RECRUITING

Gene-STEPS: Shortening Time of Evaluation in Paediatric Epilepsy Services

Study Overview

This clinical trial focuses on testing the efficacy of different digital interventions to promote re-engagement in cancer-related long-term follow-up care for adolescent and young adult (AYA) survivors of childhood cancer.

Description

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.

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

Quick Facts

Study Start:2021-09-01
Study Completion:2025-12
Study Type:Not specified
Phase:Not Applicable
Enrollment:Not specified
Status:RECRUITING

Study ID

NCT06082999

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Ages Eligible for Study:Not specified to 12 Months
Sexes Eligible for Study:ALL
Accepts Healthy Volunteers:No
Standard Ages:CHILD
Inclusion CriteriaExclusion Criteria
  1. Age 18 years or older
  2. Willing and able to provide informed consent
  3. Able to understand and follow study procedures
  4. Stable medical condition
  1. * Simple febrile seizures.
  2. * Acute or remote symptomatic seizures due to sepsis, haemorrhage, cerebral infarction, hypoxic ischaemic encephalopathy or non-accidental injury.
  3. * Structural malformations of the brain where the likely genetic cause is known such as tuberous sclerosis or lissencephaly.

Contacts and Locations

Study Contact

Amy McTague, Dr
CONTACT
02039783678
a.mctague@ucl.ac.uk

Principal Investigator

Amy McTague
PRINCIPAL_INVESTIGATOR
UCL Great Ormond Street Institute of Child Health

Study Locations (Sites)

Boston Children's Hospital
Boston, Massachusetts, 02115
United States

Collaborators and Investigators

Sponsor: Great Ormond Street Hospital for Children NHS Foundation Trust

  • Amy McTague, PRINCIPAL_INVESTIGATOR, UCL Great Ormond Street Institute of Child Health

Study Record Dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Registration Dates

Study Start Date2021-09-01
Study Completion Date2025-12

Study Record Updates

Study Start Date2021-09-01
Study Completion Date2025-12

Terms related to this study

Keywords Provided by Researchers

  • Epilepsy
  • Whole Genome Sequencing
  • Genetics
  • Paediatric

Additional Relevant MeSH Terms

  • Epilepsy