Trials / Unknown
UnknownNCT03644797
Second Molecular Event Identification by Exome Sequencing for Intellectually Disabled Patients Carrying 16p13.11 CNVs
- Status
- Unknown
- Phase
- —
- Study type
- Observational
- Enrollment
- 18 (estimated)
- Sponsor
- Hospices Civils de Lyon · Academic / Other
- Sex
- All
- Age
- —
- Healthy volunteers
- Not accepted
Summary
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.
Conditions
Interventions
| Type | Name | Description |
|---|---|---|
| GENETIC | Exome sequencing | Detection of a second (likely) pathogenic molecular event on exome data for intellectual disability beyond the 16p13.11 Copy Number Variant. |
Timeline
- Start date
- 2018-09-01
- Primary completion
- 2018-12-01
- Completion
- 2019-03-01
- First posted
- 2018-08-23
- Last updated
- 2018-08-23
Locations
1 site across 1 country: France
Source: ClinicalTrials.gov record NCT03644797. Inclusion in this directory is not an endorsement.