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Clinical Trial Details — Status: Completed

Administrative data

NCT number NCT01565005
Other study ID # P 100128
Secondary ID
Status Completed
Phase N/A
First received February 29, 2012
Last updated March 1, 2018
Start date October 2013
Est. completion date December 2017

Study information

Verified date February 2018
Source Assistance Publique - Hôpitaux de Paris
Contact n/a
Is FDA regulated No
Health authority
Study type Observational

Clinical Trial 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


Description:

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Study Design


Related Conditions & MeSH terms


Locations

Country Name City State
France Robert Debre Hospital Paris

Sponsors (1)

Lead Sponsor Collaborator
Assistance Publique - Hôpitaux de Paris

Country where clinical trial is conducted

France, 

Outcome

Type Measure Description Time frame Safety issue
Primary Compare neuroradiological phenotype and cognitive functioning with other MCPH-related patients 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)
3 years
Secondary Establish a clear organizational chart for the diagnosis of primary microcephaly 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
3 years
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