Gene-STEPS: Shortening Time of Evaluation in Paediatric Epilepsy Services

NCT06082999 | Unknown

• 1 other identifier: 20NM24
• Study Type: observational
• Target: 300
• Locations: 4 countries
• Sites: 4

Brief Summary

Overall, this observational cohort study aims too:

1. 1.Implement rapid trio WGS for all children presenting to our health systems with epilepsy onset under 12 months of age.
2. 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. 3.Assess the impact of early genetic diagnosis on epilepsy, developmental, and health economic outcomes through formal longitudinal assessments of all children enrolled.

Conditions

Epilepsy

Keywords

Epilepsy; Whole Genome Sequencing; Genetics; Paediatric

Outcome Measures

Primary Outcomes (3)

• Feasibility of rapid genome sequencing in infantile epilepsy

  Feasibility is measured as the turnaround for participants, from both sample collection and seizure onset to GS result.

  Within three weeks of sample collection

• The Diagnostic Yield of rapid genome sequencing in infantile epilepsy

  The diagnostic yield is measured as the number of patients who receive a genetic diagnosis.

  Within three weeks of sample collection

• The immediate clinical utility of rapid genome sequencing in infantile epilepsy

  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.

  Within one month of genetic result

Secondary Outcomes (7)

• The impact of early genetic diagnosis on developmental outcomes - Bayley 4 - Scales of Infant and Toddler Development.

  At Recruitment, 12 and 30 months chronological age

• The impact of early genetic diagnosis on developmental outcomes - Vineland Adaptive Behaviour Scales, Third Edition.

  At Recruitment, 12 and 30 months chronological age

• The impact of early genetic diagnosis on developmental outcomes - Gross Motor Function Classification System (GMFCS)

  At Recruitment, 12 and 30 months chronological age

• The impact of early genetic diagnosis on developmental outcomes - Paediatric Quality of Life Scale (PedsQL™) Infant Scales

  At Recruitment, 12 and 30 months chronological age

• The impact of early genetic diagnosis on developmental outcomes - Parenting Stress Index, Fourth Edition Short Form

  At Recruitment, 12 and 30 months chronological age

Eligibility Criteria

• Age: Up to 12 Months
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17)
• Sampling Method: Non-Probability Sample

Study Population

Children with epilepsy onset under 12 months of age presenting to an epilepsy service. This is an international multi-centre collaborative study with GOSH as the UK sponsor.

You may qualify if:

• Children under 12 months of age presenting with epilepsy.

You may not qualify if:

• 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.

Sponsors & Collaborators

• Great Ormond Street Hospital for Children NHS Foundation Trust: lead
• Murdoch Childrens Research Institute: collaborator
• The Hospital for Sick Children: collaborator
• Boston Children's Hospital: collaborator

Study Sites (4)

Boston Children's Hospital

Boston, Massachusetts, 02115, United States

RECRUITING

Murdoch Childrens Research Institute

Parkville, Victoria, 3052, Australia

RECRUITING

The Hospital for Sick Children

Toronto, Ontario, M5G 1X8, Canada

RECRUITING

UCL Great Ormond Street Institute of Child Health

London, WC1N 1DZ, United Kingdom

RECRUITING

Biospecimen

Retention: SAMPLES WITH DNA

Blood samples for DNA and RNA will be collected from patients. Blood samples for DNA will be collected from the parents of the patient, both in accordance with the patient consent form and information sheet.

MeSH Terms

Conditions

Epilepsy

Condition Hierarchy (Ancestors)

Brain Diseases; Central Nervous System Diseases; Nervous System Diseases

Study Officials

• Amy McTague

  UCL Great Ormond Street Institute of Child Health

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Amy McTague, Dr

CONTACT

02039783678; a.mctague@ucl.ac.uk

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: August 31, 2023
• First Posted: October 13, 2023
• Study Start: September 1, 2021
• Primary Completion: December 1, 2025
• Study Completion: December 1, 2025
• Last Updated: October 13, 2023

Record last verified: 2023-08

Locations

AU (1); US (1); GB (1); CA (1)