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Rare and Atypical Diabetes Network

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DataCite Commons2024-12-04 更新2025-04-16 收录
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https://repository.niddk.nih.gov/studies/radiant
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The Rare and Atypical DIAbetes NeTwork (RADIANT) is a multicenter prospective cohort study that is dedicated to characterizing (discovering and defining) rare and atypical forms of diabetes. Individuals will be screened for evaluation of suspected atypical diabetes of unknown origin. Among the pool of evaluated individuals, those found to have a known form of diabetes will be excluded from further study. The remaining participants will be prioritized for genetic/genomic analysis and further testing. RADIANT has three distinct stages. Stage 1: Stage 1 participants will complete a consent form and a questionnaire to determine the potential for having atypical forms of diabetes. Participants identified as potentially having atypical forms of diabetes based on questionnaire responses will be asked to provide a blood sample to test for islet autoantibodies and complete additional questionnaires. The RADIANT Adjudication Committee, which is comprised of a team of experts in diabetes, will assess the data collected in Stage 1 and select and prioritize participants to proceed to Stage 2 and 3 for Whole Genome Sequencing (WGS) and other testing. Stage 2: Stage 2 of the study includes genetic screening for known forms of monogenic diabetes. Participants will consent for this stage of the study, complete a family history questionnaire, and have blood collected for DNA and RNA extraction, storage, and analysis. Whole genome sequencing (WGS) will be performed on all DNA samples. If WGS does not identify a pathogenic/likely pathogenic variant in a known monogenic diabetes gene that is thought to explain the participant's diabetes, RNA Sequencing will be performed at Baylor College of Medicine. Stage 3: Stage 3 of the study includes deeper phenotyping. All participants who proceed to Stage 3 will visit a study clinic to consent and complete Stage 3 procedures which include: an Oral Glucose Tolerance Test (OGTT), additional blood collection, a detailed physical exam, and additional questionnaires. Discovery Team Review: The work of the Discovery Team is expected to be an iterative process analyzing all data collected up to this point in the study to understand the significance of novel variants. In some instances, the Discovery Team may determine that enrollment of the Proband's family members is necessary. Family members with suspected atypical diabetes will follow the same study procedures as described above. Affected and unaffected family members may also be enrolled for Sanger Sequencing or trio WGS. The Discovery Team may also recommend additional optional procedures to better characterize the participant's form of diabetes.
提供机构:
NIDDK Central Repository
创建时间:
2024-12-03
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