European Huntington’s Disease Network – a collaborative platform for improving the lives of people affected by Huntington’s disease
By Juliana Bronzova, MD, DSc
European Huntington's Disease Network
When it comes to rare genetic disorders, the search for effective treatments requires collaboration across borders, languages and cultures; between health professionals, scientists and those affected. This is as true for Huntington’s disease (HD)—an autosomal dominant neurodegenerative disorder with high or full penetrance—as it is for any other rare genetic disorder. The fact that HD is a lifelong, familial condition with a long duration (21 years, on average, from the emergence of diagnostic motor signs to death) makes it an excellent candidate for systematic, long-term follow-up spanning several generations.
The European Huntington’s Disease Network (EHDN) is a not-for-profit organisation that was established in 2004 to put in place the infrastructure needed to facilitate that collaboration and follow-up. The Network grew out of the European Huntington’s Disease Initiative (EHDI), a phase III trial of the drug Riluzole that involved more than 500 patients in nine European countries, and that demonstrated for the first time that it was feasible to conduct large-scale clinical trials on HD in Europe.
The goal of the EHDN is to advance knowledge of HD by supporting scientific and clinical efforts to develop and test therapeutic interventions that will improve the quality of life of those affected. Sponsored by the private, not-for-profit research organisation, CHDI Foundation Inc., EHDN has succeeded in establishing an infrastructure that includes a well-characterised patient recruitment database, IT tools, online training and certification, and support staff. It has also developed an IT platform which supports a forum where all those with an interest in HD may discuss the issues that concern them, and where they may do so in most European languages.
Today, EHDN has more than 1,400 regular members and 160 associate members in 37 countries, and more than 160 study sites distributed across 18 European countries. It is directed by an Executive Committee, and supported by a Scientific and Bioethics Advisory Committee, both of which are elected by its members. It currently employs native speakers of 14 languages as Language Area Coordinators, and coordinating staff including IT experts who support a web portal with integrated data capture and storage facilities. Other staff provide training and ensure the qualifications of clinical raters and the quality of clinical data.
The EHDN has three main types of activity:
1. Science. The Network has recently devised a scientific strategy to complement its traditional working group-initiated research. Armed with this strategy, its Scientific Planning Committee aims to focus efforts on currently unmet needs, in particular with respect to translational research questions that stand to further the integration of basic and clinical research. EHDN runs REGISTRY, an open-ended, observational, prospective, longitudinal, multinational cohort study of HD which involves annual assessments of individuals with manifest HD, unaffected individuals known to carry the HD mutation or those at risk of carrying the HD mutation, and controls. An important milestone was reached in September 2012 with the recruitment of the 10,000th participant. In 2013, REGISTRY will evolve into a similar but global observational study, ENROLL-HD. To date, more than 70 basic science and clinical research projects have made use of REGISTRY data.
2. Clinical research. EHDN’s Clinical Trial Task Force has established an infrastructure that includes site profiles, trial support services, and the clinical development expertise needed to foster partnerships with industrial sponsors and any other groups who are developing interventions for HD.
3. Care. The Network invests a great deal of effort in improving and implementing standards of care for HD. In February 2012 it published a comprehensive set of guidelines for clinicians in the open-access journal Neurodegenerative Disease Management. These are available at this website.
To complement its existing training activities, EHDN has recently established a Fellowship Exchange Programme, which has been made possible through the support of CHDI. Starting in 2013, the programme will provide the opportunity for three young clinicians with an interest in HD, whether they be neurologists or psychiatrists, to learn, share knowledge and practices, and establish communication and collaboration with EHDN members from established Network study sites.
You can find further information about the Network and its activities at: www.euro-hd.net*.
* Our website is in the process of being upgraded and more features will be accessible in 2013.
About Juliana Bronzova, MD, DSc
Juliana Bronzova, MD, DSc, joined the Central Coordination of the European Huntington's Disease Network in January 2012, bringing with her 20 years of professional experience that has combined clinical practice with academic research and clinical development in Industry. She is also a member of The Movement Disorder Society.