NeuralNET Cerebral Palsy Pilot Study

NCT05858268 | Active Not Recruiting

• 1 other identifier: IRAS: 319781
• Study Type: observational
• Target: 66
• Locations: 1 country
• Sites: 1

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.

Conditions

Cerebral Palsy

Outcome Measures

Primary Outcomes (1)

• Feasibility of rapid whole-genome sequencing of children with cerebral palsy

  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.

  16 months

Secondary Outcomes (13)

• Uptake of WGS testing by families with a child with CP

  Baseline

• Reasons for declining offer of WGS

  16 months

• Identification of specific genetic contributors to CP in the UK

  16 months

• Parent/guardian intolerance for uncertainty

  baseline

• Parent/guardian attitude to genome sequencing

  baseline and 16 months

Interventions

Whole-genome sequencing GENETIC

Whole-genome sequencing

Eligibility Criteria

• Age: Up to 15 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17)
• Sampling Method: Non-Probability Sample

Study Population

Children with a clinical diagnosis of cerebral palsy

You may qualify if:

• 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

You may not qualify if:

• Children with cerebral palsy (CP):
• Children that have a pre-existing genetic diagnosis from whole genome sequencing or whole-exome sequencing
• A biological parent of the child
• Aged 18 years or above
• Willing and able to give informed consent for participation in the study

Sponsors & Collaborators

• University of Cambridge: lead
• Rosetrees Trust: collaborator
• Isaac Newton Trust: collaborator
• National Institute for Health Research, United Kingdom: collaborator
• Illumina, Inc.: collaborator

Study Sites (1)

Cambridge University Hospitals NHS Trust

Cambridge, CB2 0QQ, United Kingdom

Location

Related Links

• Project website

MeSH Terms

Conditions

Cerebral Palsy

Interventions

Whole Genome Sequencing

Condition Hierarchy (Ancestors)

Brain Damage, Chronic; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases

Intervention Hierarchy (Ancestors)

Sequence Analysis, DNA; Sequence Analysis; Genetic Techniques; Investigative Techniques

Study Officials

• David Rowitch, MD

  University of Cambridge

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Research Study Coordinator

Study Record Dates

• First Submitted: April 24, 2023
• First Posted: May 15, 2023
• Study Start: April 14, 2023
• Primary Completion: September 30, 2025
• Study Completion: January 31, 2026
• Last Updated: March 30, 2025

Record last verified: 2025-03

Data Sharing

• IPD Sharing: Will not share

Locations

GB (1)