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
Location: See all (4) locations...
Study Type: Observational
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.
Eligibility
Participation Requirements
Sex: All
Maximum Age: 1
Healthy Volunteers: f
View:
• • Children under 12 months of age presenting with epilepsy.
Locations
United States
Massachusetts
Boston Children's Hospital
RECRUITING
Boston
Other Locations
Australia
Murdoch Childrens Research Institute
RECRUITING
Parkville
Canada
The Hospital for Sick Children
RECRUITING
Toronto
United Kingdom
UCL Great Ormond Street Institute of Child Health
RECRUITING
London
Contact Information
Primary
Amy McTague, Dr
a.mctague@ucl.ac.uk
02039783678
Time Frame
Start Date: 2021-09-01
Estimated Completion Date: 2025-12
Participants
Target number of participants: 300
Related Therapeutic Areas
Sponsors
Collaborators: Murdoch Childrens Research Institute, Boston Children's Hospital, The Hospital for Sick Children
Leads: Great Ormond Street Hospital for Children NHS Foundation Trust