Description Module
The Description Module contains narrative descriptions of the clinical trial, including a brief summary and detailed description. These descriptions provide important information about the study's purpose, methodology, and key details in language accessible to both researchers and the general public.
Description Module path is as follows:
Study -> Protocol Section -> Description Module
Description Module
Ignite Creation Date:
2025-12-25 @ 3:19 AM
Ignite Modification Date:
2025-12-25 @ 3:19 AM
NCT ID:
NCT01565005
Brief 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.
Study:
NCT01565005
Study Brief:
Protocol Section:
NCT01565005