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

NCT04113083 · Status: TERMINATED · Type: OBSERVATIONAL · Enrollment: 22

Last updated 2022-06-15

No results posted yet for this study

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

OTHER

Blood sampling for cholestanol analysis

Blood sampling will be performed by Düzen Laboratories group for cholestanol

Sponsors & Collaborators

  • Klinar CRO

    collaborator OTHER

  • Düzen Laboratories Group

    collaborator UNKNOWN

  • TRPHARM

    lead INDUSTRY

Eligibility

Max Age
40 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2019-10-19
Primary Completion
2022-03-16
Completion
2022-06-10

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 NCT04113083 on ClinicalTrials.gov