MTM-HD: Multiple Tissue Molecular Signatures in Huntington’s Disease

This study is nearly fully recruited. We only need one more early stage female HD participant to complete the study please get in touch if you are interested, contact details are below.

At a glance

Fully recruited
Involves blood tests
Involves a daycase procedure

About the study

From research in HD and other human diseases there is growing evidence that the same mechanisms of disease may be shared between the brain and peripheral tissues. In HD the mutant protein is expressed in almost all cells. With this in mind, we would like to take muscle, fat, skin and blood samples from pre-manifest HD gene carriers HD subjects and matched controls in order to help us understand HD better. As well as gaining more knowledge of HD this study can also help us to identify markers of disease progression but also markers of resilience, and generate drug targets.

By comparing and contrasting the effects of the disease in various tissues in a variety of measures, we hope to be able to construct a molecular map or ‘network’. This will allow us to model HD at a molecular level, and thus identify targets for drug development.

What is involved?

The study involves two visits to the National Hopsital for Neurology & Neurosurgery (NHNN) which should be no more than one month apart.


Visit 1

The first visit is what we call a ‘screening’ visit and requires a full medical assessment, including a medical history and some neurological assessments. Your vital signs, including blood pressure, heart rate, respiratory rate, oxygen saturations and temperature will be checked. We will carry out an electrocardiogram (ECG) which is a pain free procedure allowing us to find out about the rhythm of your heart. Your height and weight will be measured and blood tests will be done. To be a part of the study you must be a participant on Registry and so you may need to consent or up-date your Registry information with us during the visit.


Visit 2

Your second visit to NHNN will be to have the biopsy. This visit starts early in the morning and may require that you stay a night in a London hotel in order to get here on time. You will have similar assessments and checks to the screening visit and further bloods taken, around 80-90mls. We will also take a buccal swab, which is pain free and involves a cotton bud swab being swept around the inside of your mouth for ten seconds. Following this the surgeon will carry out a tissue biopsy from your upper left thigh. A local anaesthetic will be injected into the area and will prevent you feeling pain during removal of the skin and underlying fat. However the removal of muscle tissue may be painful though short-lived (several seconds), as unfortunately local anaesthetic significantly effects the quality and usefulness of the muscle cells obtained from the sample.


The whole procedure takes half an hour and then you will go back to the ward where we will observe you for a couple of hours and then discharge you home.


Seven days following the procedure you will need to have the stitches removed by your local nurse or by us, and you will be left with a 5cm scar on your leg. More information and post procedural care advice will be given during your visits.


All travel and accommodation costs are reimbursed.



Updated September 20, 2013