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Decoding Developmental Disorders in Humams

NCT06260319 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 720

Last updated 2024-02-15

No results posted yet for this study

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

Interventions

GENETIC

Whole genome sequencing and Genome-Epigenome-Phenome Associations

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

Sponsors & Collaborators

  • Imagine Institute

    collaborator OTHER

  • Commissariat A L'energie Atomique

    collaborator OTHER_GOV

  • Institut National de la Santé Et de la Recherche Médicale, France

    lead OTHER_GOV

Eligibility

Min Age
1 Year
Max Age
90 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2019-01-01
Primary Completion
2024-01-01
Completion
2024-01-01

Countries

  • France

Study Locations

More Related Trials

Entities

Diseases

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT06260319 on ClinicalTrials.gov