The EHDN supports HD research and clinical development at all stages, from basic and applied science projects in cells, worms, fruit flies and mice, to the development of new treatment strategies, clinical assessment tools and best clinical practice, to site feasibility assessment, site selection and patient recruitment for clinical trials. These are all necessary steps towards the fulfilment of the EHDN’s mission.
ETHICAL AND LEGAL CONSIDERATIONS
Ethical and legal considerations constitute an important part of any research project in particular if it involves human participants. Here we have collated links to information and documentation of relevance when designing your project.
CLINICAL DATA AND BIOSAMPLES
The EHDN is running the global HD observational study Enroll-HD in collaboration with CHDI. Enroll-HD ensures worldwide standardized collection of high quality coded, longitudinal clinical data and biosamples from HD family members and controls that are easily accessible for researchers. Enroll-HD is the successor study of Registry, which was the first pan-European HD observational study run by the EHDN. In the Registry study more than 14,000 individuals participated, meaning that approximately one third of the European HD population was involved in the study. This fantastic achievement was made possible thanks to the collaboration and enthusiasm of all the clinical sites and HD families involved in the project. Now, with thousands of participants recruited to Registry and Enroll-HD, the EHDN is in a position to provide coded, longitudinal clinical data and biosamples to HD scientists, and collaborate with industry to facilitate site selection, recruitment and support for clinical trials.
In addition, the genome-wide association study carried out by the Genetic Modifiers of Huntington’s Disease (GeM-HD) consortium is complete. In this study, more than eight million common SNPs were tested in 1,835 Registry participants, and the results are open to all qualified researchers. More information about the data and the results of the first study can be found here.
Twice a year the EHDN awards seed funds up to a limit of €50,000 to fast-track pilot studies that will form of the basis of applications for larger grants from other organisations or to estimate the statistical power needed for larger studies (e.g., in clinical trials). The EHDN grant manager is also available to help identify funding calls, write grant applications and facilitate new research collaborations, and she gives her assistance free of charge.
It is important to be able to describe with accuracy the clinical signs and symptoms of HD in order to follow the course of the disease and assess the efficacy of treatments. The EHDN working groups have developed three clinical assessment tools for this purpose so far: the Huntington’s Disease Clinical Characteristics (HDCC), the Quality of Life questionnaire for HD (QoL-HD) and the short version of the Problem Behaviours Assessment (PBA-s).
The HDCC is a qualitative assessment of the broad spectrum of HD symptoms and signs. The tool was developed by EHDN researchers to be applied by HD medical professionals as part of the core assessments in Registry. The HDCC is now also a core assessment in the global observational study Enroll-HD.
The QoL-HD, the original version of which was developed by American psychologist John Flanagan in the 1970s, has been adapted to many chronic illnesses to provide a meaningful way of determining the impact of healthcare when no cure is available. The EHDN Quality of Life working group adapted the questionnaire for use with HD patients and families.
The EHDN behavioural phenotype working group developed the PBA-s as a semi-quantitative assessment tool for the behavioural symptoms of HD. The PBA-s is a core assessment in Enroll-HD and raters are required to attend an approved training session before administering it.
UHDRS MOTOR CERTIFICATION
The UHDRS motor assessment is a core assessment in Registry and Enroll-HD, as well as in numerous clinical trials. To reduce inter-rater variability, the EHDN motor phenotype working group has developed an annual certification for all EHDN motor raters. If you would like to be a certified EHDN motor rater, but do not yet have a login for the EHDN website, please fill in this contact form.
The EHDN working groups have developed a number of evidence-based guidelines with a view to optimising and standardising the clinical care of HD patients worldwide. In February 2010, the physiotherapy working group published the first edition of the physiotherapy guidance document. This was edited into a short, practical guidance document that has since been translated into most European languages. In February 2012, the standard of care working group published a series of clinical care guidelines, and in March 2013 the genetic testing working group published a revised version of its predictive genetic testing guidelines.
CLINICAL TRIAL SERVICES
In order to access further EHDN clinical trial services, a study must be endorsed by the EHDN Executive Committee. Such an endorsement is a statement to the HD community that a protocol is scientifically and ethically acceptable. It is highly influential within that community, being used by participants and sites to guide them in their decision about whether or not to participate in a trial. Once a study has been endorsed, the EHDN offers a range of services to facilitate start-up and recruitment: feasibility assessment, operational support, expedited recruitment and rater training.
Since the creation of the EHDN in 2005, EHDN members and collaborators have published more than 70 scientific papers in peer-reviewed journals. A full list of publications is available here.