BSc (Hons) MBChB (Hons) FRCP PhD
Professor of Clinical Neurology
This site aims to bring together information about our research projects in Huntington’s disease (HD) for patients, family members and health professionals.
Through the Huntington’s Disease Multidisciplinary Clinic of the National Hospital for Neurology and Neurosurgery, we offer expert care and involvement in cutting-edge research, including clinical trials and work to understand HD and develop new treatments.
Our group is the largest and most productive clinically-focused HD research group in the UK.
HD researcher Dr Ed Wild underwent a lumbar puncture last week, to experience first hand what the procedure feels like – and to donate valuable cerebrospinal fluid for Huntington’s disease research.
Ed volunteered for the procedure as part of our HD Biomarkers study. CSF surrounds the brain and shares some of its chemical makeup, so studying CSF is a really important tool for understanding brain changes in HD. Measuring levels of the huntingtin protein in CSF is also important for the global effort to develop gene silencing drugs for HD and begin clinical trials.
“It went very smoothly,” says Ed. “The anticipation was worse than the actual procedure. The local anaesthetic stings a bit, but that stops after about ten seconds. Then all I felt was a bit of pushing. Some people get a headache afterwards but I was fine. I had some mild back discomfort the next day, but was able to exercise normally.”
Ed’s CSF will be sent, along with that of our other patient and control volunteers, to Italy where our partners at IRBM Promidis are developing new tests to measure levels of the huntingtin protein, in a study supported by the CHDI Foundation.
Ed holds the sample of his CSF after the lumbar puncture procedure
Dr Ed Wild, Clinical Lecturer in Neurology in the UCL Huntington’s Disease Research Group, is planning a new study called HD-CSF, and would like to hear your thoughts on the proposal.
HD-CSF will focus on collecting cerebrospinal fluid (CSF) from people with Huntington’s disease. The CSF will be analysed to see whether we can measure 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.
These measurements are important for testing drugs currently being developed for HD and will hopefully speed up the start of clinical trials of new treatments including ‘gene silencing‘ and KMO inhibition.
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 minutes and is done under local anaesthetic.
If you’d like to hear more about the proposal, and offer your thoughts on the design of the study, please get in touch.
On Thursday 20th June at 6:45pm there will be another chance to see the award-winning Huntington’s disease documentary Do You Really Want to Know, from Academy Award winning director John Zaritsky.
The film will be screened on the opening night of UCL’s Open City Documentary Festival, followed by a panel discussion featuring experts including UCL’s Prof Sarah Tabrizi – head of the UCL HD research group – and Dr Jeff Carroll, the HD researcher and mutation carrier featured in the film.
The film follows three families who have been confronted with the decision of whether or not to be tested for Huntington’s Disease (HD) – an inherited degenerative neurological illness that strikes in adult life.
Through three emotional, inspiring and surprising stories, viewers will learn how different people have faced the decision, and how they responded to their results – either hearing the worst news imaginable, or the best news of their life.
‘Do You Really Want to Know?’ won two Golden Sheaf Awards: Best Documentary (Science/Medicine/Technology) and Best Director (Non-Fiction) at the 2012 Yorkton Film Festival; a Chris Award for Best Science & Technology Documentary at the 2012 Columbus International Film & Video Festival; and Best Documentary the 2012 Okanagan International Film Festival.
The screening is endorsed by the UCL / UCLH Biomedical Research Centre.
The results and analysis of the 3-year followup data from the TRACK-HD study, led by Prof Sarah Tabrizi at UCL Institute of Neurology, have been published in top scientific journal Lancet Neurology – the fourth TRACK-HD publication in as many years to be featured in the journal.
In the article, Prof Tabrizi’s team report a set of robust tests that could help predict the onset of Huntington’s disease (HD) and whether the disease is progressing in groups of people who are not yet showing symptoms.
The battery of tests could be used to assess whether new treatments are slowing the disease, up to 10 years before the development of noticeable symptoms.
“These new tests could be used in future preventative drug trials in individuals who are gene-positive for HD but are not yet showing overt motor symptoms. These people have the most to gain by initiating treatment early to delay the start of these overt symptoms and give them a high quality of life for a longer period of time”, explains Prof Tabrizi.
“A new generation of drugs will be ready for human trials in the very near future. This study now gives us a number well-defined parameters that correlate with disease progression. By extending the reachof clinical trials to include individuals who are currently free of overt symptoms, there is a realistic future possibility that treatments in the pipeline can significantly improve the quality of life for patients and families.”
In an accompanying comment piece, Dr Francis Walker of Wake Forest Medical School, USA, praised the hard work of the TRACK-HD team and the volunteers who took part in the study: “The TRACK-HD team should be praised for this bold article. It takes substantial effort, teamwork, and genius to turn virtual roadmaps into rigorous, quantifiable timelines that can be used to test efficacy in future therapeutic trials.”
In January this year Professor Tabrizi and Dr Hensman attended the launch meeting for Neuromics, in Bareclona. Neuromics is a multi-million pound European Union funded project to investigate rare neurological diseases including Huntington’s disease.
The conference saw scientists, clinicians, patient representatives and policymakers from across Europe come together to discuss how research and next-generation technologies can improve diagnosis and develop new therapies for patients with rare diseases. The Neuromics projects will help ensure tangible benefits for patients by improving diagnosis rates and putting new potential therapies into the drug development pipeline.