Decoding Developmental Disorders in Humams

NCT06260319 | Completed

• 1 other identifier: C19-64
• Study Type: observational
• Target: 720
• Locations: 1 country
• Sites: 1

Brief Summary

The DEVO-DECODE project aims to align our currently limited knowledge currently limited knowledge of the genetic architecture of developmental with our more advanced knowledge of their "phenome". To this end, we aim to establish a homogeneous cohort of patients with with developmental disorders to identify new genetic variants genetic variants, and thus study the association between developmental and genetic variants. Secondary objectives are:2

• Carry out WGS studies not only to refine exosomal sequencing data exome sequencing data, but above all to identify and validate non-coding non-coding DNA alterations, in both transcribed and non-transcribed transcribed or non-transcribed genomic domains
• Develop precise preclinical models for functional studies of pathophysiological pathways

Conditions

Genetic Diseases

Outcome Measures

Primary Outcomes (1)

• Primary objectives

  Establish a homogeneous cohort of patients with developmental developmental disorders to identify new genetic variants, and thus study the association between developmental pathologies and genetic variants.

  up to 2 years

Secondary Outcomes (2)

• secondary objectives 1

  up to 2 years

• secondary objectives 2

  up to 2 years

Interventions

Whole genome sequencing and Genome-Epigenome-Phenome Associations GENETIC

* Whole genome sequencing (WGS) and bioinformatics analysis * Functional validation * Genome-Epigenome-Phenome Associations

Eligibility Criteria

• Age: 1 Year - 90 Years
• Sex: all
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Pediatric and adult patients with hereditary diseases and related who have consented to the storage of their biological samples biological samples as part of the Institut Imagine's declared biological Institut Imagine, selected on the basis of the following criteria : \- negative preliminary CGH or WES sequencing data

You may qualify if:

• Pediatric and adult patients with hereditary diseases and relatives who have consented to the storage of their biological samples in the Institut Imagine's declared biological collections.
• Pediatric and adult patients with hereditary diseases and relatives who have been informed of the research project and who have not objected to the re-use of their data and biological samples samples

Sponsors & Collaborators

• Institut National de la Santé Et de la Recherche Médicale, France: lead
• Imagine Institute: collaborator
• Commissariat A L'energie Atomique: collaborator

Study Sites (1)

Institut Imagine

Paris, 75015, France

Location

Biospecimen

Retention: SAMPLES WITH DNA

Whole genome sequencing (WGS) and bioinformatics analysis Functional validation Genome-Epigenome-Phenome Associations

MeSH Terms

Conditions

Genetic Diseases, Inborn

Interventions

Whole Genome Sequencing

Condition Hierarchy (Ancestors)

Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Intervention Hierarchy (Ancestors)

Sequence Analysis, DNA; Sequence Analysis; Genetic Techniques; Investigative Techniques

Study Design

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

Study Record Dates

• First Submitted: January 12, 2024
• First Posted: February 15, 2024
• Study Start: January 1, 2019
• Primary Completion: January 1, 2024
• Study Completion: January 1, 2024
• Last Updated: February 15, 2024

Record last verified: 2024-02

Locations

FR (1)