View clinical trials related to Cerebrotendinous Xanthomatosis.
Filter by:ScreenPlus is a consented, multi-disorder pilot newborn screening program implemented in conjunction with the New York State Newborn Screening Program that provides families the option to have their newborn(s) screened for a panel of additional conditions. The study has three primary objectives: 1) define the analytic and clinical validity of multi-tiered screening assays for a flexible panel of disorders, 2) determine disease incidence in an ethnically diverse population, and 3) assess the impact of early diagnosis on health outcomes. Over a five-year period, ScreenPlus aims to screen 175,000 infants born in nine high birthrate, ethnically diverse pilot hospitals in New York for a flexible panel of 14 rare genetic disorders. This study will also involve an evaluation of the Ethical, Legal and Social issues pertaining to NBS for complex disorders, which will be done via online surveys that will be directed towards ScreenPlus parents who opt to participate and qualitative interviews with families of infants who are identified through ScreenPlus.
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.
The treatment of cerebrotendinous xanthomatosis an in born error of bile acid synthesis with chenodeoxycholic acid. Patients with this disease over produce cholestanol and bile acid precursors because of the block in synthesis. Replacement with chenodeoxycholic acid shut down abnormal pathway and reduces elevated level of cholestanol and improves the clinical syndrome.
OBJECTIVES: I. Assess the biosynthesis of cholesterol and cholestanol, and measure the turnover of individual sterols and bile acids in patients with cerebrotendinous xanthomatosis before and after a cholesterol- and cholestanol-free diet. II. Assess the biosynthesis of cholesterol and cholestanol, and measure the turnover of individual sterols and bile acids in these patients before and after lovastatin and chenodeoxycholic acid.