Ignite Creation Date:
2024-05-06 @ 8:07 PM
Last Modification Date:
2024-10-26 @ 3:21 PM
Study NCT ID:
NCT06260319
Status:
COMPLETED
Last Update Posted:
2024-02-15
First Post:
2024-01-12
Brief Title:
Decoding Developmental Disorders in Humams
Sponsor:
Institut National de la Santé Et de la Recherche Médicale France
Organization:
Institut National de la Santé Et de la Recherche Médicale France
Study Overview
Official Title:
Decoding Developmental Disorders in Humams Devodecode
Status:
COMPLETED
Status Verified Date:
2024-02
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
devodecode
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 are2
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
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 are2
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
Detailed 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 150000 newborns every year in Europe 1 These pathologies are associated with high morbidity and mortality rates They were responsible for 632000 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 20000 and 25000 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 challengewe 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
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 20000 and 25000 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 challengewe 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
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
False
Is a FDA Regulated Device?:
False
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None