Clinical Characterization of Frequent Monogenic Forms of Neurodevelopmental Disorders

Neurodevelopmental Disorders Clinical Trial

— MONOGENETND  

Official title:

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

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT04979182
• Other study ID #: 8209
• Status: Recruiting
• Start date: May 15, 2021
• Est. completion date: May 2024

Study information

• Verified date: April 2021
• Source: University Hospital, Strasbourg, France
• Contact: Amélie PITON, MD
• Phone: 33 3 69 55 16 52
• Email: amelie.piton[@]chru-strasbourg.fr
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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))

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 30
• Est. completion date: May 2024
• Est. primary completion date: March 2024
• Accepts healthy volunteers: No
• Gender: All
• Age group: 4 Years and older

Eligibility

Inclusion criteria:

• Minor patient whose age is = 4 years and =18 years
• Major patient with intellectual disability
• Patient treated in a participating center for TND linked to a mutation in one of the genes frequently mutated in this pathology, such as the DYRK1A, KMT2A or other genes;
• Patient having previously been seen in genetic consultation
• Parent (or legal guardian) not having expressed, after information, his opposition to the reuse of his data for the purposes of this research.

Exclusion criteria:

• Parent (or legal guardian) who expressed his opposition to participating in the study.

Related Conditions & MeSH terms

• Disease
• Neurodevelopmental Disorders

Locations

Country	Name	City	State
France	Service de Génétique Moléculaire Hôpitaux Universitaires de Strasbourg	Strasbourg

Sponsors (1)

Lead Sponsor	Collaborator
University Hospital, Strasbourg, France

Country where clinical trial is conducted

France, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	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]