Clinical Characterization of Frequent Monogenic Forms of Neurodevelopmental Disorders

NCT04979182 | Unknown

• 1 other identifier: 8209
• Study Type: observational
• Target: 30
• Locations: 1 country
• Sites: 1

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))

Conditions

Neurodevelopmental Disorders

Keywords

Neurodevelopmental disorders; Rare disease; Genetic Diseases; Monogenic syndromes; Intellectual Disability; Autism spectrum disorder; Neurobehavioral Manifestations

Outcome Measures

Primary Outcomes (1)

• 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]

Eligibility Criteria

• Age: 4 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Patient treated for TND linked to a mutation in one of the genes frequently mutated in this pathology, such as the DYRK1A, KMT2A or other genes

You may qualify if:

• 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.

You may not qualify if:

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

Sponsors & Collaborators

• University Hospital, Strasbourg, France: lead

Study Sites (1)

Service de Génétique Moléculaire Hôpitaux Universitaires de Strasbourg

Strasbourg, 67091, France

RECRUITING

MeSH Terms

Conditions

Neurodevelopmental Disorders; Rare Diseases; Genetic Diseases, Inborn; Intellectual Disability; Autism Spectrum Disorder; Neurobehavioral Manifestations

Condition Hierarchy (Ancestors)

Mental Disorders; Disease Attributes; Pathologic Processes; Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neurologic Manifestations; Nervous System Diseases; Signs and Symptoms; Child Development Disorders, Pervasive

Study Officials

• Amélie PITON, MD

  Service de Génétique Moléculaire Hôpitaux Universitaires de Strasbourg

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Amélie PITON, MD

CONTACT

33 3 69 55 16 52; amelie.piton@chru-strasbourg.fr

Saïd CHAYER, PhD, HDR

CONTACT

33 3 88 11 66 90; said.chayer@chru-strasbourg.fr

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: RETROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: July 16, 2021
• First Posted: July 28, 2021
• Study Start: May 15, 2021
• Primary Completion: March 1, 2024
• Study Completion: May 1, 2024
• Last Updated: July 28, 2021

Record last verified: 2021-04

Locations

FR (1)