NCT05945576招募中不适用
National Cohort on Imprinting Disorders and Their Metabolic Consequences
Institut National de la Santé Et de la Recherche Médicale, France19 个研究点 分布在 1 个国家目标入组 2,000 人开始时间: 2017年3月10日最近更新:
适应症
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 发起方
- 入组人数
- 2,000
- 试验地点
- 19
- 主要终点
- The biological characteristics of IDs in pediatric and adult's patients.
研究概览
简要总结
The goal of this observational study is to describe the natural history of imprinting disorders (IDs) according to their metabolic profile in all patients (adults and children) affected with an ID regardless of the severity of the disease, with a molecular characterization, with a signed informed consent for all subjects, followed in one partner's center.
The main questions it aims to answer are:
- Can we identify common metabolic profiles for all imprinted diseases?
- Which imprinting disorders have an impact on the metabolic profiles of IDs?
- Which are the metabolic risks associated to IDs?
- Can we use the metabolic profiles for the clinical classification and prognosis of IDs?
- Are there common therapeutic approaches for all IDs?
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Other
入排标准
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Patients (adults and children) affected with an ID regardless of the severity of the disease
- •A confirmed diagnosis of ID (based on molecular diagnosis)
- •A signed informed consent for adults or signed informed consent of parents/guardians of minors/ protected adult.
- •Non-Inclusion Criteria:
- •There are no non-inclusion criteria.
排除标准
- 未提供
结局指标
主要结局
The biological characteristics of IDs in pediatric and adult's patients.
时间窗: Through study completion, an average of 10 years
The clinical characteristics of IDs in pediatric and adult's patients.
时间窗: Through study completion, an average of 10 years
The genetic characteristics of IDs in pediatric and adult's patients.
时间窗: Through study completion, an average of 10 years
The morphometric characteristics of IDs in pediatric and adult's patients.
时间窗: Through study completion, an average of 10 years
次要结局
- Determination of the prevalence of metabolic abnormalities (MA).(At inclusion)
- Search for an association between the metabolic phenotype of IDs patients' and their biological profil.(At the time of diagnosis (or at first measurement))
- Estimation of the risk for metabolic complications such as obesity, diabetes, cardiovascular disease (CVD), metabolic syndrome.(10 years after)
- Description of different therapeutic approaches and identification of a common base for all IDs.(Through study completion, an average of 10 years)
- Variations of quality-of-life scores.(Through study completion, an average of 10 years)
- Analyse of (epi)genetic mutations transmission in proband and relatives.(Through study completion, an average of 10 years)
研究者
研究点 (19)
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