Microcephaly Genetic Deficiency in Neural Progenitors: Genotyping, Phenotyping and Functional Neuro-anatomy and Neurobiology Comparative Primitive Microcephaly (MCPH) and the Fanconi Anemia (FA)
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 98
- 试验地点
- 1
- 主要终点
- Compare neuroradiological phenotype and cognitive functioning with other MCPH-related patients
研究概览
简要总结
The purpose of this study is to:
I. Compare neuroradiological phenotype and cognitive functioning of MCPH patients caused by ASPM mutations already characterized and published (Passemard et al. 2009a) with other MCPH-related patients (patients with MCPH1, WDR62, CDK5RAP2, CEP 152, CENPJ, STIL, or PCNT mutations)
II. Describe the neuro-radiological and cognitive phenotype of microcephalic patients suffering from Fanconi anemia, and compared them to subjects with:
- Fanconi anemia but normal OFC (head circumference)
- MCPH patients
- Healthy control subjects Our hypothesis is that mutations in genes responsible of microcephaly impact differentially cortical brain development and functioning
详细描述
Phenotyping study on 2 different cohorts of rare disease affected patients:
- Group1: MCPH (including different MCPH subtypes)
- Group2: Fanconi Anemia (with or without microcephaly)
Inclusion criteria:
Common to each group:
- Age > 3 years
- Access to french "Social Security"
- No contraindication for MRI
研究设计
- 研究类型
- Observational
- 观察模型
- Case Control
- 时间视角
- Prospective
入排标准
- 年龄范围
- 3 Years 至 —（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Patients aged ≥ 3 years:
- •Microcephalic phenotype consistent with MCPH (recruitment already done as part of a network GIS-Rare Diseases Institute). MCPH patients have already been selected in the cohort "Robert Debré."
- •Holders of a Fanconi anemia characterized in terms of cytogenetics, enzyme and/or molecular (patients in the cohort "Saint Louis" followed by the KRC rare aplastic anemia)
- •Healthy controls aged ≥ 5 years siblings of patients with Fanconi Anemia
排除标准
- •Patients with Fanconi anemia:
- •bone marrow < 3 years
- •Post-transplantation neurological complications
- •developmental, genetic or environmental additional pathology
结局指标
主要结局
Compare neuroradiological phenotype and cognitive functioning with other MCPH-related patients
时间窗: 3 years
The purpose of this study is to: Compare neuroradiological phenotype and cognitive functioning of MCPH patients caused by ASPM mutations already characterized and published (Passemard et al. 2009a) with other MCPH-related patients (patients with MCPH1, WDR62, CDK5RAP2, CEP 152, CENPJ, STIL, or PCNT mutations)
次要结局
- Establish a clear organizational chart for the diagnosis of primary microcephaly(3 years)