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Clinical Trial Details — Status: Completed

Administrative data

NCT number NCT06260319
Other study ID # C19-64
Secondary ID
Status Completed
Phase
First received
Last updated
Start date January 1, 2019
Est. completion date January 1, 2024

Study information

Verified date February 2024
Source Institut National de la Santé Et de la Recherche Médicale, France
Contact n/a
Is FDA regulated No
Health authority
Study type Observational

Clinical Trial 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


Description:

Developmental disorders, which encompass congenital anomalies and intellectual disabilities - including autism spectrum disorders - constitute a vast group of pathologies, caused by a complex set of genetic and environmental factors. They can affect several organs or tissues, such as brain abnormalities, head and neck malformations, heart defects, skeletal disorders and ophthalmological or hearing pathologies. They occur in around 2-3% of live births - affecting around 150,000 newborns every year in Europe (1). These pathologies are associated with high morbidity and mortality rates. They were responsible for 632,000 deaths worldwide in 2013 (2), representing a major social, economic and health problem. Together, these diseases represent a considerable challenge in terms of medical care and genetic counseling, underlining the major deficits in fundamental and clinical knowledge to date. At the Hôpital Necker-Enfants malades and the Institut des Maladies Génétiques Imagine, between 20,000 and 25,000 patients suffering from a wide range of developmental disorders are treated every year. Multidisciplinary consultations, together with state-of-the-art genomic investigations such as comparative genome hybridization (CGH) and whole exome sequencing (WES), provide the research and clinical teams involved with in-depth knowledge of the natural history of these diseases and the phenotypes of affected patients, as well as a better understanding of their genetic basis. Despite this, the rate of unknown diagnoses is very high (over 65-70% of cases remain without a distinct pathophysiological label), due to both the heterogeneity of these diseases and the complexity of their genetic architecture, probably involving non-coding DNA in many cases. Studying this non-coding DNA therefore requires technologies such as whole genome sequencing (WGS). The main aim of the DEVO-DECODE project is to align our currently limited knowledge of the genetic architecture of developmental disorders with our more advanced knowledge of their "phenome". To meet this challenge,we propose to draw on the expertise and resources available within the research and clinical teams at Institut Imagine and Hôpital Necker, in order to: 1. create well-characterized, homogeneous cohorts. 2. systematize the collection of samples from patient care for biobanking and other studies. 3. carry out WGS studies not only to refine exome sequencing data, but above all to identify and validate non-coding DNA alterations, in both transcribed and non-transcribed genomic domains. 4. develop precise preclinical models for functional studies of candidate pathophysiological pathways.


Recruitment information / eligibility

Status Completed
Enrollment 720
Est. completion date January 1, 2024
Est. primary completion date January 1, 2024
Accepts healthy volunteers
Gender All
Age group 1 Year to 90 Years
Eligibility Inclusion Criteria: - 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 Exclusion Criteria: -

Study Design


Intervention

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

Locations

Country Name City State
France Institut Imagine Paris

Sponsors (3)

Lead Sponsor Collaborator
Institut National de la Santé Et de la Recherche Médicale, France Commissariat A L'energie Atomique, Imagine Institute

Country where clinical trial is conducted

France, 

Outcome

Type Measure Description Time frame Safety issue
Primary 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 secondary objectives 1 Carry out WGS studies not only to refine exome 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 up to 2 years
Secondary secondary objectives 2 Develop precise preclinical models for functional studies of pathophysiological pathways. up to 2 years
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