NCT03584893

The Prevalence of CTX Disorder in Juvenile Cataract Cases in Turkey

An Observational Study With Retrospective and Prospective Evaluations to Determine the Prevalence of Cerebrotendinous Xanthomatosis (CTX) Disorder in Juvenile Cataract Cases in Turkey

• Status: Unknown
• Phase: —
• Study type: Observational
• Enrollment: 1,000 (estimated)
• Sponsor: TRPHARM · Industry
• Sex: All
• Age: 1 Year
• Healthy volunteers: Not accepted

Summary

Epidemiologic observational study. Study will include two phases: 1. Retrospective cross-sectional phase: At this stage of the study, retrospective screenings are carried out at study sites and all juvenile cataract cases are planned to be determined. 2. Prospective phase: At this stage of the study, identified juvenile cataract cases as a result of retrospective screenings will be called to be invited to the sites and blood samples will be obtained for the cholestanol tests for the cases that have given Informed Consent. This observational study is designed in two phases; retrospective and prospective. Retrospective part includes screening the patient database and / or patient files at ophthalmology clinics participating in the study and identifying patients diagnosed with idiopathic juvenile cataracts. The data of patients with idiopathic juvenile cataracts will be reviewed and the data of the patients meeting the inclusion/exclusion criteria will be recorded. Once this phase is completed, the prospective phase of the study will start and the patients meeting the criteria will be invited to the site to participate in the study. Current data will be collected from the patients who agree to participate in the study and the clinical status of the patients will be evaluated according to the Mignarri index. In addition, blood will be obtained from all patients to diagnose CTX disease. Blood samples will be sent to Duzen Laboratories in Ankara and analyzed for cholestanol.

Conditions

• Cerebrotendinous Xanthomatosis

Interventions

Type	Name	Description
PROCEDURE	Blood sampling for Cholestanol Analysis	Cholestanol analysis will be performed to see the Rate of juvenile cataract patients whose cholestanol test result is above threshold (3.75 mg/mL) and suspected CTX cases

Timeline

• Start date: 2018-06-01
• Primary completion: 2022-12-31
• Completion: 2023-03-01
• First posted: 2018-07-12
• Last updated: 2021-03-29

Locations

36 sites across 1 country: Turkey (Türkiye)