 61	122	NCT02716818	Trial comparisons
Chronocort® vs Standard Glucocorticoid Therapy: serious adverse events	7 of 61	5 of 61	122	NCT02716818	Trial comparisons
DB Period: Crinecerfont vs DB Period: Placebo: deaths from any cause	0 of 69	0 of 34	103	NCT04806451	Trial comparisons
DB Period: Crinecerfont vs DB Period: Placebo: serious adverse events	1 of 69	4 of 33	102	NCT04806451	Trial comparisons
Tildacerfont Group vs Placebo: Effect of Tildacrfont in Reducing GC Use to Near-physiologic Levels While Maintaining Androgen Control in Subjects With CAH	4 of 48	5 of 52	100	NCT04544410	Trial comparisons

1 to 10 of 30

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Papers from its trials13

The papers the trials shown here list on ClinicalTrials.gov as their results (RESULT) or as drawn from them (DERIVED), results first, newest first.

PMID	Listed as	Trials listing it	Source
39672600	RESULT	1	PubMed
37216921	RESULT	1	PubMed
37172949	RESULT	1	PubMed
34146101	RESULT	1	PubMed
27680873	RESULT	1	PubMed
20871859	RESULT	1	PubMed
38828955	DERIVED	1	PubMed
38828945	DERIVED	1	PubMed
33527139	DERIVED	2	PubMed
33278125	DERIVED	1	PubMed

1 to 10 of 13

See all 13 papers from its trials

Data dates

The date of each source this release read.

Open Targets: 2026-09-18; Open Targets
Drug links and their checks, from Drugs and targets: 2026-09-18; Drugs and targets
ClinicalTrials.gov, from Trials: 2026-11-12; Trials
Comparisons, from Trial comparisons: 2026-03-23; Trial comparisons
PubMed, for the checks: 2026-11-06; PubMed
MeSH, for the checks: 2026-11-10; MeSH

Sources 6

ClinicalTrials.gov's posted results, through CTTI's AACTFreely available. Acknowledgement requested
ChEMBL, through Open TargetsCC BY-SA 3.0
ClinicalTrials.govNo license stated
NLM's MeSHNLM's terms
Open TargetsCC0 1.0
PubMedNLM's terms

Each source's terms

ClinicalTrials.gov's posted results, through CTTI's AACTClinicalTrials.gov data via Aggregate Analysis of ClinicalTrials.gov (AACT), CTTI. CTTI makes its materials freely available and requests acknowledgement. https://aact.ctti-clinicaltrials.org/documentation/299
ChEMBL, through Open TargetsCC BY-SA 3.0, for the parts from ChEMBL. Read on 8 Nov 2026 at https://platform-docs.opentargets.org/licence
ClinicalTrials.govnone stated
NLM's MeSHNLM's
Open TargetsCC0 1.0. Open Targets asks that users cite its latest paper: Buniello et al. 2025, Open Targets Platform: facilitating therapeutic hypotheses building in drug discovery, Nucleic Acids Research 53(D1):D1467, PMID 39657122. Read on 8 Nov 2026 at https://platform-docs.opentargets.org/licence
PubMedNLM's terms

ClinicalTrials.gov's data carry an international copyright outside the United States: https://clinicaltrials.gov/about-site/terms-conditions.

For software

Read this disease from software.

The record and each of its lists are JSON, twenty rows a page. No key.

GET https://conductscience.org/api/diseases/v1/MONDO_0018479

GET https://conductscience.org/api/diseases/v1/MONDO_0018479/trials?page=2

API reference For AI assistants