Shortening evaluation time for young children with epilepsy
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
This study is trying to see if using quick genetic testing can help doctors better understand and treat young children under one year old who have epilepsy.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 300 (estimated) |
| Ages | N/A to 12 Months |
| Sex | All |
| Sponsor | Great Ormond Street Hospital for Children NHS Foundation Trust Academic / other |
| Locations | 4 sites (Boston, Massachusetts and 3 other locations) |
| Trial ID | NCT06082999 on ClinicalTrials.gov |
What this trial studies
This observational cohort study aims to implement rapid whole genome sequencing (WGS) for children under 12 months presenting with epilepsy. By utilizing electronic healthcare records and research databases, the study will create a virtual registry that combines phenotypic and genomic data across multiple institutions. The impact of early genetic diagnosis on epilepsy and related health outcomes will be assessed through longitudinal evaluations of enrolled children. The study involves collaboration among leading pediatric institutions to enhance the understanding and treatment of early-onset epilepsy.
Who should consider this trial
Good fit: Ideal candidates for this study are children under 12 months of age who present with epilepsy.
Not a fit: Patients with simple febrile seizures or those with known structural brain malformations are unlikely to benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to faster and more accurate diagnoses for young children with epilepsy, potentially improving treatment outcomes.
How similar studies have performed: Other studies have shown success with similar genomic approaches in diagnosing childhood epilepsy, indicating a promising avenue for this research.
Eligibility criteria
Show full inclusion / exclusion criteria
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.
Where this trial is running
Boston, Massachusetts and 3 other locations
- Boston Children's Hospital — Boston, Massachusetts, United States (Recruiting)
- Murdoch Childrens Research Institute — Parkville, Victoria, Australia (Recruiting)
- The Hospital for Sick Children — Toronto, Ontario, Canada (Recruiting)
- UCL Great Ormond Street Institute of Child Health — London, United Kingdom (Recruiting)
Study contacts
- Principal investigator: Amy McTague — UCL Great Ormond Street Institute of Child Health
- Study coordinator: Amy McTague, Dr
- Email: a.mctague@ucl.ac.uk
- Phone: 02039783678
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.