Clinical trials: Cerebrotendinous Xanthomatosis
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.
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
Inherited Disease, Rare Diseases
Longitudinal Study of Ultra-rare Inherited Metabolic and Degenerative Neurological Diseases.
General aim of the study is the improvement of the clinical knowledge of ultra-rare inherited metabolic and degenerative neurological diseases (prevalence less than 5:100,000) in adulthood through the systematic longitudinal…
- Conditions
- Inherited Disease, Rare Diseases, Metabolic Disease, Undiagnosed Disease
- Trial name
- NCT04880356
- Testing
- collection of data
- Where
- Italy
- Volunteers
- 100 people
- Sponsor
- Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta
Hypoparathyroidism
Effects of a Liquid Meal and Gut Hormones (GIP and GLP-2) on Bone Remodeling in Participants With Hypoparathyroidism.
Hypoparathyroidism (hypoPT) is characterized by low levels of PTH. In this study we will test the effects of a liquid meal on the bone remodeling in participants with hypoparathyroidism.
- Trial name
- KS-4-HypoPT (NCT03728959)
- Testing
- Liquid meal (Nutridrink), GIP, GLP-2
- Where
- Denmark
- Volunteers
- 7 people
- Sponsor
- University of Copenhagen
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
Diabetes Mellitus, Type 2
Investigation for Health Efficacy of Infrared-C Radiation on Diabetes Patients in Senior's Activity Center
Hyperglycemia caused by diabetes will bring us the long-term damage，it causes glycation. The combination of sugar molecules and protein molecules will transform to advanced glycation end products (AGEs) and produce a lot of free…
- Trial name
- NCT04177420
- Testing
- FIR-C mattress, FIR-C abdominal pad, fake FIR-C mattress
- Where
- Taiwan
- Volunteers
- 64 people
- Sponsor
- Nanhua University
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
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
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
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.
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
Relapse, Bite Force
''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 ''
Long-term studies have shown that various occlusal changes occur after the active phase of orthodontic treatment. some of these changes are unwanted changes and are considered as relapse The retention appliances are used to…
- Conditions
- Relapse, Bite Force, Biomarker
- Trial name
- NCT06456827
- Testing
- Bite force and Gcf
- Where
- India
- Volunteers
- 40 people, healthy volunteers welcome
- Sponsor
- Postgraduate Institute of Dental Sciences Rohtak
Cerebrotendinous Xanthomatoses
Bioequivalence Study to Compare Chenodeoxycholic Acid Capsules (250mg Chenodeoxycholic Acid) Versus Chenodeoxycholic Acid Leadiant 250 mg Hard Capsules (250mg Chenodeoxycholic Acid)
Randomized, two-way, two-period, single oral dose, open-label, crossover, bioequivalence study to compare Chenodeoxycholic acid capsules (250mg chenodeoxycholic acid) [dose: 1 x 02 capsules] versus Chenodeoxycholic acid leadiant…
- Trial name
- NCT06180057
- Testing
- Chenodeoxycholic acid, Chenodeoxycholic acid leadiant
- Where
- Jordan
- Volunteers
- 24 people, healthy volunteers welcome
- Sponsor
- Humanis Saglık Anonim Sirketi
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.
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
Osteoporosis
Efficacy Study of Zoledronic Acid and Teriparatide Combination Therapy in Women With Osteoporosis
The purpose of this study is to assess the effects of zoledronic acid administered at the same time with teriparatide compared to zoledronic acid alone and teriparatide alone on bone mineral density (BMD) gain in the lumbar spine…
- Trial name
- NCT00439244
- Testing
- Zoledronic acid, Teriparatide
- Where
- 33 sites in United States, Belgium and 2 more
- Volunteers
- 412 people
- Sponsor
- Novartis
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
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
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
Vitamin D Deficiency
The Role of Narrowband Ultraviolet B Exposure in the Maintenance of Vitamin D Levels During Winter
The investigators investigated the ability of narrowband ultraviolet B (nbUVB) treatment in the maintenance of vitamin D levels achieved during the summer in Finland.
- Trial name
- NCT02275650
- Testing
- nbUVB
- Where
- 2 sites in Finland
- Volunteers
- 37 people, healthy volunteers welcome
- Sponsor
- Joint Authority for Päijät-Häme Social and Health Care