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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
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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
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Secondary ID [1]
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20NM24
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Universal Trial Number (UTN)
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Trial acronym
Gene-STEPS
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Linked study record
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Health condition
Health condition(s) or problem(s) studied:
Epilepsy
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Condition category
Condition code
Neurological
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Epilepsy
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Intervention/exposure
Study type
Observational
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Patient registry
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Target follow-up duration
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Target follow-up type
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Description of intervention(s) / exposure
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Comparator / control treatment
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Control group
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Outcomes
Primary outcome [1]
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Feasibility of rapid genome sequencing in infantile epilepsy
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Assessment method [1]
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Feasibility is measured as the turnaround for participants, from both sample collection and seizure onset to GS result.
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Timepoint [1]
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Within three weeks of sample collection
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Primary outcome [2]
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The Diagnostic Yield of rapid genome sequencing in infantile epilepsy
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Assessment method [2]
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The diagnostic yield is measured as the number of patients who receive a genetic diagnosis.
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Timepoint [2]
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Within three weeks of sample collection
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Primary outcome [3]
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The immediate clinical utility of rapid genome sequencing in infantile epilepsy
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Assessment method [3]
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Clinical utility is measured as actual influence on treatment, potential for precision therapy, additional investigation indicated or avoided, additional prognostic information, influence on goals of care, or influence on genetic counselling (beyond recurrence risk). These are measured using The Clinician-reported Genetic testing Utility InDEx (C-GUIDE; Hayeems et al., 2022), as well as clinical data abstracted from health care records.
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Timepoint [3]
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Within one month of genetic result
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Secondary outcome [1]
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The impact of early genetic diagnosis on developmental outcomes - Bayley 4 - Scales of Infant and Toddler Development.
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Assessment method [1]
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Bayley-4 items are scored 2 points for mastery of skill, 1 point for emerging skill and 0 points if skill is not present. Higher scores are, therefore, indicative of more advanced developmental abilities. Subtest standard scores range from 1 to 19, have a mean of 10 and a standard deviation of 3 (Bayley \& Alyward, 2019).
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Timepoint [1]
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At Recruitment, 12 and 30 months chronological age
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Secondary outcome [2]
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The impact of early genetic diagnosis on developmental outcomes - Vineland Adaptive Behaviour Scales, Third Edition.
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Assessment method [2]
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The Vineland 3 generates five major domain composite scores: communication, daily living skills, socialisation, adaptive behaviour composite and motor skills, as well as a maladaptive score. Domain scores greater than or equal to 86 are considered adequate or above adequate. Domain scores less than or equal to 85 are considered moderately low-to-low, and indicate the patient has a significant skill deficit when compared with similarly aged peers. This is especially true for a domain score below 70. Maladaptive behavior scores up to 17 are considered average, scores of 18 to 20 are considered elevated and scores greater than 21 are considered clinically significant indicating a need for treatment intervention.
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Timepoint [2]
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At Recruitment, 12 and 30 months chronological age
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Secondary outcome [3]
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The impact of early genetic diagnosis on developmental outcomes - Gross Motor Function Classification System (GMFCS)
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Assessment method [3]
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The GMFCS is a standardised classification of functional motor abilities in children with cerebral palsy. Children are assigned a GMFCS level of 1-V according to motor functioning abilities. Level I represents the highest level of gross motor function and level V the lowest.
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Timepoint [3]
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At Recruitment, 12 and 30 months chronological age
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Secondary outcome [4]
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The impact of early genetic diagnosis on developmental outcomes - Paediatric Quality of Life Scale (PedsQL™) Infant Scales
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Assessment method [4]
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The PedsQL™ Infant Scales are a generic health related quality of life instrument specifically for healthy and ill infants ages 1-24 months. The PedsQL Infant Scales encompasses 5 scales: Physical functioning, physical symptoms, emotional functioning, social functioning and cognitive functioning. The Total Scale Score is computed as the sum of all items on the PedsQL™. Items are reversed scored and linearly transformed to a 0-100 scale, so that higher scores indicate better HRQOL.
