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cerebrotendinous xanthomatosis (CTX) - Clinical Profile, Treatments & Trials | Kisho | Kisho

Features include always present findings: Shrinkage of the cerebellum (cerebellar atrophy), EEG with generalized slow activity, Lower limb muscle weakness, and Brain shrinkage (cerebral atrophy) and others. 37 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	13	Seizure, Ataxia, Hallucinations
Muscles	4	Shrinkage of the cerebellum (cerebellar atrophy), Lower limb muscle weakness, Brain shrinkage (cerebral atrophy)
Digestive system	4	Abnormal cholesterol levels (abnormal circulating cholesterol concentration), Diarrhea, Cholelithiasis
Eyes	2	Cataract, Optic disc pallor
Heart and blood vessels	2	Angina pectoris, Myocardial infarction
Kidneys and urinary system	1	Elevated urinary bile alcohol level
Bones and joints	1	Weak and brittle bones (osteoporosis)
Arms and legs	1	Lower limb muscle weakness
Lab test results	1	Elevated circulating bile alcohol concentration
Lungs and breathing	1	Difficulty breathing (respiratory insufficiency)

GeneReviews

Clinical Guidance

Cerebrotendinous xanthomatosis (CTX) is a lipid storage disease characterized by infantile-onset diarrhea, childhood-onset cataract, adolescent- to young adult-onset tendon xanthomas, and adult-onset progressive neurologic dysfunction (dementia, psychiatric disturbances, pyramidal and/or cerebellar signs, dystonia, atypical parkinsonism, peripheral neuropathy, and seizures). Intrafamilial variability is considerable. A suspicion index for diagnosis has been reported based on clinical and laboratory findings .

Table 3.

Cerebrotendinous Xanthomatosis: Frequency of Select Features

Feature | % of Persons w/Feature

Infantile-onset diarrhea | 40%

Childhood-onset cataract | 89%

Adolescent- to young adult-onset tendon xanthomas | 78%

Cardiovascular findings | 25%

Osteopenia | 67%

Source: GeneReviews — "Cerebrotendinous Xanthomatosis"

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

GeneReviews

Diagnostic Criteria

A consensus paper on the diagnostic criteria and management of cerebrotendinous xanthomatosis (CTX) has been published (full text). Suggestive Findings CTX, a lipid storage disease, should be suspected in individuals with the following clinical, laboratory, imaging, and family history findings. Clinical findings • Neonatal cholestasis • Infantile-onset diarrhea • Childhood-onset cataract • Adolescent- to young adult-onset tendon xanthomas • Adult-onset progressive neurologic dysfunction (dementia, psychiatric disturbances, pyramidal and/or cerebellar signs, and seizures) Laboratory findings • High plasma and tissue cholestanol concentration • Normal-to-low plasma cholesterol concentration • Markedly decreased formation of chenodeoxycholic acid as a result of impaired primary bile acid synthesis • Increased concentration of bile alcohols and their glyconjugates in bile, urine, and plasma • Increased concentration of cholestanol and apolipoprotein B in cerebrospinal fluid • Increased plasma lactate concentration Table 1. Biochemical Abnormalities in Cerebrotendinous Xanthomatosis

Analyte	Source	Concentration
In CTX	Normal Cholestanol	Plasma tissue
Bile alcohols	Urine	14,000±3500 nmol/L
Plasma	≤500-1000x normal	8.48±3.67; Bilateral hyperintensity of the dentate nuclei and cerebral and cerebellar white matter on brain MRI. Additional changes on brain CT and MRI include diffuse brain and cerebellar atrophy, white matter signal alterations, and bilateral focal cerebellar lesions.

Source: GeneReviews — "Cerebrotendinous Xanthomatosis"

GeneReviews

Differential Diagnosis

Selected monogenic disorders that may present with clinical features similar to those of cerebrotendinous xanthomatosis are summarized in . Table 4. Selected Monogenic Disorders in the Differential Diagnosis of Cerebrotendinous Xanthomatosis

Feature	Genetic Disorder	Gene(s)	MOI
diarrhea	Congenital diarrhea (OMIM PS214700)	DGAT1 EPCAM GUCY2C MYO5B NEUROG3 PERCC1 PLVAP SLC26A3 SLC9A3 SPINT2 STX3 WNT2B	ARAD1 Neonatal cholestasis2
Xanthomas	Sitosterolemia. Note: Tendon xanthomas or tuberous (i.e., planar) xanthomas can occur in childhood in unusual locations (heels, knees, elbows, buttocks).

Genetic testing for CYP27A1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for cerebrotendinous xanthomatosis has been reported in the published literature.

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

1 FDA-approved treatment is available for cerebrotendinous xanthomatosis, including CHENODIOL (CTEXLI, approved 2025). An additional 1 compound holds orphan drug designation.

Approved Therapies

Brand Name	Generic Name	Mechanism	Approved	Market Status
CTEXLI	CHENODIOL	—	2025	Available

Orphan Drug Designations

The following drugs have received orphan drug designation from the FDA for cerebrotendinous xanthomatosis. Orphan designation reflects regulatory interest and does not indicate approval for treatment.

