A Study on the Prevalence of Mutation of Cerebrotendinous Xanthomatosis (CTX)

UnknownOBSERVATIONAL
Enrollment

800

Participants

Timeline

Start Date

December 1, 2019

Primary Completion Date

December 31, 2021

Study Completion Date

March 31, 2022

Conditions
Xanthomatosis, Cerebrotendinous
Interventions
GENETIC

Mutation Analysis

Specific members of nuclear and extended family relatives will be contacted to propose genetic counseling. Approvals for genetic testing will be asked and necessary information forms will be provided. A total of 5 ml of blood will be collected from each patient for DNA analysis. Blood samples will be analyzed at the Damagen Genetic Diagnosis Center (Ankara), after which no samples will be stored and all samples will be destroyed.

Trial Locations (1)

Unknown

Osmaniye / Index Case 1 Family Village, Osmaniye

Sponsors

Lead Sponsor

All Listed Sponsors
collaborator

Klinar CRO

OTHER

collaborator

Damagen Genetic Diagnostic Center

UNKNOWN

lead

TRPHARM

INDUSTRY

NCT04218006 - A Study on the Prevalence of Mutation of Cerebrotendinous Xanthomatosis (CTX) | Biotech Hunter | Biotech Hunter