NCT04113083

An Observational Study for Evaluation of for the Prevalence of Cerebrotendinous Xanthomatosis (CTX) Disease

An Epidemiological Observational Study for Retrospective and Prospective Evaluation of for the Prevalence of Cerebrotendinous Xanthomatosis (CTX) Disease in Neurology and Pediatric Metabolism Clinics in Turkey

• Status: Terminated
• Phase: —
• Study type: Observational
• Enrollment: 22 (actual)
• Sponsor: TRPHARM · Industry
• Sex: All
• Age: 40 Years
• Healthy volunteers: Not accepted

Summary

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. This observational study was designed retrospectively and prospectively in two stages. In the retrospective section, the patient database and / or patient files will be screened in the neurology and pediatric metabolism clinics and the patients aged 40 and below in the neurology clinics with at least two of the following will be enrolled to the study: * Ataxia and / or spasticity * Bilateral cataract (except senile cataract) * Intellectual limitation * Non-enhancing hyperintensity on T2 sections in MR imaging of dentate nuclei * Autosomal recessive transition pattern. (Ex: Relative Marriage) In the pediatric metabolism centers, cases suspected of CTX and planned to apply the Mignarri Index according to the investigator's opinion will be identified.

Conditions

• CTX - Cerebrotendinous Xanthomatosis

Interventions

Type	Name	Description
OTHER	Blood sampling for cholestanol analysis	Blood sampling will be performed by Düzen Laboratories group for cholestanol

Timeline

• Start date: 2019-10-19
• Primary completion: 2022-03-16
• Completion: 2022-06-10
• First posted: 2019-10-02
• Last updated: 2022-06-15

Locations

22 sites across 1 country: Turkey (Türkiye)