Microcephaly Genetic Deficiency in Neural Progenitors (MICROFANC)
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ClinicalTrials.gov Identifier: NCT01565005 |
Recruitment Status
:
Completed
First Posted
: March 28, 2012
Last Update Posted
: March 2, 2018
|
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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
Condition or disease |
---|
Microcephaly |
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:
- Description of neurological, neuropsychological and radiological phenotype for each group
-
Phenotype comparison:
- groups 1&2
- group1 or 2 with control subjects
- different MCPH subtypes within group1
- with or without microcephaly within group2
- 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 Type : | Observational |
Actual Enrollment : | 98 participants |
Observational Model: | Case-Control |
Time Perspective: | Prospective |
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) |
Actual Study Start Date : | October 2013 |
Actual Primary Completion Date : | December 2017 |
Actual Study Completion Date : | December 2017 |

Group/Cohort |
---|
Microcephaly
Microcephaly Intellectual abilities Cranial MRI
|
FANCONI ANEMIA |
- Compare neuroradiological phenotype and cognitive functioning with other MCPH-related patients [ Time Frame: 3 years ]
The purpose of this study is to:
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)
- Establish a clear organizational chart for the diagnosis of primary microcephaly [ Time Frame: 3 years ]
I. Establish a clear organizational chart for the diagnosis of primary microcephaly from the detailed description of the patient's phenotype
II. Establish epidemiological data on the molecular genetic causes involved in human primary microcephaly

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Ages Eligible for Study: | 3 Years and older (Child, Adult, Senior) |
Sexes Eligible for Study: | All |
Accepts Healthy Volunteers: | No |
Sampling Method: | Non-Probability Sample |
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 mitomycine Mutation in one FANC gene
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

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT01565005
France | |
Robert Debre Hospital | |
Paris, France, 75019 |
Principal Investigator: | Alain VERLOES, PU-PH | Assistance Publique - Hôpitaux de Parsi |
Responsible Party: | Assistance Publique - Hôpitaux de Paris |
ClinicalTrials.gov Identifier: | NCT01565005 History of Changes |
Other Study ID Numbers: |
P 100128 |
First Posted: | March 28, 2012 Key Record Dates |
Last Update Posted: | March 2, 2018 |
Last Verified: | February 2018 |
Keywords provided by Assistance Publique - Hôpitaux de Paris:
MCPH FANCONI ANEMIA |
Additional relevant MeSH terms:
Fanconi Anemia Microcephaly Anemia, Hypoplastic, Congenital Anemia, Aplastic Anemia Hematologic Diseases Bone Marrow Diseases Genetic Diseases, Inborn DNA Repair-Deficiency Disorders |
Metabolic Diseases Craniofacial Abnormalities Musculoskeletal Abnormalities Musculoskeletal Diseases Malformations of Cortical Development, Group I Malformations of Cortical Development Nervous System Malformations Nervous System Diseases Congenital Abnormalities |