Clinical Characterization of Frequent Monogenic Forms of Neurodevelopmental Disorders

• Conditions: Neurodevelopmental Disorders

• Registration Number: NCT04979182
• Lead Sponsor: University Hospital, Strasbourg, France

Brief Summary

The main objective is to constitute a precise and exhaustive collection of clinical data (somatic and neurobehavioral data) of individuals affected by various frequent monogenic forms of neurodevelopmental disorders to better characterize the clinical phenotype of these disorders.

A better knowledge of these manifestations is necessary to improve the management of individuals with these disorders.

The secondary objectives of this research are to inform practitioners, patients and their families about the clinical characteristics of these disorders to better understand their diversity and, finally, to improve their screening and diagnosis. Thus, our study aims at establishing clinical scores, linking genotypes and phenotypes and producing documents for professionals (such as the PNDS (National Diagnostic and Care Protocols))

Detailed Description

Not available

Study Timeline

• Status Verified: 2021-04
• Study Start: 2021-05-15
• Study First Submitted: 2021-07-16
• Study First Submitted QC: 2021-07-27
• Last Update Submitted: 2021-07-27
• Study First Posted: 2021-07-28
• Last Update Posted: 2021-07-28
• Primary Completion: 2024-03
• Study Completion: 2024-05

Recruitment & Eligibility

• Status: UNKNOWN
• Sex: All
• Target Recruitment: 30

Inclusion Criteria

Not provided

Exclusion Criteria

Not provided

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Study of clinical profiles associated to different monogenic form of NDD	Files analysed retrospectively from January 01, 2015 to March 31, 2020 will be examined]

Trial Locations

Locations (1)

Service de Génétique Moléculaire Hôpitaux Universitaires de Strasbourg; 🇫🇷 Strasbourg, France