Ignite Creation Date:
2025-12-25 @ 3:19 AM
Ignite Modification Date:
2026-03-02 @ 10:05 PM
Study NCT ID:
NCT01565005
Status:
COMPLETED
Last Update Posted:
2018-03-02
First Post:
2012-02-29
Is NOT Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Microcephaly Genetic Deficiency in Neural Progenitors
Sponsor:
Assistance Publique - Hôpitaux de Paris
Organization:
Study Overview
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
Status Verified Date:
2018-02
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
MICROFANC
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
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.
* 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 Oversight
Has Oversight DMC:
False
Is a FDA Regulated Drug?:
None
Is a FDA Regulated Device?:
None
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?: