The Prevalence of CTX Disorder in Juvenile Cataract Cases in Turkey
- Conditions
- Cerebrotendinous Xanthomatosis
- Interventions
- Procedure: Blood sampling for Cholestanol Analysis
- Registration Number
- NCT03584893
- Lead Sponsor
- TRPHARM
- Brief 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.
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- UNKNOWN
- Sex
- All
- Target Recruitment
- 1000
- Providing the written informed consent form
- The patient should be diagnosed with idiopathic bilateral juvenile cataract
- Idiopathic bilateral juvenile cataract should be diagnosed while the patient must be take a day from one year (age)
- Syria ciziten who take their citizenship of Turkey could be enrolled to the study after signing of Informed Consent Form that translated to mother tongue by sworn translation office approved by ethic committee.
- If the patient has been diagnosed with CTX before his/her enrollment in the study,
- If the patient has been diagnosed with cataract due to any known reasons other than CTX including cataracts related to trauma,
- If the patient has been diagnosed with cataract due to cataractogenic treatments,
- If the patient has participated in an interventional clinical study within the last 30 days,
- If the patient and/or his/her legal representative does not provide consent to participate in the study,
- If the patient will not be able to fulfill study requirements according to the investigator's opinion,
- If the patient had used cholic acid or chenodeoxycholic acid on or before the date of participation in the study
- Pregnancy and/or lactation
- Syria citizen that have not Turkey citizenship will not enroll to the study.
Study & Design
- Study Type
- OBSERVATIONAL
- Study Design
- Not specified
- Arm && Interventions
Group Intervention Description Epidemiologic observational study cohort Blood sampling for Cholestanol Analysis All patients over 1 year old diagnosed as idiopathic bilateral juvenile cataracts will be included in the study at the study sites.
- Primary Outcome Measures
Name Time Method Rate of juvenile cataract patients "through study completion, an average of 3 years" Rate of juvenile cataract patients whose cholestanol test result is above threshold (3.75 mg/mL) and suspected CTX cases
- Secondary Outcome Measures
Name Time Method Presence of consanguineous marriage "through study completion, an average of 3 years" Presence of consanguineous marriage
The frequency of the systemic findings "through study completion, an average of 3 years" The frequency of the following systemic findings:
* Tendon xanthomas
* Chronic diarrhea
* Prolonged neonatal jaundice
* Early osteoporosisThe frequency of the neurological symptoms "through study completion, an average of 3 years" The frequency of the following neurological symptoms:
* Cerebellar ataxia
* Spastic paraparesis
* Disruption of dentate nucleus signal detected by MRI
* Intellectual disability
* Psychiatric disorders
* Epilepsy
* Parkinson
* PolyneuropathyCTX history in family "through study completion, an average of 3 years" The history of the disease will be assessed from the patient records and by interview
Trial Locations
- Locations (36)
Dünya Göz Hospital
🇹🇷Ankara, Turkey
Akdeniz University Medical Faculty Department of Ophtalmology
🇹🇷Antalya, Turkey
Dicle University School of Medicine
🇹🇷Diyarbakır, Turkey
Fırat University School of Medicine
🇹🇷Elazığ, Turkey
Istanbul University Istanbul Medical Faculty Department of Ophtalmology
🇹🇷Istanbul, Turkey
Adana Başkent University School of Medicine
🇹🇷Adana, Turkey
Başkent University School of Medicine
🇹🇷Ankara, Turkey
Uludağ University Medical Faculty Department of Ophtalmology
🇹🇷Bursa, Turkey
Ankara Training and Research Hospital
🇹🇷Ankara, Turkey
Hacettepe University Medical Faculty Department of Ophtalmology
🇹🇷Ankara, Turkey
SBU Gülhane Training and Research Hospital
🇹🇷Ankara, Turkey
Ulucanlar Göz Training Hospital
🇹🇷Ankara, Turkey
Bursa Yüksek İhtisas Training and Research Hospital
🇹🇷Bursa, Turkey
Osmangazi University Medical Faculty Department of Ophtalmology
🇹🇷Eskişehir, Turkey
İstanbul Haseki Training and Research Hospital
🇹🇷Istanbul, Turkey
Ondokuz Mayıs University School of Medicine
🇹🇷Samsun, Turkey
Van 100. Yıl University Dursun Odabaş Medical Center
🇹🇷Van, Turkey
Adana State Hospital
🇹🇷Adana, Turkey
İstanbul Health Sciences University Kanuni Sultan Süleyman Training and Research Hospital
🇹🇷Istanbul, Turkey
Prof.Dr.N.Reşat Belger Beyoğlu Göz Training and Research Hospital
🇹🇷Istanbul, Turkey
Dokuz Eylül University Medical Faculty Department of Ophtalmology
🇹🇷İzmir, Turkey
Kayseri Training and Research Hospital
🇹🇷Kayseri, Turkey
İnönü University School of Medicine
🇹🇷Malatya, Turkey
Çukurova University Medical Faculty Department of Ophtalmology
🇹🇷Adana, Turkey
Ankara University Medical Faculty Department of Ophtalmology
🇹🇷Ankara, Turkey
Health Sciences University Ankara State Hospital
🇹🇷Ankara, Turkey
İzmir Dr. Behcet Uz Child Diseases and Surgery Training and Research Hospital
🇹🇷İzmir, Turkey
Sakarya University School of Medicine
🇹🇷Sakarya, Turkey
Gaziantep University Şahinbey Training and Research Hospital
🇹🇷Gaziantep, Turkey
Marmara University Pendik Training and Research Hospital
🇹🇷Istanbul, Turkey
Kocaeli University School of medicine
🇹🇷Kocaeli, Turkey
Harran University Research and Application Hospital
🇹🇷Şanlıurfa, Turkey
Marmara University Medical Faculty Department of Ophtalmology
🇹🇷Istanbul, Turkey
Ege University Medical Faculty Department of Ophtalmology
🇹🇷İzmir, Turkey
Mersin University Medical Faculty Department of Ophtalmology
🇹🇷Mersin, Turkey
Karadeniz Technical University School of Medicine
🇹🇷Trabzon, Turkey