NCT04979182

Clinical Characterization of Frequent Monogenic Forms of Neurodevelopmental Disorders

Somatic and Neurobehavioral Clinical Characterization of Frequent Monogenic Forms of Neurodevelopmental Disorders

• Status: Unknown
• Phase: —
• Study type: Observational
• Enrollment: 30 (estimated)
• Sponsor: University Hospital, Strasbourg, France · Academic / Other
• Sex: All
• Age: 4 Years
• Healthy volunteers: Not accepted

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

Timeline

• Start date: 2021-05-15
• Primary completion: 2024-03-01
• Completion: 2024-05-01
• First posted: 2021-07-28
• Last updated: 2021-07-28

Locations

1 site across 1 country: France