Clinical trials: Cerebrotendinous Xanthomatosis
Cerebrotendinous Xanthomatosis (CTX)
Cerebrotendinous Xanthomatosis (CTX) Prevalence Study
Iiopathic bilateral cataracts occur in many children with Cerebrotendinous Xanthomatosis (CTX) so the opportunity to use contact with health care providers in connection with pediatric cataract evaluation and treatment is a…
- Trial name
- NCT02638220
- Where
- 44 sites in United States
- Volunteers
- 442 people
- Sponsor
- Travere Therapeutics, Inc.
Cerebrotendinous Xanthomatoses
A Study of Chenodeoxycholic Acid (CDCA) in Newly Diagnosed Participants With Cerebrotendinous Xanthomatosis (CTX)
This study is designed to demonstrate the beneficial effect of CDCA in the treatment of CTX-associated diarrhea in approximately 10 participants aged 2-75 years old with newly diagnosed CTX or suspected CTX who have never…
- Trial name
- NCT06260748
- Testing
- Chenodeoxycholic acid
- Where
- Israel
- Sponsor
- Leadiant Biosciences, Inc.
Collagen Degeneration
Type I Collagen Fragments in the GCF and Saliva During OTM
Investigate the levels of type I Collagen fragments ICTP and CTX in GCF and saliva during initial leveling and alignment of the teeth in a sample of adolescents undergoing orthodontic treatment.
- Trial name
- NCT05020431
- Testing
- Biological measuring of collagen fragments biomarker during orthodontic tooth movement
- Where
- Egypt
- Volunteers
- 14 people, healthy volunteers welcome
- Sponsor
- Alexandria University
Cerebrotendinous Xanthomatosis
Phase II Study of Cholesterol- and Cholestanol-Free Diet, Lovastatin, and Chenodeoxycholic Acid for Cerebrotendinous Xanthomatosis
OBJECTIVES: I. Assess the biosynthesis of cholesterol and cholestanol, and measure the turnover of individual sterols and bile acids in patients with cerebrotendinous xanthomatosis before and after a cholesterol- and…
- Trial name
- NCT00004346
- Testing
- chenodeoxycholic acid, lovastatin
- Where
- United States
- Volunteers
- 5 people
- Sponsor
- National Center for Research Resources (NCRR)
Leukodystrophy, White Matter Disease
The Myelin Disorders Biorepository Project
The Myelin Disorders Biorepository Project (MDBP) seeks to collect and analyze clinical data and biological samples from leukodystrophy patients worldwide to support ongoing and future research projects.
- Conditions
- Leukodystrophy, White Matter Disease, Leukoencephalopathies, 4H Syndrome
- Trial name
- MDBP (NCT03047369)
- Where
- 23 sites in United States
- Volunteers
- 12,000 people
- Sponsor
- Children's Hospital of Philadelphia
Cerebrotendinous Xanthomatosis
The Prevalence of CTX Disorder in Juvenile Cataract Cases in Turkey
Epidemiologic observational study. Study will include two phases: 1. Retrospective cross-sectional phase: At this stage of the study, retrospective screenings are carried out at study sites and all juvenile cataract cases are…
- Trial name
- GEN-EYE-I (NCT03584893)
- Testing
- Blood sampling for Cholestanol Analysis
- Where
- 36 sites in Turkey (Türkiye)
- Volunteers
- 1,000 people
- Sponsor
- TRPHARM
Cerebrotendinous Xanthomatoses
Safety and Efficacy of CDCA in CTX Chenodeoxycholic Acid (CDCA) in Patients Affected by Cerebrotendinous Xanthomatosis (CTX)
Retrospective study of CTX patients to investigate the safety and clinical efficacy of Chenodeoxycholic Acid
- Trial name
- NCT05499026
- Testing
- Chenodeoxycholic Acid
- Volunteers
- 28 people
- Sponsor
- Leadiant Biosciences Ltd.
Xanthomatosis, Cerebrotendinous
A Study on the Prevalence of Mutation of Cerebrotendinous Xanthomatosis (CTX)
This is a prospective, non-drug epidemological cohort study aimed to investigate the relatives of these cases with CTX-specific gene mutation and clinical features of CTX disease over CTX index cases diagnosed with CTX disease…
- Trial name
- F-GENE (NCT04218006)
- Testing
- Mutation Analysis
- Where
- Turkey (Türkiye)
- Volunteers
- 800 people, healthy volunteers welcome
- Sponsor
- TRPHARM
Leukodystrophy, White Matter Disease
LeukoSEQ: Whole Genome Sequencing as a First-Line Diagnostic Tool for Leukodystrophies
Leukodystrophies, and other heritable disorders of the white matter of the brain, were previously resistant to genetic characterization, largely due to the extreme genetic heterogeneity of molecular causes.