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Timepoint [4]
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At Recruitment, 12 and 30 months chronological age
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Secondary outcome [5]
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The impact of early genetic diagnosis on developmental outcomes - Parenting Stress Index, Fourth Edition Short Form
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Assessment method [5]
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The PSI-4 SF has thirty-six items are divided into three domains: Parental Distress (PD), Parent-Child Dysfunctional Interaction (P-CDI), and Difficult Child (DC), which combine to form a Total Stress scale. Percentile scoring: Between 16%-84% = Normal ranges of stress. Between 85%-89% = High levels of stress. Greater than or equal to 90% = Clinically significant.
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Timepoint [5]
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At Recruitment, 12 and 30 months chronological age
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Secondary outcome [6]
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The impact of early genetic diagnosis on epilepsy
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Assessment method [6]
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Clinical Dataset \& Seizure diary 4 weeks prior to visit
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Timepoint [6]
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12 months and 30 months chronological age. The clinical dataset will also be retrieved at recruitment.
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Secondary outcome [7]
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The views and experiences of parents offered rapid genomic sequencing for diagnosis of their child
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Assessment method [7]
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Qualitative interviews will be utilised to ascertain parents experiences of receiving the result, the impact of the result, and their hopes and concerns for the future. Parents who decline to participate will be asked about their decision not to take part in the study and have genome sequencing and suggestions for improving counselling and information.
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Timepoint [7]
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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.
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Eligibility
Key inclusion criteria
• Children under 12 months of age presenting with epilepsy.
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Minimum age
No limit
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Maximum age
12
Months
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Sex
Both males and females
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Can healthy volunteers participate?
No
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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.
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Study design
Purpose
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Duration
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Selection
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Timing
Prospective
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Statistical methods / analysis
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Recruitment
Recruitment status
Recruiting
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Data analysis
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Reason for early stopping/withdrawal
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Other reasons
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Date of first participant enrolment
Anticipated
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Actual
1/09/2021
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Date of last participant enrolment
Anticipated
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Actual
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Date of last data collection
Anticipated
1/12/2025
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Actual
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Sample size
Target
300
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Accrual to date
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Final
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Recruitment in Australia
Recruitment state(s)
VIC
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Recruitment hospital [1]
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Murdoch Childrens Research Institute - Parkville
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Recruitment postcode(s) [1]
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3052 - Parkville
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Recruitment outside Australia
Country [1]
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United States of America
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State/province [1]
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Massachusetts
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Country [2]
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Canada
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State/province [2]
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Ontario
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Country [3]
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United Kingdom
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State/province [3]
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London
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Funding & Sponsors
Primary sponsor type
Other
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Name
Great Ormond Street Hospital for Children NHS Foundation Trust
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Address
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Country
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Other collaborator category [1]
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Other
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Name [1]
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Murdoch Childrens Research Institute
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Address [1]
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Country [1]
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Other collaborator category [2]
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Other
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Name [2]
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The Hospital for Sick Children
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Address [2]
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Country [2]
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Other collaborator category [3]
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Other
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Name [3]
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Boston Children's Hospital
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Address [3]
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Country [3]
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Ethics approval
Ethics application status
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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.
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Trial website
https://clinicaltrials.gov/study/NCT06082999
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Trial related presentations / publications
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Public notes
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Contacts
Principal investigator
Name
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Amy McTague
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Address
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UCL Great Ormond Street Institute of Child Health
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Country
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Phone
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Fax
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Email
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Contact person for public queries
Name
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Amy McTague, Dr
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Address
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Country
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Phone
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02039783678
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Fax
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Email
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[email protected]
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Contact person for scientific queries
Data sharing statement
Will individual participant data (IPD) for this trial be available (including data dictionaries)?
Undecided
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No/undecided IPD sharing reason/comment
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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