RecruitingNCT03047369
Metabolic
Cerebrotendinous Xanthomatosis
Also known as CTX, CYP27A1 deficiency, sterol 27-hydroxylase deficiency, cholestanol storage disease
Cerebrotendinous xanthomatosis (CTX) is caused by mutations in CYP27A1 encoding sterol 27-hydroxylase, which is essential for normal bile acid synthesis. Accumulation of cholestanol and cholesterol in tissues causes tendon xanthomas, premat
ORPHA:909 ↗Gene CYP27A1Prevalence 1-9 per 100,000 (Orphanet)Onset Childhood, Adolescent, AdultAutosomal recessive genetic
3
studies recruiting now
as of 7 Sept 2026
23
studies registered in total
as of 7 Sept 2026
3
countries with a recruiting site
as of 7 Sept 2026
13 Jun 2024
most recent study posted
among recruiting studies
Recruiting trials
RecruitingNot applicableNCT06456827
''Comparative Evaluation of Change in Bite Force and Levels of Bone Turnover Markers CTX and BALP in Hyperdivergent and Hypodivergent Cases During Retention Phases-A Prospective Clinical Trial ''
RecruitingNCT04880356
Longitudinal Study of Ultra-rare Inherited Metabolic and Degenerative Neurological Diseases.
Showing the 3 most recently updated recruiting studies, as recorded 7 Sept 2026. Live status on each study page.
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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 Cerebrotendinous Xanthomatosis
Cerebrotendinous xanthomatosis (CTX) is caused by mutations in CYP27A1 encoding sterol 27-hydroxylase, which is essential for normal bile acid synthesis. Accumulation of cholestanol and cholesterol in tissues causes tendon xanthomas, premature cataracts, chronic diarrhea, and progressive neurological deterioration including cerebellar ataxia, spasticity, and dementia. Chenodeoxycholic acid (CDCA) replacement therapy reduces cholestanol levels and can halt or reverse neurological progression when started early.
Common clinical features
Tendon xanthomasPremature cataractsCerebellar ataxiaSpasticityChronic diarrhea in childhoodCognitive declinePsychiatric symptoms
From Orphanet’s phenotype annotations (CC BY 4.0). Not a complete list.
Treatments being studied
1 approved treatment and 1 in clinical development, from Open Targets (CC BY 4.0). Not medical advice.
Approved: Chenodiol (Chendol 125)
Phase 2Lovastatin (Altoprev)
Before you apply
Things trial teams commonly ask about for Cerebrotendinous Xanthomatosis. Not eligibility rules; those are set by each study.
- Plasma cholestanol level is the primary diagnostic and treatment monitoring biomarker
- Chenodeoxycholic acid (CDCA) is the standard treatment — trials may study novel bile acid formulations or combination therapies
- Brain MRI white matter lesions and cerebellar atrophy are key staging markers
- CTX is frequently misdiagnosed as multiple sclerosis or spinocerebellar ataxia — genetic confirmation of CYP27A1 variants is required
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).