Brand Name	Generic Name	Sponsor	Designated	Exclusivity End	Designation Status
chenodeoxycholic acid	chenodeoxycholic acid	Leadiant Biosciences, Inc.	2007	—	Designated

GeneReviews

Management Guidelines

A clinical practice guideline on the diagnosis, treatment, and management of cerebrotendinous xanthomatosis (CTX) has been published, based on expert opinion collected with the Delphi method (full text). Evaluations Following Initial Diagnosis To establish the extent of disease and needs in an individual diagnosed with CTX, the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended. Table 5. Cerebrotendinous Xanthomatosis: Recommended Evaluations Following Initial Diagnosis

System/Concern	Evaluation	Comment
cholestanol level	Lab testing of lipids incl plasma cholestanol level	—
Peripheral neuropathy	EMG NCV studies as baseline

GeneReviews

Clinical Guidance

Caution in the use of statins has been suggested . See .

Source: GeneReviews — "Cerebrotendinous Xanthomatosis"

GeneReviews

Therapies Under Investigation

Gene therapies are under investigation in a mouse model of CTX . Search ClinicalTrials.gov in the US and EU Clinical Trials Register in Europe for access to information on clinical studies for a wide range of diseases and conditions.

Source: GeneReviews — "Cerebrotendinous Xanthomatosis"

Clinical Trials

1 trial found

Explore Trials

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

1 clinical trial registered. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

88 publications have been identified in PubMed for cerebrotendinous xanthomatosis. Research spans Case Report / Case Series (38%), Review / Meta-Analysis (22%), and Other (10%).

Research Type	Count	% of Total
Patient case studies	33	38%
Research summaries	19	22%
Other research	9	10%
Testing and diagnosis research	8	9%
Disease patterns and progression	7	8%
Clinical study results	6	7%
Laboratory research	4	5%
New treatment approaches	2	2%

Recent Publications

Zhang J (2026). [PMID: 42102977](https://pubmed.ncbi.nlm.nih.gov/42102977/). *Ageing Res Rev*. [Review / Meta-Analysis]
Aparicio Sánchez JL (2026). [PMID: 41864813](https://pubmed.ncbi.nlm.nih.gov/41864813/). *An Pediatr (Engl Ed)*. [Case Report / Case Series]
Stocchero M (2026). [PMID: 42027069](https://pubmed.ncbi.nlm.nih.gov/42027069/). *Anal Chem*. [Clinical Trial Publication]
Cesur Baltacı HN (2026). [PMID: 41064050](https://pubmed.ncbi.nlm.nih.gov/41064050/). *Mol Syndromol*. [Case Report / Case Series]
Bouwhuis N (2026). [PMID: 41871933](https://pubmed.ncbi.nlm.nih.gov/41871933/). *Eur J Hosp Pharm*. [Other]
Ouskri A (2026). [PMID: 41582284](https://pubmed.ncbi.nlm.nih.gov/41582284/). *Neurogenetics*. [Case Report / Case Series]
Sipma R (2026). [PMID: 41952854](https://pubmed.ncbi.nlm.nih.gov/41952854/). *Front Neurol*. [Diagnostic / Biomarker]
Kuhli-Hattenbach C (2026). [PMID: 41514143](https://pubmed.ncbi.nlm.nih.gov/41514143/). *Ophthalmologie*. [Other]
Camelo-Filho AE (2026). [PMID: 41996025](https://pubmed.ncbi.nlm.nih.gov/41996025/). *Cerebellum*. [Diagnostic / Biomarker]
Calisgan K (2026). [PMID: 41848945](https://pubmed.ncbi.nlm.nih.gov/41848945/). *Metab Brain Dis*. [Diagnostic / Biomarker]

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cerebrotendinous xanthomatosis

Overview

Clinical Presentation

Clinical Guidance

Explore clinical features

Genetic Landscape

Clinical Guidance

Diagnosis

Diagnostic Criteria

Differential Diagnosis

Treatment

Approved Therapies

Orphan Drug Designations

Management Guidelines

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Prognosis

Surveillance Guidelines

Cardiac concerns

Osteoporosis

Research Landscape

Recent Publications

Patient Support

Financial & Access Support (External Programs)

Patient Advocacy Groups

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Latest News & Developments

Safety and Effectiveness of Pharmacy Compounded Chenodeoxycholic Acid Capsules for Patients With Cerebrotendinous Xanthomatosis.

cerebrotendinous xanthomatosis

Overview

Clinical Presentation

Clinical Guidance

Explore clinical features

Genetic Landscape

Clinical Guidance

Diagnosis

Diagnostic Criteria

Differential Diagnosis

Treatment

Approved Therapies

Orphan Drug Designations

Management Guidelines

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Prognosis

Surveillance Guidelines

Cardiac concerns

Osteoporosis

Research Landscape

Recent Publications

Patient Support

Financial & Access Support (External Programs)

Patient Advocacy Groups

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Latest News & Developments

Safety and Effectiveness of Pharmacy Compounded Chenodeoxycholic Acid Capsules for Patients With Cerebrotendinous Xanthomatosis.