Disease · MONDO_0008948

cerebrotendinous xanthomatosis

6 sourcesdiseases-2026-09-18-0.1.0

Cite this record

ConductScience Library. cerebrotendinous xanthomatosis. Diseases, record MONDO_0008948. Release diseases-2026-09-18-0.1.0, 18 Sept 2026. https://conductscience.org/library/diseases/MONDO_0008948

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: cerebrotendinous xanthomatosis; Open Targets
Open Targets ID: MONDO_0008948; Open Targets
Other names: CTX, cholestanol storage disease, sterol 27-hydroxylase deficiency; Open Targets
Disease Ontology: DOID:4810; Disease Ontology
MeSH: D019294; MeSH
NCI Thesaurus: C84628; NCI Thesaurus
Orphanet: ORPHA:909; Orphanet
Highest stage of its drugs: Approval, for 1 of its 2 drugs, from EMA Human Drugs; Open Targets

Drugs2

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
CHENODIOL	CHEMBL240597	Small molecule	Approval	EMA Human Drugs	6	5	5	Drugs and targets
LOVASTATIN	CHEMBL503	Small molecule	Phase 2	ClinicalTrials.gov	1	1	1	Drugs and targets

Targets2

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
HMGCR	3-hydroxy-3-methylglutaryl-coenzyme A reductase	1	HMG-CoA reductase inhibitor	Phase 2	https://conductscience.org/library/genes/3156	Drugs and targets
NR1H4	Bile acid receptor	1	Bile acid receptor FXR agonist	Approval	https://conductscience.org/library/genes/9971	Drugs and targets

Trials5

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.

Trial	Title	Phase	Participants	Results first posted	Conditions	Drugs	Linked by	Source
NCT04270682	Study to Evaluate Patients With Cerebrotendinous Xanthomatosis (RESTORE)	Phase 3	19	2024-10-28	CTX	CHENODIOL	Its record names the disease	ClinicalTrials.gov
NCT05499026	Safety and Efficacy of CDCA in CTX Chenodeoxycholic Acid (CDCA) in Patients Affected by Cerebrotendinous Xanthomatosis (CTX)		28		Cerebrotendinous Xanthomatoses	CHENODIOL	Its record names the disease	ClinicalTrials.gov
NCT00004346	Phase II Study of Cholesterol- and Cholestanol-Free Diet, Lovastatin, and Chenodeoxycholic Acid for Cerebrotendinous Xanthomatosis	Phase 2	5		Cerebrotendinous Xanthomatosis	CHENODIOL, LOVASTATIN	Its record names the disease	ClinicalTrials.gov
NCT00018694	Cholestanol in Humans	Not applicable	0		Cerebrotendinous Xanthomatosis	CHENODIOL	Its record names the disease	ClinicalTrials.gov
NCT06260748	A Study of Chenodeoxycholic Acid (CDCA) in Newly Diagnosed Participants With Cerebrotendinous Xanthomatosis (CTX)	Phase 3	0		Cerebrotendinous Xanthomatoses	CHENODIOL	Its record names the disease	ClinicalTrials.gov

Comparisons in its trials0

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.

None in this release.

Papers from its trials0

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

None in this release.

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_0008948

GET https://conductscience.org/api/diseases/v1/MONDO_0008948/drugs

API reference For AI assistants