UCL HUNTINGTON’S DISEASE RESEARCH

INFORMATION FOR PATIENTS, RELATIVES AND CARERS

UCL HUNTINGTON’S DISEASE RESEARCH

HD BIOMARKERS PROJECT

At a glance

Now recruiting
Involves blood tests

About the study

There are lots of potential treatments for HD that need to be tested. But it is very difficult to determine how effective a therapy is being over time, because the clinical examinations we use in patients are not sensitive enough to pick up significant changes over short time periods.
So, finding other markers such as blood tests, brain scans or clinical tests, that could also be used to track disease progression would be very useful. Ways of monitoring the disease more accurately, in ways that reflect what is happening to brain cells, are crucial for the monitoring of therapies that will slow the disease.
We call these measures biomarkers and at the moment, there is no single test or combination of tests that accurately measures and predicts the progression of HD.
In addition, markers capable of detecting changes in patients who have the HD gene but do not yet have any symptoms of the disease (carriers), will be essential to decide when to start treatment to delay progression and in monitoring their success.
The Queen Square biomarkers project has already collected one of the largest and most important libraries of blood and urine samples from HD patients and their families. The samples are shared with collaborators in the UK and abroad to identify and evaluate protein, metabolic, genetic and other biomarkers.

What is involved

The biomarkers project involves giving about 50ml (three tablespoonfuls) of blood. We collect specimens annually from patients who are already enrolled, as well as some new patients.
The blood test is just like any other blood test you may have had for clinical reasons, and can be done at the HD Multidisciplinary Clinic. Your blood and urine is not tested for anything that we already know to be of importance, so you will not receive a ‘result’ from the test.

Lumbar puncture

Some subjects will be invited to donate cerebrospinal fluid (CSF) through a procedure called a lumbar puncture. Fluid is collected using a fine needle through the skin at the base of the spine. Local anesthetic is used to numb the area beforehand. The procedure takes about 30 minutes. Around 5-10% of people get a headache afterwards, which usually settles within a day or two.
Watch a video of a volunteer talking about having a lumbar puncture for research.

Who can take part

To take part in the HD biomarkers project, you must:

Who cannot take part

Patients with some medical conditions, or taking certain medications that may interfere with the tests, cannot take part in the HD Biomarkers project.

Find out more

Information sheet people with the HD mutation
Supplementary information sheet for Lumbar punctures
Contact the study team for more information:

Miss Nicola Robertson
020 7611 0126
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Updated October 12, 2010