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Disease

Cerebrotendinous xanthomatosis

Clinical development underway
Also known as CTX, CTx, cholestanol storage disease, sterol 27-hydroxylase deficiency+1 more

CTX, CTx, cholestanol storage disease, sterol 27-hydroxylase deficiency, cerebral cholesterinosis.

1
Clinical trials
2
Associated genes
1
Related proteins

What's happening now

An analyst briefing on current research, clinical, regulatory and industry activity surrounding this disease.

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Therapeutic landscape

Therapies with a regulatory footing for this condition, alongside the wider set of agents co-studied with it in the literature.

Approved & established therapies

Approval — Chenodeoxycholic acid is indicated for the treatment of inborn errors of primary bile aci… (2017)

Clinical trials

1 sponsors · 0 new · 0 completed in the last 12 months (net +0)

The current development programme across all trial phases.

Clinical programme
1
All trials
0
Active
0
Late-stage
0
Completed

Regulatory timeline

Drug regulatory events matched to this condition by indication — EMA.

First approvals
2017emaApprovalChenodeoxycholic Acid· Chenodeoxycholic acid is indicated for the treatment of inborn errors of primary bile acid synthesis due to sterol 27 hydroxylase deficiency (presenting as cerebrotendinous xanthomatosis (CTX)) in infants, children and adolescents aged 1 month to 18 years and adults. source ↗

European Medicines Agency (CC BY 4.0). Events are matched to this condition by drug indication text — approvals/updates for drugs indicated for it, not disease-specific acts.

Associated genes

2 matches

Genes associated with this disease in the canonical knowledge graph (Open Targets evidence). Number shows the association score.

Disease biology

1 match

Proteins whose encoding gene is associated with this disease, reached through the canonical gene→disease graph. Number shows the gene's association score.

Reference

Authoritative identity, definition & identifiers.

Synonyms

CTX, CTx, cholestanol storage disease, sterol 27-hydroxylase deficiency, cerebral cholesterinosis

References & data sources
  • Disease identity & definition — NLM Medical Subject Headings (MeSH), public domain
  • Clinical trials — ClinicalTrials.gov (U.S. National Library of Medicine)
  • Related entities are derived from literature co-mention (studied together) — associative, not causal.