The NeuralNET cerebral palsy pilot study is a research study looking for rare genetic changes in a child’s DNA which can cause cerebral palsy.
The study aims to find out more about genetic changes that can cause cerebral palsy and to help build a genetic testing pathway in the NHS for children with rare neurological conditions.
Early research studies suggest that up to one in three people with cerebral palsy may have a genetic cause for their diagnosis, although further studies are needed to confirm this.
From engaging locally with families and children diagnosed with cerebral palsy, we found that just over half of them would take up an offer of genetic testing, and even more families said they would consider taking up an offer if they could ask questions about the testing and discuss it with someone before deciding.
About this study
In this study, we will use the latest type of genetic testing called whole-genome sequencing (WGS) in children with cerebral palsy to look for changes in the genes that can cause the condition.
Children who undergo genetic testing as part of the study will have their result returned to them by their referring doctor within about 12 weeks. The overall findings of the study will also be used for research into cerebral palsy that may help us better understand and treat the condition going forward.
It is very important for us to understand what families of children with cerebral palsy think and feel about this type of genetic testing and how undergoing testing affects them. That is why this study is also asking families who have genetic testing to provide feedback about being tested.
At the end of the study, a summary of the overall study results and conclusions will be available.
Who can take part?
For this pilot study, only children with cerebral palsy in neurology / specialist clinics at one of the participating NHS Trusts (Cambridgeshire Community Services NHS Trust, East Suffolk and North Essex NHS Foundation Trust, Newcastle Hospitals NHS Foundation Trust and Bedfordshire Hospitals NHS Foundation Trust) who have been invited by their doctor can take part.
Once this pilot study has ended, the results will be used to design a larger study that will involve more children and include other NHS Trusts around the country.
What will the study involve?
- A blood sample will be collected from the child and ideally from their biological parent(s), if possible.
- The DNA from the blood sample(s) will be sent for whole genome sequencing to look for genetic changes associated with cerebral palsy.
- The child’s parent/guardian will be asked to complete two questionnaires and participate in an optional interview. They will be asked questions about what they think and feel about WGS testing for cerebral palsy and how it has affected them and their family.
Will participants get any results?
Yes. The child’s whole genome sequencing test result will be sent to the referring doctor to share with the child and their family approximately three months (12 weeks) after the blood samples are collected.
For more information
Professor David Rowitch, Consultant Paediatrician, is leading this research.
The study is being coordinated by Emily Li and Heather Pierce at Cambridge University Hospitals NHS Foundation Trust and the University of Cambridge.
To contact the NeuralNET team:
- Telephone 01223 768614
- Email cuh.neuralnetstudy@nhs.net
General information
- NeuralNET cerebral palsy pilot study general information leaflet.
Information for parents
- Information about their child taking part – NeuralNET cerebral palsy pilot study parent information sheet.
Information for children
- Preschool level – NeuralNET cerebral palsy pilot study child (preschool) information sheet
- Primary school level – NeuralNET cerebral palsy pilot study child (primary school) information sheet
- Secondary school level – NeuralNET cerebral palsy pilot study child (secondary school) information sheet
