Gene-STEPS
Research type
Research Study
Full 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
IRAS ID
293442
Contact name
Amy McTague
Contact email
Sponsor organisation
GREAT ORMOND STREET HOSPITAL FOR CHILDREN NHS FOUNDATION TRUST
Clinicaltrials.gov Identifier
20NM24, NIHR GOSH BRC research reporting (NIHR and GOSH website and reports)
Duration of Study in the UK
5 years, 0 months, 2 days
Research summary
When babies develop epileptic seizures in the first year of life they can be very difficult to treat. This form of epilepsy can sadly result in severe developmental delay and frequent hospital admissions. We think that at least 50% of babies with epilepsy have a change, or a spelling mistake, in one of their genes. We are now able to do a genetic test which looks at all the genes a baby has to find the spelling mistake. This is called whole genome sequencing. We can sometimes change the baby’s treatment based on the result of this. It may also be helpful for families to understand their baby’s problems better.
We would like to test whether it is possible and useful to have this test result back quickly, within 3 weeks, and whether this has an impact on epilepsy and developmental outcomes for babies.
Babies under 12 months of age who come to GOSH due to seizures, and who do not have a clear explanation for their epilepsy such as an infection, will be offered recruitment into the study. We will take a blood sample from the baby and parents and whole genome sequencing will be done on all three samples, also known as trio whole genome sequencing. We will also assess the developmental stage of the babies at diagnosis, and at 12 and 24 months of age.
At the end of the study, we will be able to say how well the genetic testing performed and what impact it had for the babies and their families.REC name
London - Bloomsbury Research Ethics Committee
REC reference
21/LO/0421
Date of REC Opinion
9 Aug 2021
REC opinion
Further Information Favourable Opinion