NCT01565005

Microcephaly Genetic Deficiency in Neural Progenitors

Microcephaly Genetic Deficiency in Neural Progenitors: Genotyping, Phenotyping and Functional Neuro-anatomy and Neurobiology Comparative Primitive Microcephaly (MCPH) and the Fanconi Anemia (FA)

• Status: Completed
• Phase: —
• Study type: Observational
• Enrollment: 98 (actual)
• Sponsor: Assistance Publique - Hôpitaux de Paris · Academic / Other
• Sex: All
• Age: 3 Years
• Healthy volunteers: Not accepted

Summary

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

Detailed description

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 Group1: * Primary microcephaly without gross malformation within or extra nervous central system * OFC \< -2SD at birth and \< -3 SD after age 6months * Mutation in one MCPH gene Group2: Proven Fanconi Anemia with: * Positive chromosome breakage blood test * One of the 3 following elements: FANCD2 positive test Fibroblast sensitivity to mitomycin Mutation in one FANC gene Control subjects: * No antecedent * Normal education Aims: 1. Description of neurological, neuropsychological and radiological phenotype for each group 2. Phenotype comparison: * groups 1\&2 * group1 or 2 with control subjects * different MCPH subtypes within group1 * with or without microcephaly within group2 3. Epidemiological data on these rare diseases in our population Protocol: Patients from both groups and control subjects will be evaluated in CIC for 1 day ½. They will be examined by a child neurologist and a geneticist. All of them will have cranial MRI (1.5Tesla). Neuropsychological assessment will be performed (Wechsler scales) for patients and control subjects.

Conditions

• Microcephaly

Timeline

• Start date: 2013-10-01
• Primary completion: 2017-12-01
• Completion: 2017-12-01
• First posted: 2012-03-28
• Last updated: 2018-03-02

Locations

1 site across 1 country: France