Intellectual Deficiency Clinical Trial
— ACCREMOfficial title:
Corpus Callosum Agenesis and Intellectual Disability: Genetic and Phenotypic Characterization
Verified date | June 2014 |
Source | Assistance Publique - Hôpitaux de Paris |
Contact | n/a |
Is FDA regulated | No |
Health authority | France: Ministry of Health |
Study type | Observational |
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.
Status | Completed |
Enrollment | 360 |
Est. completion date | June 2014 |
Est. primary completion date | June 2014 |
Accepts healthy volunteers | No |
Gender | Both |
Age group | 3 Months and older |
Eligibility |
Inclusion criteria : - age > 3 months - patient with mental retardation - patient with corpus callosum agenesis (complete or partial) or dysgenesis Exclusion criteria : - 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 - Patient with at least one of the two parent's inclusion it not possible |
Observational Model: Cohort, Time Perspective: Prospective
Country | Name | City | State |
---|---|---|---|
France | Groupe Hospitalier Pitié-Salpêtrière | Paris |
Lead Sponsor | Collaborator |
---|---|
Assistance Publique - Hôpitaux de Paris |
France,
Type | Measure | Description | Time frame | Safety issue |
---|---|---|---|---|
Primary | genetic abnormalities | baseline | No |
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