Corpus Callosum Agenesis and Intellectual Disability

NCT02167568 | Completed

• 1 other identifier: P081260
• Study Type: observational
• Target: 360
• Locations: 1 country
• Sites: 1

Brief 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

Keywords

corpus callosum agenesis/dysgenesis; mental deficiency/ Intellectual deficiency; genetic and phenotypic characterization

Outcome Measures

Primary Outcomes (1)

• genetic abnormalities

  baseline

Study Arms (2)

Corpus callosum agenesis/dysgenesis

patients with Corpus callosum agenesis/dysgenesis

Genetic: Genetic

parents

parents of patients with corpus callosum agenesis/dysgenesis

Genetic: Genetic

Interventions

Genetic GENETIC

Corpus callosum agenesis/dysgenesis; parents

Eligibility Criteria

• Age: 3 Months+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

patient with corpus callosum agenesis (complete or partial) or dysgenesis associated to mental retardation recruted through pediatric neurology and genetics consultations in the reference and competence centers " intellectual disabilities of rare cause" and associated network called "DéfiSciences".

You may qualify if:

• age \> 3 months
• patient with mental retardation
• patient with corpus callosum agenesis (complete or partial) or dysgenesis

You may not qualify if:

• Patient with corpus callosum agenesis or dysgenesis but without mental retardation
• Patient with mental retardation but with total callosum corpus(cc)
• Patient with corpus callosum agenesis or dysgenesis and mental retardation whose origin is acquired
• Patient does not wish to participate, or whose parents / guardians refuse their participation
• Patient in whom brain MRI cannot be performed
• Patient not affiliated to a social security system (or beneficiaries who right) or CMU

Sponsors & Collaborators

• Assistance Publique - Hôpitaux de Paris: lead

Study Sites (1)

Groupe Hospitalier Pitié-Salpêtrière

Paris, 75013, France

Location

Biospecimen

Retention: SAMPLES WITH DNA

blood sample

MeSH Terms

Conditions

Agenesis of Corpus Callosum; Congenital Abnormalities

Condition Hierarchy (Ancestors)

Nervous System Malformations; Nervous System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Anatomical; Pathological Conditions, Signs and Symptoms

Study Officials

• Delphine HERON, MD

  Assistance Publique - Hôpitaux de Paris

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: June 13, 2014
• First Posted: June 19, 2014
• Study Start: January 1, 2012
• Primary Completion: June 1, 2014
• Study Completion: June 1, 2014
• Last Updated: June 19, 2014

Record last verified: 2014-06

Locations

FR (1)