Recruiting

Observational Study

Sponsor:

Great Ormond Street Hospital for Children NHS Foundation Trust

Code:

NCT06082999

Conditions

Epilepsy

Eligibility Criteria

Sex: All

Age: 0 - 1

Healthy Volunteers: Not accepted

Study Details

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.

Conditions

Epilepsy

Study ID

NCT06082999

Start date

Sep 1, 2021

Status verified date

Aug, 2023

Completion date

Dec, 2025

Anticipated

Primary completion date

Dec, 2025

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 0 - 1

Healthy Volunteers: Not accepted

Inclusion Criteria:

• Children under 12 months of age presenting with epilepsy.

Exclusion Criteria:

  • Simple febrile seizures.
  • Acute or remote symptomatic seizures due to sepsis, haemorrhage, cerebral infarction, hypoxic ischaemic encephalopathy or non-accidental injury.
  • Structural malformations of the brain where the likely genetic cause is known such as tuberous sclerosis or lissencephaly.

Study Design

Enrollment

300 participants

Anticipated

Interventions and Outcome Measures

Primary outcome measure

  • Feasibility of rapid genome sequencing in infantile epilepsy [ Time Frame: Within three weeks of sample collection ]
  • The Diagnostic Yield of rapid genome sequencing in infantile epilepsy [ Time Frame: Within three weeks of sample collection ]
  • The immediate clinical utility of rapid genome sequencing in infantile epilepsy [ Time Frame: Within one month of genetic result ]

Central Contacts and Locations

Central contacts

Amy McTague, Dr

02039783678a.mctague@ucl.ac.uk

Locations

Boston Children's Hospital

Recruiting

Boston, Massachusetts, United States, 02115

Contacts

Ann Poduri, Dr

Annapurna.Poduri@childrens.harvard.edu

The Hospital for Sick Children

Recruiting

Toronto, Ontario, Canada, M5G 1X8

Contacts

Gregory Costain, Dr

gregory.costain@sickkids.ca

More Information

Sponsor

Great Ormond Street Hospital for Children NHS Foundation Trust

Last update posted

Oct 13, 2023

Last verified

Aug, 2023

Keywords

  • Epilepsy
  • Whole Genome Sequencing
  • Genetics
  • Paediatric

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-10. This information was provided to ClinicalTrials.gov by Great Ormond Street Hospital for Children NHS Foundation Trust on 2023-10-13.