|Locations - U.K. - Study Site Sheffield
Royal Hallamshire Hospital
The Royal Hallamshire Hospital
Switchboard: +44 (0)114 2711900
To speak to our HD Research Coordinator, call Anya Kholkina on: 0114 305 3726
The Royal Hallamshire Hospital is situated a mile from the city on the Trust's central campus. Nearly 4,500 staff work at the Royal Hallamshire in a wide variety of clinical and non-clinical roles.
For more information about the Royal Hallamshire Hospital and how to get there click here
.Nature of service:
A multidisciplinary HD clinic was established at the Royal Hallamshire Hospital, Sheffield, UK in 2002. The main aim of this clinic is to improve the care of HD in South Yorkshire by bringing together the expertise of different specialists. The clinic was set up by Dr Oliver Bandmann (Consultant Neurologist) and Dr Oliver Quarrell (Consultant in Clinical Genetics). We are now fortunate enough to have a DeNDRoN research nurse, and a genetics nurse as well as established links with Neuropsychology and Liaison Psychiatry (Dr Paul Gill).Clinic Times:
The multidisciplinary HD clinic runs on Tuesday Afternoons twice a month.
Patients should be referred to this clinic by their GP or a specialist. The referral should be sent to:
Dr. Oliver Bandmann
The Royal Hallamshire Hospital
For enquiries about hospital appointments, please contact Dr Bandmann’s secretary Kate Lovatt-Clark (0114 2713005)
In addition to the symptomatic clinic at the Royal Hallamshire Hospital, the clinical genetics service offers home visits by genetic counsellors and clinic appointments at the Sheffield Children’s Hospital and the District General Hospitals in Barnsley, Doncaster, Worksop (Bassetlaw) Chesterfield, Rotherham and Grimsby.
We see families for the following reasons:
- Following a new diagnosis in a family
- Concerns about being at risk for HD
- Predictive testing
- Pre-natal tests
- Pre-implantation genetic diagnosis (PGD) for HD as part of a satellite service of Guy’s Hospital.
Huntington’s disease research in Sheffield:
1. ENROLL-HD Study; RECRUITING
We are participating in the ENROLL-HD study. This is a global observational study, collecting clinical data to help
better understand Huntington's Disease. It will monitor how the disease appears and changes over time in different people. the study is open to people who either have HD or are at-risk.
The ENROLL-HD study clinics are currently run on Tuesday afternoons, at Clinical Research Facility (O-Floor), Royal Hallamshire Hospital. Families who would like to participate in ENROLL-HD study can also be seen in OPD2, Northern General Hospital on some of the Monday or Wednesday afternoons and at the District General Hospitals in Chesterfield, Grimsby, Scunthorpe. We are currently setting up clinics in the District General Hospitals in Barnsley, Doncaster, Bassetlaw and Rotherham. Please let us know your requirements.
If you would like to participate in the ENROLL-HD study or would like any further information, please contact:
Clinical Research Coordinator
Sheffield Clinical Genetics Department
OPD2, Northern General Hospital
Herries Road Drive
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:
5. Information for families
- 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.
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.