Microcephaly Genetic Deficiency in Neural Progenitors — MICROFANC  

Microcephaly Clinical Trial

Official title: 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

Clinical Trial 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

Clinical Trial 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. ;

Related Conditions & MeSH terms

• Fanconi Anemia
• Microcephaly

• NCT number: NCT01565005
• Study type: Observational
• Source: Assistance Publique - Hôpitaux de Paris
• Status: Completed
• Phase: N/A
• Start date: October 2013
• Completion date: December 2017