Clinical trials: Cerebrotendinous Xanthomatosis (CTX)
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
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