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

Turkey (Türkiye)800 participantsStarted 2019-12-01

Plain-language 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.

Who can participate

SexALL

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Inclusion Criteria: * The family of each CTX index case should have more than 50 members in at least three generations. * CTX index cases should be from different families. * Index cases and relatives and / or legal representatives are required to be willing to give written informed consent. Exclusion Criteria: * Relatives of unconfirmed CTX index cases or non-homozygous CTX patients for disease-causing CTX mutation. * The patient and / or his / her legal representative does not consent to participate in the study.

What they're measuring

Frequency of CTX mutation

Timeframe: 1 year

Trial details

NCT IDNCT04218006

SponsorTRPHARM

Sponsor typeINDUSTRY

Study typeOBSERVATIONAL

Primary completion2021-12

View on ClinicalTrials.gov More Xanthomatosis, Cerebrotendinous trials