Blood Spot and Urine Metabolomic Screening Applied to Rare Diseases
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 发起方
- 入组人数
- 2,286
- 试验地点
- 8
- 主要终点
- Uncover new biomarkers in dried blood spots and urines samples able to improve the diagnosis of rare diseases
研究概览
简要总结
The primary goal of this study is to establish a biobank of dried blood spots and urines from a large control cohort and collect several cohorts as large as possible of patients affected or suspected of being affected by rare diseases (mainly hereditary metabolic diseases) or by autism spectrum disorders.
A metabolomic database using a high-resolution mass spectrometer (i.e. the "Device") will be generated and specific biomarkers for the diseases will be confirmed or uncovered. The ultimate goal is to facilitate and improve the diagnosis and screening of the patients affected by these disorders, but also to improve the knowledge about the biochemical mechanisms involved over the course of the selected pathologies.
High-resolution mass spectrometry allows the measurement of thousands of metabolites in a single analysis. The current biochemical tests used for the diagnosis of hereditary metabolic diseases are only using a combination of maximum a few dozens of biomarkers in one analysis.
Objectives Unravel new biomarkers for diagnosis (+/- explore the altered pathways…) Uncover and/or validate newborn screening biomarkers through retrospective analysis of preserved newborn DBS from confirmed patients (useful for first or second tier biochemical NBS testing!) Validation of LC-MS qTOF for metabolomics screening as first line diagnostic test (thousands of metabolites) using diagnostic algorithms (modified z-scores) & continuous optimization by adding new cases and new controls in the database Generation of a biobank of urines and DBS from rare diseases (IEMs) & from a large reference population useful for other research applications
详细描述
DESIGN OF THE CLINICAL INVESTIGATION
Interventional multicenter study using high-resolution mass spectrometry applied to dried blood spots and urine samples, generating metabolomic data.
The study will start by the establishment of a biobank according to group description.
The samples (dried blood spots (DBS) and urine samples for each subject) will be collected in respective co-investigator centers, before being shipped to the central biobank of Cliniques universitaires Saint Luc (CUSL). DBS are allowed to be kept at room temperature (dry and protected from light) if shipped to CUSL within 2 weeks upon sampling.
The sampling procedure, occurring at each co-investigating center will include in the following order:
研究设计
- 研究类型
- Interventional
- 分配方式
- Na
- 干预模型
- Single Group
- 主要目的
- Diagnostic
- 盲法
- None
入排标准
- 年龄范围
- 1 Day 至 99 Years（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •Subjects from newborn to elderly, presumably not affected by a rare disease (Group 1) (Newborns: only residual DBS from newborn screening from full-term newborns and with a negative official newborn screening test, de-identified samples not requiring an ICF, no urine sample for this category), OR
- •Patients from newborn to elderly, affected by a genetic metabolic disease (genetic confirmation is required) or another confirmed rare disease for which a metabolic derangement is suspected (Group 2), OR
- •Patients from newborn to elderly, affected by autism spectrum disorders and evaluated according to the DSMV classification (Group 2), OR
- •Patients suspected of being affected by a genetic metabolic disease or another rare disease with potential metabolic derangement (i.e. for which genetic and/or biochemical test(s) are non-conclusive or in progress) (Group 3)
排除标准
- •Subjects or patients for which the data required for analysis and assignment in the correct subgroup are lacking
- •No informed consent signed
结局指标
主要结局
Uncover new biomarkers in dried blood spots and urines samples able to improve the diagnosis of rare diseases
时间窗: 4 years
Comparison of metabolics data containing thousands of biomarker candidates obtained by LC-MS-qTOF analysis between rare disease cohorts and age-matched control samples
次要结局
未报告次要终点