Ignite Creation Date:
2024-05-06 @ 7:39 PM
Last Modification Date:
2024-10-26 @ 3:11 PM
Study NCT ID:
NCT06082999
Status:
RECRUITING
Last Update Posted:
2023-10-13
First Post:
2023-08-31
Brief Title:
Gene-STEPS Shortening Time of Evaluation in Paediatric Epilepsy Services
Sponsor:
Great Ormond Street Hospital for Children NHS Foundation Trust
Organization:
Great Ormond Street Hospital for Children NHS Foundation Trust
Study Overview
Official Title:
Gene-STEPS Shortening Time of Evaluation in Paediatric Epilepsy Services a Multi-centre Prospective Evaluation of the Impact of Early Genetic Diagnosis on Patient Outcomes
Status:
RECRUITING
Status Verified Date:
2023-08
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:
Gene-STEPS
Brief Summary:
Overall this observational cohort study aims too
1 Implement rapid trio WGS for all children presenting to our health systems with epilepsy onset under 12 months of age
2 Utilize electronic healthcare records and research databases to unite phenotypic and genomic data and to create a virtual registry across all institutions that will promote ongoing discovery
3 Assess the impact of early genetic diagnosis on epilepsy developmental and health economic outcomes through formal longitudinal assessments of all children enrolled
1 Implement rapid trio WGS for all children presenting to our health systems with epilepsy onset under 12 months of age
2 Utilize electronic healthcare records and research databases to unite phenotypic and genomic data and to create a virtual registry across all institutions that will promote ongoing discovery
3 Assess the impact of early genetic diagnosis on epilepsy developmental and health economic outcomes through formal longitudinal assessments of all children enrolled
Detailed Description:
In the past decade the genomic revolution has led to the identification of underlying genetic aetiologies for childhood epilepsy in the form of monogenic disorders affecting ion channels neurotransmitter receptors synaptic proteins and other families of proteins In a growing number of cases the specific genetic diagnosis informs prognosis and genetic counselling leads to the opportunity to participate in natural history studies and even to changes in treatment that to date anecdotally may change outcomes in seizures and in neurodevelopment However a major challenge in clinical practice is that early intervention requires early diagnosis
Currently the diagnostic odyssey in early-onset epilepsy is long and arduous for patients and their families The timing and nature of genetic testing for such patients varies widely within and across countries and institutions Our collective expertise includes epilepsy genetics research genomic research clinical epilepsy clinical trials and team science across four leading paediatric institutions in the IPCHiP Consortium Boston Childrens Hospital US Great Ormond Street Hospital and UCL Great Ormond Street Institute of Child Health UK Royal Childrens Hospital Melbourne and Murdoch Childrens Research Institute Australia and The Hospital for Sick Children Sick Kids Canada Each of our institutions has a proven track record of discovery and translation to patients and our combined efforts in epilepsy will set a new standard for multi-institutional research data sharing and improvement To investigate our hypothesis that rapid genetic diagnosis and tailored management could improve outcomes we propose a novel approach to streamline and accelerate diagnostics in these severely affected children
Overall this observational cohort study aims too
1 Implement rapid trio WGS for all children presenting to our health systems with epilepsy onset under 12 months of age
2 Utilize electronic healthcare records and research databases to unite phenotypic and genomic data and to create a virtual registry across all institutions that will promote ongoing discovery
3 Assess the impact of early genetic diagnosis on epilepsy developmental and health economic outcomes through formal longitudinal assessments of all children enrolled
Currently the diagnostic odyssey in early-onset epilepsy is long and arduous for patients and their families The timing and nature of genetic testing for such patients varies widely within and across countries and institutions Our collective expertise includes epilepsy genetics research genomic research clinical epilepsy clinical trials and team science across four leading paediatric institutions in the IPCHiP Consortium Boston Childrens Hospital US Great Ormond Street Hospital and UCL Great Ormond Street Institute of Child Health UK Royal Childrens Hospital Melbourne and Murdoch Childrens Research Institute Australia and The Hospital for Sick Children Sick Kids Canada Each of our institutions has a proven track record of discovery and translation to patients and our combined efforts in epilepsy will set a new standard for multi-institutional research data sharing and improvement To investigate our hypothesis that rapid genetic diagnosis and tailored management could improve outcomes we propose a novel approach to streamline and accelerate diagnostics in these severely affected children
Overall this observational cohort study aims too
1 Implement rapid trio WGS for all children presenting to our health systems with epilepsy onset under 12 months of age
2 Utilize electronic healthcare records and research databases to unite phenotypic and genomic data and to create a virtual registry across all institutions that will promote ongoing discovery
3 Assess the impact of early genetic diagnosis on epilepsy developmental and health economic outcomes through formal longitudinal assessments of all children enrolled
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