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Clinical Characterization of Frequent Monogenic Forms of Neurodevelopmental Disorders

NCT04979182 · Status: UNKNOWN · Type: OBSERVATIONAL · Enrollment: 30

Last updated 2021-07-28

No results posted yet for this study

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))

Conditions

  • Neurodevelopmental Disorders

Sponsors & Collaborators

  • University Hospital, Strasbourg, France

    lead OTHER

Principal Investigators

  • Amélie PITON, MD · Service de Génétique Moléculaire Hôpitaux Universitaires de Strasbourg

Eligibility

Min Age
4 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2021-05-15
Primary Completion
2024-03-31
Completion
2024-05-31

Countries

  • France

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT04979182 on ClinicalTrials.gov