MedTrace Logo

Corpus Callosum Agenesis and Intellectual Disability

NCT02167568 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 360

Last updated 2014-06-19

No results posted yet for this study

Summary

Corpus callosum agenesis or dysgenesis (CCA) is a major brain malformation (˜1/4000 births) presently diagnosed by prenatal ultrasonography. In about half of the cases, CCA is associated with other anomalies (complex CCA), which usually leads to medical abortion. Syndromes including a CCA are many (hundreds), most of which are also associated with intellectual deficiency (ID). Several genes are involved in such complex CCA. On the other hand, several studies pointed to the favorable cognitive outcome of individuals/fetuses with an apparently isolated CCA (ICCA) during pregnancy in about 70% of cases. However, there are still 30% of cases with ID or developmental delay. The precise incidence and severity of these disorders are presently unclear. Therefore, prenatal counseling of couples facing a prenatal diagnosis of ICCA is still elusive.

Our aims are to unravel the genetic causes of CCA by combining phenotypic and genetic analyses in a prospective cohort of patients with CCA and intellectual disability, in order to improve prenatal information.

Conditions

  • Intellectual Deficiency
  • Cerebral Abnormality

Interventions

GENETIC

Genetic

Sponsors & Collaborators

  • Assistance Publique - Hôpitaux de Paris

    lead OTHER

Principal Investigators

  • Delphine HERON, MD · Assistance Publique - Hôpitaux de Paris

Eligibility

Min Age
3 Months
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2012-01-31
Primary Completion
2014-06-30
Completion
2014-06-30

Countries

  • France

Study Locations

More Related Trials

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 NCT02167568 on ClinicalTrials.gov