Intellectual Disability Clinical Trial
— SEESICOfficial title:
Second Molecular Event Identification by Exome Sequencing for Intellectually Disabled Patients Carrying 16p13.11 CNVs
16p13.11 copy number variations are considered as predisposition factors for neurodevelopmental disorders but can be inherited from normal parents. SEESIC aims at identifying seond molecular events by exome sequencing that could modulate the phenotype and explain familial discrepancies.
Status | Not yet recruiting |
Enrollment | 18 |
Est. completion date | March 2019 |
Est. primary completion date | December 2018 |
Accepts healthy volunteers | No |
Gender | All |
Age group | N/A and older |
Eligibility |
Inclusion Criteria: - Patients presenting intellectual disability - Patients carrying a 16p13.11 copy number variant - Blood DNA available without re sampling for the patient and his parents. - Consent for genetics analysis already for the patient and his parents. Exclusion Criteria: - Other diagnosis for intellectual disability (apart 16p13.11 copy number variant) already posed |
Country | Name | City | State |
---|---|---|---|
France | Hôpital Femme Mère Enfant (Groupement Hospitalier Est) | Bron |
Lead Sponsor | Collaborator |
---|---|
Hospices Civils de Lyon |
France,
Type | Measure | Description | Time frame | Safety issue |
---|---|---|---|---|
Primary | Second pathogenic molecular event on exome data | Number of participants diagnosed as carrier of a (likely) pathogenic variation beyond 16p13.11 CNV through exome sequencing according to ACMG 2015 guidelines | 4 months |
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