An Observational Study With Retrospective and Prospective Evaluations to Determine the Prevalence of Cerebrotendinous Xanthomatosis (CTX) Disorder in Juvenile Cataract Cases in Turkey
试验速览
- 阶段
- 不适用
- 发起方
- TRPHARM
- 入组人数
- 1,000
- 试验地点
- 36
- 主要终点
- Rate of juvenile cataract patients
研究概览
简要总结
Epidemiologic observational study. Study will include two phases:
- 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.
- 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.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Other
入排标准
- 年龄范围
- 1 Year 至 —（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •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.
排除标准
- •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.
结局指标
主要结局
Rate of juvenile cataract patients
时间窗: "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
次要结局
- Presence of consanguineous marriage("through study completion, an average of 3 years")
- The frequency of the systemic findings("through study completion, an average of 3 years")
- The frequency of the neurological symptoms("through study completion, an average of 3 years")
- CTX history in family("through study completion, an average of 3 years")