Ignite Creation Date:
2024-10-26 @ 3:36 PM
Last Modification Date:
2024-10-26 @ 3:36 PM
Study NCT ID:
NCT06528548
Status:
NOT_YET_RECRUITING
Last Update Posted:
None
First Post:
2024-07-23
Brief Title:
Genetic Newborn Screening for Rare Diseases Within the Screen4Care Project the French Participation
Sponsor:
None
Organization:
None
Study Overview
Official Title:
Genetic Newborn Screening for Rare Diseases Within the Screen4Care Project the French Participation
Status:
NOT_YET_RECRUITING
Status Verified Date:
2024-10
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
No
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
S4C France
Brief Summary:
Newborn screening NBS programs are established to screen infants shortly after birth for conditions that are treatable but not always clinically evident in the newborn period Traditionally metabolic markers in dried blood spots DBS are used to diagnose these diseases NBS detects diseases for which early diagnosis and treatment reduce long-term complications and mortality The screening programs vary widely across Europe Italy currently screens for 48 diseases whereas Germany screens for 19 diseases and France screens for 14
Through advances of genetic testing technologies it is nowadays also possible to use DNA sequencing from DBS to test for genetic diseases In parallel the number of diseases for which treatments are available are constantly increasing
This study aims to explore the use of more extensive genetic testing by panel-based next generation sequencing to screen newborns for treatable genetic diseases Genetic newborn screening gNBS is one of the pillars and the core of WP3 of S4C European Innovative Medicines Innitiative IMI
project indeed this work package WP3 aims to explore the use of gNBS in newborns as a gateway to shorten the diagnostic path and offer the opportunity for early treatment gNBS will adopt different strategies interrogating currently treatable rare diseases RDs TREAT-panel-approach Step1 The TREAT-panel will include 245 disease genes that are related to treatable genetic disorders prioritising those with early onset and where natural history key elements are known
Genome sequencing GS will be offered to symptomatic patients to identify known gNBS-escaped RDs and novel genesphenotypes Step 2 More rarely it could identify a candidate gene not yet known in human pathology
Through advances of genetic testing technologies it is nowadays also possible to use DNA sequencing from DBS to test for genetic diseases In parallel the number of diseases for which treatments are available are constantly increasing
This study aims to explore the use of more extensive genetic testing by panel-based next generation sequencing to screen newborns for treatable genetic diseases Genetic newborn screening gNBS is one of the pillars and the core of WP3 of S4C European Innovative Medicines Innitiative IMI
project indeed this work package WP3 aims to explore the use of gNBS in newborns as a gateway to shorten the diagnostic path and offer the opportunity for early treatment gNBS will adopt different strategies interrogating currently treatable rare diseases RDs TREAT-panel-approach Step1 The TREAT-panel will include 245 disease genes that are related to treatable genetic disorders prioritising those with early onset and where natural history key elements are known
Genome sequencing GS will be offered to symptomatic patients to identify known gNBS-escaped RDs and novel genesphenotypes Step 2 More rarely it could identify a candidate gene not yet known in human pathology
Detailed Description:
None
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
None
Is a FDA Regulated Device?:
None
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None