Testing positive for the HD gene expansion affects not only the life of the individual concerned, but also the lives of his or her family members. The need for support, treatment and clinical care varies depending on whether a person is at-risk, a pre-symptomatic HD expansion carrier, a family member or caregiver, while for HD patients, it depends on the stage of disease. Local patient advocacy groups are ready to provide information and support to all those affected, whatever their needs, while the Huntington’s Disease Youth Organization (HDYO) is tailored to helping young people.
Although we don’t yet have effective drugs to modify the progression of HD, there are therapeutic approaches that can help alleviate HD-related signs and symptoms and help improve the quality of life for HD patients and families. The EHDN clinical sites are centres that specialise in HD care. Many of these centres take part in HD clinical studies. Following local referral procedures, they can be contacted for medical advice on genetic testing, and clinical care and treatment. The EHDN collaborates closely with local and international HD patient advocacy groups and has regional representatives (language area coordinators) who speak the local language and can be contacted for information about EHDN activities in general, and local, country-level activities in particular. In addition, the EHDN working groups have developed guidelines for best practice in HD clinical care that are available free of charge. These guidelines might be helpful both to patients and families, and to their general practitioners.
EHDN believes that facilitating research and advancing knowledge on HD are two key steps towards the ultimate goal of finding treatments for HD. It implements this philosophy through a variety of initiatives:
- EHDN plays a key role in the two multinational observational studies of HD Registry and Enroll-HD, that are conducted at EHDN sites and are critically dependent on the participation of HD families.
- EHDN supports clinical trials that it has endorsed by facilitating and expediting trial start-up and recruitment.
- EHDN working groups function as a research platform for basic researchers, clinical professionals, lay association representatives and HD patients and family members, allowing them to work together on topics as diverse as genetic modifiers, quality of life and health economics.
- By publishing a newsletter three times a year, and organising biennial plenary meetings, it promotes collaboration and ensures that information is shared.
For HD research news, HDBuzz publishes lay-language articles that are written by HD experts and translated into almost all European languages.