Overview
Cerebrotendinous xanthomatosis (CTX), also known as cerebral cholesterinosis or Van Bogaert-Scherer-Epstein syndrome, is a rare inherited lipid storage disorder caused by mutations in the CYP27A1 gene, which encodes the mitochondrial enzyme sterol 27-hydroxylase. This enzyme deficiency disrupts bile acid synthesis, leading to the abnormal accumulation of cholestanol and cholesterol in the brain, tendons, eyes, and other tissues throughout the body. CTX affects multiple organ systems including the nervous system, musculoskeletal system, eyes, cardiovascular system, and gastrointestinal tract. The clinical presentation of CTX is highly variable and evolves over time. In infancy and childhood, chronic diarrhea and bilateral cataracts are often the earliest manifestations. During adolescence and adulthood, patients may develop tendon xanthomas (lipid deposits, particularly in the Achilles tendons), progressive neurological deterioration including cerebellar ataxia, spasticity, peripheral neuropathy, cognitive decline and dementia, psychiatric disturbances, and seizures. Premature atherosclerosis and osteoporosis are also common complications. Without treatment, the disease follows a progressive course leading to significant disability. Early diagnosis and treatment are critical, as CTX is one of the few treatable lipid storage disorders. The primary treatment is oral chenodeoxycholic acid (CDCA) replacement therapy, which suppresses the abnormal bile acid synthesis pathway, reduces cholestanol levels, and can halt or even reverse disease progression, particularly when initiated early. HMG-CoA reductase inhibitors (statins) may be used as adjunctive therapy to further lower cholestanol levels. Supportive treatments address specific symptoms such as cataracts (surgical removal), epilepsy, and spasticity. Newborn screening programs for CTX are being explored to enable earlier intervention.
Also known as:
Clinical phenotype terms— hover any for plain English:
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Variable
Can begin at different ages, from infancy through adulthood
FDA & Trial Timeline
10 eventsBeijing Biotech — PHASE1
Eli Lilly and Company — PHASE2
Henan Cancer Hospital — PHASE2
Zhejiang Teruisi Pharmaceutical Inc. — PHASE1, PHASE2
M.D. Anderson Cancer Center — PHASE1
Eastern Cooperative Oncology Group — PHASE2
Northside Hospital, Inc. — PHASE2
Sidney Kimmel Comprehensive Cancer Center at Johns Hopkins — PHASE1, PHASE2
National and Kapodistrian University of Athens
European Institute of Oncology — PHASE2
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for Cerebrotendinous xanthomatosis.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Cerebrotendinous xanthomatosis at this time.
New trials open frequently. Follow this disease to get notified.
Rare Disease Specialist
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Financial Resources
1 resourcesChenix
Solvay
Chenix — Contact Solvay
Travel Grants
No travel grants are currently matched to Cerebrotendinous xanthomatosis.
Community
No community posts yet. Be the first to share your experience with Cerebrotendinous xanthomatosis.
Start the conversation →Latest news about Cerebrotendinous xanthomatosis
Disease timeline:
New recruiting trial: DPX-Survivac and Pembrolizumab With and Without Intermittent Low-Dose Cyclophosphamide, in Subjects With Relapsed/Refractory Diffuse Large B-Cell Lymphoma
A new clinical trial is recruiting patients for Cerebrotendinous xanthomatosis
New recruiting trial: Phase I Study of Autologous Tumor-Draining Lymph Node-Derived Lymphocytes as Neoadjuvant Therapy for HER2-Negative Breast Cancer
A new clinical trial is recruiting patients for Cerebrotendinous xanthomatosis
New recruiting trial: Adding an Immunotherapy Drug, MEDI4736 (Durvalumab), to the Usual Chemotherapy Treatment (Paclitaxel, Cyclophosphamide, and Doxorubicin) for Stage II-III Breast Cancer
A new clinical trial is recruiting patients for Cerebrotendinous xanthomatosis
New recruiting trial: TBI Using IMRT and Cyclophosphamide Prior to Stem Cell Transplant for the Treatment of Severe Systemic Sclerosis
A new clinical trial is recruiting patients for Cerebrotendinous xanthomatosis
New recruiting trial: Dose-Expansion Study of Low Dose Post-Transplant Cyclophosphamide/Tacrolimus/Ruxolitinib for Graft-versus-Host Disease (GVHD) Prophylaxis in Myeloablative Allogeneic Peripheral Blood Stem Cell Transplantation
A new clinical trial is recruiting patients for Cerebrotendinous xanthomatosis
New recruiting trial: A Study to Evaluate LY3537021 for the Treatment of Nausea and Vomiting Caused by Chemotherapy in Adults With Cancer
A new clinical trial is recruiting patients for Cerebrotendinous xanthomatosis
New recruiting trial: Study of High-Intensity Focused Ultrasound (HIFU) Combined With Toripalimab Plus Chemotherapy Versus Chemotherapy as Neoadjuvant Therapy for Estrogen Receptor-Positive/Human Epidermal Growth Factor Receptor 2-Negative (ER+/HER2-) Breast Cancer (NeoHunter)
A new clinical trial is recruiting patients for Cerebrotendinous xanthomatosis
New recruiting trial: CMOEP in the Treatment of Untreated Peripheral T-cell Lymphoma
A new clinical trial is recruiting patients for Cerebrotendinous xanthomatosis
New recruiting trial: Efficacy and Safety of Dose-dense Chemotherapy (ddEC-ddP) for Neoadjuvant Chemotherapy of HER2-negative Breast Cancer
A new clinical trial is recruiting patients for Cerebrotendinous xanthomatosis
New recruiting trial: Dual-Target Nectin-4/HER2 CAR-NK Cells in Advanced Urothelial Carcinoma
A new clinical trial is recruiting patients for Cerebrotendinous xanthomatosis
Caregiver Resources
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Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Common questions about Cerebrotendinous xanthomatosis
What is Cerebrotendinous xanthomatosis?
Cerebrotendinous xanthomatosis (CTX), also known as cerebral cholesterinosis or Van Bogaert-Scherer-Epstein syndrome, is a rare inherited lipid storage disorder caused by mutations in the CYP27A1 gene, which encodes the mitochondrial enzyme sterol 27-hydroxylase. This enzyme deficiency disrupts bile acid synthesis, leading to the abnormal accumulation of cholestanol and cholesterol in the brain, tendons, eyes, and other tissues throughout the body. CTX affects multiple organ systems including the nervous system, musculoskeletal system, eyes, cardiovascular system, and gastrointestinal tract.
How is Cerebrotendinous xanthomatosis inherited?
Cerebrotendinous xanthomatosis follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
Which specialists treat Cerebrotendinous xanthomatosis?
25 specialists and care centers treating Cerebrotendinous xanthomatosis are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.
What treatment and support options exist for Cerebrotendinous xanthomatosis?
1 patient support program are currently tracked on UniteRare for Cerebrotendinous xanthomatosis. See the treatments and support programs sections for copay assistance, eligibility, and contact details.