Studying cerebrospinal fluid to understand key CNS pathobiological targets in Huntington’s disease


At a glance

 No longer recruiting

About the study

HD-CSF is a 2-year longitudinal observational study with the main purpose of collecting and studying biofluid biomarkers in Huntington’s disease, such as blood and cerebrospinal fluid (CSF), the fluid that surrounds the brain and spinal cord. Our aim is to help better understand what happens in the brains of people with HD, and to do so we are studying biomarkers in a large group of people as well as measuring how things change over time and in relation to other disease markers (i.e. clinical assessments and brain imaging).

This study is approaching the end of the final phase (2-year follow up visit), and is expected to be completed by the end of the year. The first phase (baseline visit) finished at the end of 2017 with the enrolment of 80 volunteers. The data collected have been the basis for a big step forward in our knowledge about HD. Indeed, several major scientific papers have been published thanks to the HD-CSF samples and data. This dataset will continue to be used to further advance our understanding about HD.

Results of measuring mutant huntingtin in the cerebrospinal fluid (A) and neurofilament light protein in the cerebrospinal fluid (B) and blood (C) of the HD-CSF participants.

Links to these papers can be found below:



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 will also be the chief investigator.

What is involved?

CSF will be collected at baseline and then at the 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 we collect the CSF?

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 new clinical research facility at the NHNN, for half a day from 8:30am until midday when you are able to go home.

picture 2

A patient being assessed at the LWENC facility by a LWENC nurse.

picture 3

Dr Ed Wild at the LWENC explaining CSF procedures and why it’s important to study in HD.

Who can take part


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

PDF document

Download the information sheet for HD-CSF

PDF document

 Download the protocol for HD-CSF

Updated February 2, 2016