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Trial details imported from ClinicalTrials.gov

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




Registration number
NCT06082999
Ethics application status
Date submitted
31/08/2023
Date registered
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
Trial website
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

Data sharing statement
Will individual participant data (IPD) for this trial be available (including data dictionaries)?
Undecided
No/undecided IPD sharing reason/comment


What supporting documents are/will be available?

No Supporting Document Provided



Results publications and other study-related documents

No documents have been uploaded by study researchers.


Results not provided in https://clinicaltrials.gov/study/NCT06082999