The NeuralNET: Research to Impact Diagnosis, Mechanistic Understanding and Treatment of Children's Brain and Mental Health Disorders - a Pilot Study in Cerebral Palsy
Trial Snapshot
- Phase
- Not Applicable
- Status
- Active, not recruiting
- Sponsor
- University of Cambridge
- Enrollment
- 66
- Locations
- 1
- Primary Endpoint
- Feasibility of rapid whole-genome sequencing of children with cerebral palsy
Study Overview
Brief Summary
The NeuralNET Cerebral Palsy Pilot Study is testing a genetic testing pathway in the NHS for children with cerebral palsy (CP). Other studies suggest that almost one in three peoples' CP is caused by a change in their genes, but more studies are needed to confirm this. A genetic test called whole genome sequencing (WGS) will be used for children who have CP to look for rare changes in genes that cause the condition, and the results of the test will be given to children's doctors within 12 weeks. Knowing that CP has a genetic cause could lead to changes being made to a child's care or treatment that could improve their condition.
The study will test 66 children with CP from 3 hospitals, and also their biological parent(s), if they're available. Following informed consent, the investigators will collect a blood sample from everyone taking part which will be sent for WGS. It is important to understand what families think and feel about the testing. The investigators will ask parents/guardians of the children taking part to fill in two questionnaires, one before and one after WGS. Some parents/guardians will also be interviewed after getting the WGS result, to ask about their experience of the testing. The study will take up to 16 months per family.
The results of this pilot study will tell the investigators if it is feasible for the NHS to use WGS to test children with CP. If so, a larger study testing more children with CP can then be carried out to help decide if this type of WGS-based testing should be made available through the NHS to children with CP whose clinical care might be changed by the result. The genetic findings from this study will also be made available to other researchers and doctors to do more research into CP that might help improve general understanding of the condition and its potential treatment.
Study Design
- Study Type
- Observational
- Observational Model
- Cohort
- Time Perspective
- Prospective
Eligibility Criteria
- Ages
- — to 15 Years (Child)
- Sex
- All
- Accepts Healthy Volunteers
- No
Inclusion Criteria
- •Children with cerebral palsy (CP):
- •Has a clinical diagnosis of CP in the medical record
- •Any GMFCS score (GMFCS 1-5)
- •Does not have a known genetic diagnosis that explains the CP phenotype
- •Has a parent/legal guardian available who can consent and is willing to complete study questionnaires
- •Invited to participate by a clinician at a participating recruitment site
- •Biological parents of children with CP will also be included in the study if they are:
- •A biological parent of the child
- •Aged 18 years or above
- •Willing and able to give informed consent for participation in the study Participant type
Exclusion Criteria
- •Children with cerebral palsy (CP):
- •Children that have a pre-existing genetic diagnosis from whole genome sequencing or whole-exome sequencing
- •Children not matching the inclusion criteria
- •Biological parents of children with CP will be excluded from the study if they do not meet the biological parent inclusion criteria i.e. they ARE NOT:
- •A biological parent of the child
- •Aged 18 years or above
- •Willing and able to give informed consent for participation in the study
Outcomes
Primary Outcomes
Feasibility of rapid whole-genome sequencing of children with cerebral palsy
Time Frame: 16 months
The investigators will measure feasibility of rapid whole-genome sequencing of children with cerebral palsy by successful delivery of WGS results to 66 children with a clinical diagnosis of CP within 12 weeks of blood sample receipt in the laboratory.
Secondary Outcomes
- Reasons for declining offer of WGS(16 months)
- Clinical utility of WGS testing in children with CP(16 months)
- Generation of data to support the refinement of clinical criteria for WGS for CP(16 months)
- Uptake of WGS testing by families with a child with CP(Baseline)
- Parent/guardian attitude to genome sequencing(baseline and 16 months)
- Parent/guardian decisional regret(16 months)
- Identification of specific genetic contributors to CP in the UK(16 months)
- Parent/guardian intolerance for uncertainty(baseline)
- Parent/guardian decisional conflict(baseline)
- Parent/guardian empowerment(baseline, 16 months)
- Parent/guardian psychological impact of WGS(16 months)
- Impact of WGS on family quality of life(16 months)
- Number of candidate variants which warrant further investigation of pathogenicity(16 months)
Investigators
Heather Pierce
Research Study Coordinator
University of Cambridge