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Trial details imported from ClinicalTrials.gov

For full trial details, please see the original record at https://clinicaltrials.gov/ct2/show/NCT06082999




Registration number
NCT06082999
Ethics application status
Date submitted
31/08/2023
Date registered
13/10/2023
Date last updated
13/10/2023

Titles & IDs
Public title
Gene-STEPS: Shortening Time of Evaluation in Paediatric Epilepsy Services
Scientific 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
Secondary ID [1] 0 0
20NM24
Universal Trial Number (UTN)
Trial acronym
Gene-STEPS
Linked study record

Health condition
Health condition(s) or problem(s) studied:
Epilepsy 0 0
Condition category
Condition code
Neurological 0 0 0 0
Epilepsy

Intervention/exposure
Study type
Observational
Patient registry
Target follow-up duration
Target follow-up type
Description of intervention(s) / exposure
Comparator / control treatment
Control group

Outcomes
Primary outcome [1] 0 0
Feasibility of rapid genome sequencing in infantile epilepsy
Timepoint [1] 0 0
Within three weeks of sample collection
Primary outcome [2] 0 0
The Diagnostic Yield of rapid genome sequencing in infantile epilepsy
Timepoint [2] 0 0
Within three weeks of sample collection
Primary outcome [3] 0 0
The immediate clinical utility of rapid genome sequencing in infantile epilepsy
Timepoint [3] 0 0
Within one month of genetic result
Secondary outcome [1] 0 0
The impact of early genetic diagnosis on developmental outcomes - Bayley 4 - Scales of Infant and Toddler Development.
Timepoint [1] 0 0
At Recruitment, 12 and 30 months chronological age
Secondary outcome [2] 0 0
The impact of early genetic diagnosis on developmental outcomes - Vineland Adaptive Behaviour Scales, Third Edition.
Timepoint [2] 0 0
At Recruitment, 12 and 30 months chronological age
Secondary outcome [3] 0 0
The impact of early genetic diagnosis on developmental outcomes - Gross Motor Function Classification System (GMFCS)
Timepoint [3] 0 0
At Recruitment, 12 and 30 months chronological age
Secondary outcome [4] 0 0
The impact of early genetic diagnosis on developmental outcomes - Paediatric Quality of Life Scale (PedsQL™) Infant Scales
Timepoint [4] 0 0
At Recruitment, 12 and 30 months chronological age
Secondary outcome [5] 0 0
The impact of early genetic diagnosis on developmental outcomes - Parenting Stress Index, Fourth Edition Short Form
Timepoint [5] 0 0
At Recruitment, 12 and 30 months chronological age
Secondary outcome [6] 0 0
The impact of early genetic diagnosis on epilepsy
Timepoint [6] 0 0
12 months and 30 months chronological age. The clinical dataset will also be retrieved at recruitment.
Secondary outcome [7] 0 0
The views and experiences of parents offered rapid genomic sequencing for diagnosis of their child
Timepoint [7] 0 0
For participating parents: 3-4 weeks and then 6 months after receiving GS result. For non-participating parents: 3 months after deciding not to participate.

Eligibility
Key inclusion criteria
• Children under 12 months of age presenting with epilepsy.
Minimum age
No limit
Maximum age
12 Months
Sex
Both males and females
Can healthy volunteers participate?
No
Key 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
Purpose
Duration
Selection
Timing
Prospective
Statistical methods / analysis

Recruitment
Recruitment status
Recruiting
Data analysis
Reason for early stopping/withdrawal
Other reasons
Date of first participant enrolment
Anticipated
Actual
1/09/2021
Date of last participant enrolment
Anticipated
Actual
Date of last data collection
Anticipated
1/12/2025
Actual
Sample size
Target
300
Accrual to date
Final
Recruitment in Australia
Recruitment state(s)
VIC
Recruitment hospital [1] 0 0
Murdoch Childrens Research Institute - Parkville
Recruitment postcode(s) [1] 0 0
3052 - Parkville
Recruitment outside Australia
Country [1] 0 0
United States of America
State/province [1] 0 0
Massachusetts
Country [2] 0 0
Canada
State/province [2] 0 0
Ontario
Country [3] 0 0
United Kingdom
State/province [3] 0 0
London

Funding & Sponsors
Primary sponsor type
Other
Name
Great Ormond Street Hospital for Children NHS Foundation Trust
Address
Country
Other collaborator category [1] 0 0
Other
Name [1] 0 0
Murdoch Childrens Research Institute
Address [1] 0 0
Country [1] 0 0
Other collaborator category [2] 0 0
Other
Name [2] 0 0
The Hospital for Sick Children
Address [2] 0 0
Country [2] 0 0
Other collaborator category [3] 0 0
Other
Name [3] 0 0
Boston Children's Hospital
Address [3] 0 0
Country [3] 0 0

Ethics approval
Ethics application status

Summary
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.
Trial website
https://clinicaltrials.gov/ct2/show/NCT06082999
Trial related presentations / publications
Public notes

Contacts
Principal investigator
Name 0 0
Amy McTague
Address 0 0
UCL Great Ormond Street Institute of Child Health
Country 0 0
Phone 0 0
Fax 0 0
Email 0 0
Contact person for public queries
Name 0 0
Amy McTague, Dr
Address 0 0
Country 0 0
Phone 0 0
02039783678
Fax 0 0
Email 0 0
a.mctague@ucl.ac.uk
Contact person for scientific queries



Summary Results

For IPD and results data, please see https://clinicaltrials.gov/ct2/show/NCT06082999