Functional Study to Indentify Genetic Etiology of Rare Diseases - ORIGIN
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 发起方
- 入组人数
- 1,200
- 试验地点
- 2
- 主要终点
- Identification of at least 80 new genes implicated in rare diseases via high-throughput sequencing technics and through functional studies.
研究概览
简要总结
Next generation sequencing (NGS) allows some better diagnostic results, particularly, in the rare diseases field. At a twenty five percent rate, those exams highlight some variants which are not yet described in human pathology. The relationship between a variant found inside a candidate gene and a pathology, is able to be confirmed by functional studies at a protein level. This study aims to build a biological collection to feed further functional studies to confirm the relationship between NGS identified variants, and the clinical signs and symptoms.
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
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Child or adult affected by a rare disease whose molecular functions are not known, or whose pathophysiologic mechanism are not fully understood.
- •Patient included inside the BaMaRa (French rare disease national data bank) database dedicated to the rare diseases.
- •Patient Affiliated to the French social security system.
- •Patient consent form or legal representative consent form obtained.
- •Patient's parent :
- •Parent of a patient affected by a rare disease whose molecular functions are not known, or whose pathophysiologic mechanism are not fully understood.
- •Parent included in the BaMaRa database.
- •Parent affiliated to the French social security system.
- •Parent consent form obtained for himself/herself.
- •Patient's brother or sister :
- •Brother or sister of a patient (underage or adult) affected by a rare disease whose molecular functions are not known, or whose pathophysiologic mechanism are not fully understood.
- •Brother or sister included in the BaMaRa database.
- •Brother or sister affiliated to the French social security system.
- •Brother or sister consent form obtained for themselves or from their legal representative.
排除标准
- •Poor understanding of the French language
- •Legal of administrative liberty deprivation
- •Psychiatric force care
研究组 & 干预措施
Study Arm
Specific interventions:
Blood samples, skin biopsy, urine collection or operational waste qualified as research sample.
干预措施: Skin biopsy, blood sample, urine sample (Procedure)
结局指标
主要结局
Identification of at least 80 new genes implicated in rare diseases via high-throughput sequencing technics and through functional studies.
时间窗: 23 years
Candidate genes, suspected to be responsible for rare diseases will be identified before the inclusion, during standard medical care, by exome or genome sequencing.
Collecting biological samples to build up a biobank
时间窗: 23 years
After a candidat gene identification, patient will be proposed sampling (blood or urine) or if a skin biopsy, an amniotic fluid puncture or any surgery are done during standard care, the remaing tissue or fluid, or operative wastes will be eligible too, to be stored in the biobank.
Candidat gene validation through functional studies.
时间窗: 23 years
Biological samples from the biobank will be made available after the study, to some specialized research teams, in order to validate or overturn those previously gene candidates by the way of some biological technics.
次要结局
未报告次要终点