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Microcephaly Genetic Deficiency in Neural Progenitors

NCT01565005 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 98

Last updated 2018-03-02

No results posted yet for this study

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

Conditions

  • Microcephaly

Sponsors & Collaborators

  • Assistance Publique - Hôpitaux de Paris

    lead OTHER

Principal Investigators

  • Alain VERLOES, PU-PH · Assistance Publique - Hôpitaux de Parsi

Eligibility

Min Age
3 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2013-10-31
Primary Completion
2017-12-31
Completion
2017-12-31

Countries

  • France

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT01565005 on ClinicalTrials.gov