Clinical Trials Logo

Xanthomatosis, Cerebrotendinous clinical trials

View clinical trials related to Xanthomatosis, Cerebrotendinous.

Filter by:
  • Enrolling by invitation  
  • Page 1

NCT ID: NCT05368038 Enrolling by invitation - Fabry Disease Clinical Trials

ScreenPlus: A Comprehensive, Flexible, Multi-disorder Newborn Screening Program

ScreenPlus
Start date: May 10, 2021
Phase:
Study type: Observational

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.

NCT ID: NCT04218006 Enrolling by invitation - Clinical trials for Xanthomatosis, Cerebrotendinous

A Study on the Prevalence of Mutation of Cerebrotendinous Xanthomatosis (CTX)

F-GENE
Start date: December 1, 2019
Phase:
Study type: Observational

This is a prospective, non-drug epidemological cohort study aimed to investigate the relatives of these cases with CTX-specific gene mutation and clinical features of CTX disease over CTX index cases diagnosed with CTX disease throughout the clinics in Turkey. Relatives included in the study (relatives of CTX index cases) will be taken into clinical and genetic evaluation. Relatives will not receive any experimental intervention or treatment because of their participation in the study. Therefore, this study does not include a treatment protocol or does not have a predetermined visit flow chart. However, relatives of CTX index cases should give consent to genetic testing.

NCT ID: NCT03655223 Enrolling by invitation - Diabetes Mellitus Clinical Trials

Early Check: Expanded Screening in Newborns

Start date: October 15, 2018
Phase:
Study type: Observational

Early Check provides voluntary screening of newborns for a selected panel of conditions. The study has three main objectives: 1) develop and implement an approach to identify affected infants, 2) address the impact on infants and families who screen positive, and 3) evaluate the Early Check program. The Early Check screening will lead to earlier identification of newborns with rare health conditions in addition to providing important data on the implementation of this model program. Early diagnosis may result in health and development benefits for the newborns. Infants who have newborn screening in North Carolina will be eligible to participate, equating to over 120,000 eligible infants a year. Over 95% of participants are expected to screen negative. Newborns who screen positive and their parents are invited to additional research activities and services. Parents can enroll eligible newborns on the Early Check electronic Research Portal. Screening tests are conducted on residual blood from existing newborn screening dried blood spots. Confirmatory testing is provided free-of-charge for infants who screen positive, and carrier testing is provided to mothers of infants with fragile X. Affected newborns have a physical and developmental evaluation. Their parents have genetic counseling and are invited to participate in surveys and interviews. Ongoing evaluation of the program includes additional parent interviews.