Rare and Atypical Diabetes Network
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 2,000
- 试验地点
- 13
- 主要终点
- Phenotypic and genotypic characterization of previously unknown forms of diabetes using Whole Genome Sequencing (WGS), and deeper phenotyping methods
研究概览
简要总结
RADIANT is a network of 14 clinical sites and several laboratories dedicated to the study of atypical diabetes.
The objective of this study is to define new forms of diabetes and the unique mechanisms underlying these forms of atypical diabetes. The specific aims are to:
- Identify and enroll individuals and families with undiagnosed rare and atypical forms of diabetes.
- Determine the etiologic basis of the metabolic disorder among individuals and families with novel forms of rare and atypical diabetes.
- Understand the pathophysiology of individuals and families with novel forms of rare and atypical forms of diabetes.
详细描述
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 atypical 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:
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Prospective
入排标准
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •The following criteria or phenotypes will be considered for suspecting "atypical" participants:
- •Type 2 diabetes diagnosed at a time when the individual was prepubertal or non-obese
- •Mendelian pattern, especially with early onset (<18 years old)
- •Syndromic (multiple systems involved)
- •Lipodystrophic
- •Extremes of BMI
- •"Mitochondrial" characteristics (e.g., myopathy, hearing deficits)
- •Non-progressive
- •Rapidly progressive ("fulminant")
- •Low insulin requirements (<0.5 u/kg/day)
- •Cyclical hyperglycemia with periods of remission
- •Lean persons with polycystic ovarian syndrome (PCOS)
- •History of gestational diabetes (GDM) when lean
- •Lean insulin-resistant persons
- •If islet autoantibodies and beta-cell function parameters have been measured (where "A" = islet cell autoantibodies, "B" = beta-cell function):
- •oA-B- (i.e., lacking islet autoimmunity makers and lacking beta cell function) oA-B+ with unprovoked DKA at initial presentation (i.e., lacking islet autoimmune markers, with preserved beta-cell function, but presenting with unprovoked DKA) oA-B+ of very young onset (pre-pubertal) (i.e., lacking islet autoimmune markers, with preserved beta-cell function, but very early onset T2D-like phenotype)
排除标准
- •Those with high likelihood of typical type 1, typical type 2, known monogenic, or other known secondary forms of diabetes
- •Refusal of consent for genetic testing
- •Islet autoantibody positive (participants who are islet autoantibody positive but present with additional atypical features i.e. syndromic, strong linear family history of diabetes may not be excluded)
- •Women who are currently pregnant
结局指标
主要结局
Phenotypic and genotypic characterization of previously unknown forms of diabetes using Whole Genome Sequencing (WGS), and deeper phenotyping methods
时间窗: Through study completion, an average of 3 years.
Deeper phenotyping methods include both clinical and laboratory assessments. Clinical data includes anthropometric and biometric data, medical histories, and standard questionnaires (ASA24, PROMIS, environmental exposures depression and anxiety). Laboratory data includes WGS, transcriptomics, metabolomics, mitochondrial sequencing, Oral Glucose Tolerance Test (OGTT), and Islet autoantibodies. Clustering methods will be used to define cohorts of similar diabetes genotypes and phenotypes based on this data.
次要结局
未报告次要终点