Sheffield Clinical Genetics Department

OPD2, Northern General Hospital

Herries Road Drive
Sheffield
S5 7AU

Tel: 0114 305 3726
Fax: 0114 273 7467
email: Anya.Kholkina@sch.nhs.uk
                                              
                                                                          
2. Drug Trials
We have currently completed four trials.  You will be informed accordingly as more trials become available.
 
3. Skin biopsies to investigate mitochondrial function in HD
Abnormal function of cells in the body is not limited to the brain in HD – distinct abnormalities are also present in particular skin cells (fibroblasts) of patients with HD. Dr Bandmann and co-workers are now taking skin biopsies from HD patients to better characterize these abnormalities. Any abnormality we find in the skin cells is likely to be present in the brain as well. We are therefore assessing the function of the “power generators” (mitochondria) in HD skin cells in detail. We hope to subsequently be able to use the HD skin cells with the abnormal mitochondrial function to identify drugs which will help us to make these power generators work normally again in HD.

4. Juvenile Huntington’s Disease
Dr Quarrell is  lead facilitator for the Juvenile Huntington’s Disease Working Group of the European HD Network.  The projects being developed include:

• Developing new rating scales: Only a few patients with HD have very early onset but the current rating scales used in drug trials are not suitable for those with this form of the condition. Currently, there is no medication to slow down the disease process. We want to use this time to develop appropriate rating scales so that young people can be included in future studies of such treatments.
• An international study of the needs of carers: We are collecting interviews from carers of juvenile HD patients from a number of different countries and will compare their experiences with the information we have already gathered from families within the UK. We want to know if the experiences are the same or whether there are important differences within the countries of Europe and North America.
• We are currently running a project looking at Services for Juvenile Huntington's Disease. We are taking a mixed method approach and are currently coming to the end of the first phase of the project. This phase has been focused on interviewing the families of young people living with JHD, as well as some young people themselves from across the UK. We have discussed with them which services they are currently accessing, where the deficit in care management is, and how they would feel about attending a virtual MDT set up through secure telecommunications technology. We are almost a third of the way through the project and we hope that by the end we will be able to better understand the needs of our patients and their families, and to have developed a more efficient way of developing this care management system.
• We have summarised information on Juvenile HD in a book called ‘Juvenile Huntington’s Disease and other trinucleotide repeat disorders’, published by  Oxford University Press 2009.
• There are no guidelines available for the management of juvenile HD so we are conducting a survey of the medications currently used to help manage these young patients.

5. Information for families
Dr Quarrell published a second edition of ‘Huntington’s Disease – the facts’. published by Oxford University Press 2008.  This book contains information about HD for families and carers. The new edition contains quotes from families and professionals to supplement the information about HD. For more information please go the HDA website.