Clinical Research; Research Networks; Laboratory Based Research

REGISTRY:
. . . . . . . . . . .
Registry is the first study initiated and coordinated by the European Huntington’s disease Network. This is the largest project undertaken so far for Huntington’s disease and can involve individuals at any stage of the disease, including those who know they carry the gene for HD but are not showing symptoms. Within the UK, over 20 different locations are involved in this study, and more than 100 sites across Europe. See the EHDN and UKHDN websites to find out more about the sites. Registry is an observational study which aims to collect data from a wide range of individuals affected by and asymptomatic for Huntington’s disease. It is hoped that through developing a large database of clinical data that the nature and progression of the disease can be more fully understood. Furthermore, clinical trials of promising therapies and detection of biomarkers (for disease onset and progression) can be co-ordinated safe in the knowledge that there will be a sufficient number of participants willing and eligible to take part. If you would like more information about this trial, please contact the EHDN UK coordinators Olivia Handley or Jenny Naji.

NEURAL TRANSPLANTATION:
. . . . . . . . . . . . . . . . . . . . . . . . . . . . . .
A multi-centre project is underway in the UK looking at the potential therapeutic effects of neural transplantation in Huntington’s disease. Cardiff is the co-ordination centre for this project. In total there are five centres involved in this study (Belfast, Cambridge, Cardiff, London Hammersmith, Manchester). Clinical assessment is carried out at all sites except for London Hammersmith who perform the PET scanning for this trial. At present, neurosurgery is carried out in Cambridge.  This is a pilot trial and hence at this early stage in the research, the true clinical benefit of the procedure remains to be determined. Currently this trial is paused as new EU regulations on the collection and preparation of human tissue have required that a new GMP (Good manufacturing Practice) laboratory was established.  The building work for this laboratory is now complete and the facility is undergoing work towards MHRA accreditation.  Updates will follow on this website.  If you would like more information about this study, please contact: the Brain Repair Group, Huntington’s disease Transplantation Project.

CAPACITY AND DECISION MAKING:
. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .
Most people with Huntington’s disease will lose capacity to determine their on going care before they die and it has been argued that they should be given the opportunity to determine whether or not they would like to make an advance directive or appoint a lasting power of attorney whilst still able to do so. In this study key stakeholders including people with Huntington’s disease and carers will help to determine an optimal pathway of care through participating in focus groups and being interviewed. Prototype care pathways will be piloted with people with Huntington’s disease and gene positive individuals. Participants will provide feedback through further interviews and focus groups resulting in the development of a final pathway that can be further evaluated.

BIOMAKERS:
. . . . . . . . . . . . .
There are many reasons for wanting to identify biomarkers. For example, as drugs become available for treatment of Huntington’s disease, it will be important to have reliable indicators that the disease process has started to inform the timing of treatment. Moreover, the identification of such markers will be important for a better understanding of the underlying disease process. Although there has been considerable advances in our understanding of the cellular events resulting from expression of the mutant protein, it is by no means complete, and the identification and characterisation of new biochemical abnormalities can be expected to contribute to this. Understanding the pathogenesis of Huntington’s disease will in turn provide targets for drug development.

PREDICT:
. . . . . . . . . .
'Neurobiological Predictors of Huntington’s Disease (PREDICT) is a study conducted by the Huntington Study Group (HSG).  PREDICT is currently the largest clinical research study of predictors of Huntington’s disease onset in known mutation carriers who do not yet exhibit symptoms (asymptomatic) and signs of Huntington’s disease according to the best judgment of physicians experienced in assessing people affected by Huntington’s disease. To date, little research has been done on asymptomatic individuals and we hope this study will help us to detect the earliest signs of Huntington’s disease, so future drug studies can target treatment that may slow the progression of or prevent Huntington’s disease. For more information, please contact Jenny Naji.

AMARIN, LAX 101:
. . . . . . . . . . . . . . . . . .
The efficacy of a neuroprotective compound (Ethyl-EPA) is being assessed in 15 early stage HD patients attending the clinic in Cardiff. This study forms part of larger European collaboration co-ordinated by Amarin Pharmaceuticals and governed under the auspices of the European HD Network. The trial will continue for 6 months with Amarin, and a further 12 months with the European HD Network. Outcome measures for efficacy include the UHDRS: motor, function, psychiatry and cognitive. Recruitment for this study is now complete.

LANGUAGE AND HD:
. . . . . . . . . . . . . . . . . . . . .
The detection of a language deficit in HD will assist not only the understanding of cognitive dysfunction in HD but also redefine the role of the striatum in language. It is possible that a language deficit will also impact on other cognitive aspects of the disease, for example memory impairment, attentional deficits, and difficulty with planning and organisational skills. There is also the outstanding issue of whether linguistic abilities deteriorate with disease progression and hence compromise a patient's capacity and decision making abilities in the later stages of the condition. Our aim is to collect clinical and MRI brain scan data with the hope of establishing not only the nature of the language deficits in HD, but also how these deficits may relate to the pathology of the disease.
Study: Population sample: 15 HD patients, 15 presymptomatic patients, 15 controls.
Duration:1 visit per participant for 3 hour session:
Method: UHDRS rating scale, Neuropsychological battery including measures of linguistic and non-linguistic tasks of rule application, MRI brain scan
This work will be carried out in collaboration with Dr Bachoud Levi’s HD team (Creteil, France).

GENETIC COUNSELING AND FAMILY COMMUNICATION:
. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .
These are both issues that are relevant to HD and have been studied in Cardiff for a number of years. With colleagues in the Health Communication Research Centre in Cardiff University, we have looked at the ways in which professionals help genetic counseling clients to think through the implications of predictive genetic testing before having a test. A further area of investigation is how genetic counseling clients pass important information to their relatives. Research into both these areas is important in setting the atmosphere and tone for the genetic counselling clinic, and projects in these areas are continuing.

PHYSIOTHERAPY FOR HD:
. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .
It has been suggested that physiotherapy intervention for people with HD should focus on teaching strategies that help an individual to circumvent malfunctioning structures with the use of cueing and attentional strategies. There is however little conclusive evidence relating to the effectiveness of such interventions and the impact thereof on mobility and community independence.
We are therefore undertaking a physiotherapy research project to examine all the relevant involved factors that influence mobility and independent living in a person’s usual environment. This will assist in the development of the best possible community based mobility measures of treatment success and possible training and physiotherapy interventions. People with Huntington’s disease may also trip or fall. There is not always an obvious cause for this and it may just happen unexpectedly.  
Falls can in themselves be worrying and if injury is caused this can lead to extra problems for the person with Huntington’s disease. We would like to look more closely at this.
The research will take place over the next 3 years; we are also planning to use the findings from this study to plan future cognitive and physical training programs.
This study will be based in the Research Centre for Clinical Kinaesiology (RCCK) Department of Physiotherapy, Cardiff University. The study is being carried by: Dr Monica Busse (Department of Physiotherapy), Professor Anne Rosser and Dr Olivia Handley (Department of Neurology) and will run alongside the existing Euro-HD “Registry” study.

CIRCADIAN RHYTHMS STUDY:
. . . . . . . . . . . . . . . . . . . . . . . . . . . . . .
There is some evidence to suggest that sleep patterns are disrupted in Huntington’s disease and that this may reflect changes in circadian rhythms. This study will aim to characterise the nature, prevalence and impact of sleep disturbance in Huntington’s disease and the relationship of these to circadian rhythmicity by comparing HD patients with sleep disturbance and those without sleep disturbance.