Second Molecular Event Identification by Exome Sequencing for Intellectually Disabled Patients Carrying 16p13.11 CNVs

Status

UNKNOWN

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT03644797

Acronym

SEESIC

Enrollment

Registered

2018-08-23

Start date

2018-09-30

Completion date

2019-03-31

Last updated

2018-08-23

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Intellectual Disability

Brief 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.

Interventions

GENETICExome sequencing

Detection of a second (likely) pathogenic molecular event on exome data for intellectual disability beyond the 16p13.11 Copy Number Variant.

Study design

Observational model

COHORT

Time perspective

RETROSPECTIVE

Eligibility

Sex/Gender

ALL

Healthy volunteers

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

Design outcomes

Primary

Measure	Time frame	Description
Second pathogenic molecular event on exome data	4 months	Number of participants diagnosed as carrier of a (likely) pathogenic variation beyond 16p13.11 CNV through exome sequencing according to ACMG 2015 guidelines

Countries

France

Contacts

Primary ContactNicolas CHATRON, MD

nicolas.chatron@chu-lyon.fr0472129697

Outcome results

None listed

Source: ClinicalTrials.gov · Data processed: Feb 4, 2026