Clinical Characterization of Frequent Monogenic Forms of Neurodevelopmental Disorders

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

Status

UNKNOWN

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT04979182

Acronym

MONOGENETND

Enrollment

Registered

2021-07-28

Start date

2021-05-15

Completion date

2024-05-31

Last updated

2021-07-28

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Neurodevelopmental Disorders

Keywords

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

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))

Interventions

None listed

Study design

Observational model

CASE_ONLY

Time perspective

RETROSPECTIVE

Eligibility

Sex/Gender

ALL

Age

4 Years to No maximum

Healthy volunteers

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.

Design outcomes

Primary

Measure	Time frame
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]

Countries

France

Contacts

Primary ContactAmélie PITON, MD

amelie.piton@chru-strasbourg.fr33 3 69 55 16 52

Backup ContactSaïd CHAYER, PhD, HDR

said.chayer@chru-strasbourg.fr33 3 88 11 66 90

Outcome results