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

NCT04218006 · Status: UNKNOWN · Type: OBSERVATIONAL · Enrollment: 800

Last updated 2021-04-01

No results posted yet for this study

Summary

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 throughout the clinics in Turkey. Relatives included in the study (relatives of CTX index cases) will be taken into clinical and genetic evaluation. Relatives will not receive any experimental intervention or treatment because of their participation in the study. Therefore, this study does not include a treatment protocol or does not have a predetermined visit flow chart. However, relatives of CTX index cases should give consent to genetic testing.

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.

Sponsors & Collaborators

  • Klinar CRO

    collaborator OTHER

  • Damagen Genetic Diagnostic Center

    collaborator UNKNOWN

  • TRPHARM

    lead INDUSTRY

Principal Investigators

  • Hasan Onal, Asc. Prof. · Kanuni Sultan Suleyman University Hospital, Pedaitric Metabolism

Eligibility

Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2019-12-01
Primary Completion
2021-12-31
Completion
2022-03-31

Countries

  • Turkey (Türkiye)

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT04218006 on ClinicalTrials.gov