Background Identifying determinants of cost of illness and health-related quality of life (HRQoL) is critical for doctors, health policy decision makers and payers to make appropriate decisions.

Aims To evaluate patient health status, patient and caregiver (HRQoL), cost of illness, and drivers of costs and HRQoL in Huntington's disease (HD).

Methods Euro-HDB is a comprehensive, European observational study being conducted in eight European countries (including Italy and France) to assess the cost of illness of HD. Two validated self-reported questionnaires are used: one for patients and one for their caregiver. The patient questionnaire includes the Huntington Self-Assessment Instrument, a comprehensive and specific tool that assesses clinical characteristics, HRQoL and healthcare resource utilization. The 5-dimension EuroQol questionnaire and 36-item Short Form Health Survey are also included to allow for HRQoL comparisons with other disorders.

Results The study is ongoing. To date, 201 patients and their caregivers have been enrolled in France and 124 in Italy. About half of patients are male (51% and 47%, respectively); average age is 57 and 54 years. All levels of disease severity are represented. Over half of patients have no occupational activity (58% and 80%). The main drivers of costs are productivity loss and patient absence from work. In France, hospitalization and nursing home costs are the main sources of medical costs. For more severely affected patients, medical resource utilization diminishes while caregiver involvement increases significantly (the shift is greater in Italy than France). In both countries, patient and caregiver HRQoL are affected greatly and to the same extent, regardless of the instrument used. For patients, physical, mental and social HRQoL domains are all seriously affected.

Conclusions Euro-HDB is the first study to comprehensively asses the cost of illness of HD and shows that it is associated with significant costs.