About the study

HD-CSF is an observational study with the main purpose of collecting and studying cerebrospinal fluid (CSF), the fluid that surrounds the brain and spinal cord, to help better understand what happens in the brains of people with HD.

The pilot study was one of the first to measure levels of the mutant Huntingtin protein as well as other important chemicals in the CSF. In the new phase, researchers want to study CSF in a larger group of people as well as measure how things change over time.

The CSF will be analysed using new techniques to detect levels of the mutant huntingtin protein that causes HD, and also measure the balance of protective and harmful chemicals produced by the brain’s immune cells.

Being able to measure levels of these substances in the CSF will be really important for assessing whether treatments are effective. For instance, it may help us decide in clinical trials of new treatments including ‘gene silencing‘ and KMO inhibition, whether the treatment is affecting levels of the protein in the brain.

Data and samples will be shared with HDClarity, a global multi-site cerebrospinal fluid collection initiative of which Dr Ed Wild is the chief investigator.

What is involved?

CSF will be collected at baseline and then at a follow-up two years later. There will be a screening visit up to 30 days before the baseline and follow-up CSF collection visits. At this visit participants will undergo all the core assessments from the Enroll-HD study. Participants will also provide blood samples for analysis and have optional MRI scans. Study visits may be half a day long. A hotel can be provided for the night before the CSF collection visit along with reimbursement of travel costs.

How do is the CSF collected?

CSF is collected by lumbar puncture, also known as a ‘spinal tap’, a minor procedure where a needle is used to withdraw about 4 teaspoonfuls of fluid from the base of the spine. It takes about 15-30 minutes and is done under local anaesthetic which numbs the area. You will stay in the Leonard Wolfson Experimental Neurology Centre (LWENC), a clinical research facility at the National Hospital for Neurology and Neurosurgery, for half a day from 8:30am until midday when you are able to go home.

Who can take part?

  • People diagnosed with Huntington’s disease
  • People who have tested positive for the gene but are not yet showing symptoms (premanifest HD)
  • People who do not carry the HD gene (controls)
  • People between 18 and 75 years old (inclusive)
  • People who are willing and able to comply with scheduled visits and study procedures
  • People who are not currently participating in a clinical drug trial

Contact the team

If you are interested in taking part or would like more information please contact Lauren Byrne the research assistant coordinating the study.

Email: lauren.byrne.14@ucl.ac.uk

Telephone: 0203 108 7479