- Conditions
- Leukodystrophy, White Matter Disease, 4H Syndrome, Adrenoleukodystrophy
- Trial name
- NCT02699190
- Where
- United States
- Volunteers
- 236 people
- Sponsor
- Children's Hospital of Philadelphia
Cerebrotendinous Xanthomatosis
Cholestanol in Humans
The treatment of cerebrotendinous xanthomatosis an in born error of bile acid synthesis with chenodeoxycholic acid. Patients with this disease over produce cholestanol and bile acid precursors because of the block in synthesis.
- Trial name
- NCT00018694
- Testing
- Chenodeoxycholic Acid
- Where
- United States
- Sponsor
- US Department of Veterans Affairs
Spinal Muscular Atrophy, Fragile X Syndrome
Early Check: Expanded Screening in Newborns
Early Check provides voluntary screening of newborns for a selected panel of conditions. The study has three main objectives: 1) develop and implement an approach to identify affected infants, 2) address the impact on infants and…
- Conditions
- Spinal Muscular Atrophy, Fragile X Syndrome, Fragile X - Premutation, Duchenne Muscular Dystrophy
- Trial name
- NCT03655223
- Testing
- Confirmatory Testing
- Where
- United States
- Volunteers
- 30,000 people, healthy volunteers welcome
- Sponsor
- RTI International
Acid Sphingomyelinase Deficiency, Ceroid Lipofuscinosis, Neuronal, 2
ScreenPlus: A Comprehensive, Flexible, Multi-disorder Newborn Screening Program
ScreenPlus is a consented, multi-disorder pilot newborn screening program implemented in conjunction with the New York State Newborn Screening Program that provides families the option to have their newborn(s) screened for a…
- Conditions
- Acid Sphingomyelinase Deficiency, Ceroid Lipofuscinosis, Neuronal, 2, Cerebrotendinous Xanthomatosis, Fabry Disease
- Trial name
- ScreenPlus (NCT05368038)
- Testing
- Confirmatory Testing
- Where
- 9 sites in United States
- Volunteers
- 100,000 people, healthy volunteers welcome
- Sponsor
- Albert Einstein College of Medicine
Diffuse Intrinsic Pontine Glioma (DIPG), Brain Stem Glioma
Brain Stem Gliomas Treated With Adoptive Cellular Therapy During Focal Radiotherapy Recovery Alone or With Dose-intensified Temozolomide (Phase I)
The standard of care for children with DIPG includes focal radiotherapy (RT) but outcomes have remained dismal despite this treatment.
- Trial name
- BRAVO (NCT03396575)
- Testing
- TTRNA-DC vaccines with GM-CSF, TTRNA-xALT, Cyclophosphamide + Fludarabine Lymphodepletive Conditioning
- Where
- United States
- Volunteers
- 11 people
- Sponsor
- University of Florida
Cerebrotendinous Xanthomatosis (CTX)
Evaluation of Carotid IMT and Atherogenic Risk Factors in Patients With Cerebrotendinous Xanthomatosis
The aim of the proposed study is to evaluate the risk for cardiovascular disease and 'atherogenic' features of the serum in CTX and to determine preclinical atherosclerosis.
- Trial name
- CTX (NCT01613898)
- Testing
- Blood tests
- Where
- Israel
- Volunteers
- 17 people
- Sponsor
- Sheba Medical Center
CTX
Study to Evaluate Patients With Cerebrotendinous Xanthomatosis (RESTORE)
The study is made up of two cohorts: a randomized double-blind crossover (placebo withdrawal with rescue) study among patients ≥ 16 years of age (adult cohort) and an open-label dose titration study among pediatric patients ≥1…
- Trial name
- NCT04270682
- Testing
- Blinded CDCA 250 mg TID, Open-Label CDCA 250 mg TID, Rescue Medication CDCA 250 mg TID
- Where
- 12 sites in United States, Brazil
- Volunteers
- 19 people
- Sponsor
- Mirum Pharmaceuticals, Inc.
CTX - Cerebrotendinous Xanthomatosis
An Observational Study for Evaluation of for the Prevalence of Cerebrotendinous Xanthomatosis (CTX) Disease
The prevalence of CTX in our country is estimated to be 1 / 50.000. The aim of this study is to screen more volunteers by conducting a larger screening from neurology and pediatric metabolism clinics in Turkey.
- Trial name
- GEN-EYE-II (NCT04113083)
- Testing
- Blood sampling for cholestanol analysis
- Where
- 22 sites in Turkey (Türkiye)
- Volunteers
- 22 people
- Sponsor
- TRPHARM