Ignite Creation Date:
2024-05-06 @ 12:23 AM
Last Modification Date:
2024-10-26 @ 10:49 AM
Study NCT ID:
NCT01565005
Status:
COMPLETED
Last Update Posted:
2018-03-02
First Post:
2012-02-29
Brief Title:
Microcephaly Genetic Deficiency in Neural Progenitors
Sponsor:
Assistance Publique - Hôpitaux de Paris
Organization:
Assistance Publique - Hôpitaux de Paris
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 12
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 15Tesla 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 12
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 15Tesla Neuropsychological assessment will be performed Wechsler scales for patients and control subjects
Study Oversight
Has Oversight DMC:
None
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?:
None