Microcephaly Genetic Deficiency in Neural Progenitors

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Total Enrollment

98 participants

Study Classification

OBSERVATIONAL

Study Start Date

2013-10-31

Study Completion Date

2017-12-31

Brief Summary

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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

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Detailed Description

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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

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Microcephaly

Study Design

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Observational Model Type

CASE_CONTROL

Study Time Perspective

PROSPECTIVE

Study Groups

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Microcephaly

Microcephaly Intellectual abilities Cranial MRI

No interventions assigned to this group

FANCONI ANEMIA

No interventions assigned to this group

Eligibility Criteria

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Inclusion Criteria

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

Exclusion Criteria

Patients with Fanconi anemia:

* bone marrow \< 3 years
* Post-transplantation neurological complications
* developmental, genetic or environmental additional pathology

Minimum Eligible Age

3 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No