Huntington Disease (HD) is a rare, inherited and highly complex neuro-degenerative disorder, affecting both the mind and body. However, limited evidence is available on comprehensive assessment of the burden of HD from a multinational perspective. The HDBOI study will assess the overall clinical, economic, and humanistic burden of HD experienced by patients, caregivers, health systems, and society. This analysis will bring insight on possible savings associated with the introduction of disease-modifying therapies.

The data collection will be at the patient, carer and physician-level, retrospective, cross-sectional and cover multiple centres across US and EU-5. The design of the study protocol and questionnaires relied on a literature review on existing burden of illness studies and clinical management guidelines. The study is governed by an Expert Review Group (ERG) consisting of clinicians, allied health professionals, academics and patient advocacy representatives. These experts provided feedback and recommendations on the study design (e.g. on the patients’ inclusion/exclusion criteria, stratified sampling, physicians recruitment criteria) and they will be consulted be throught the study.

The literature review found that there are only two studies providing costs for HD at the national level (one for UK and one for US). The HDBOI study aims to recruit 170 physicians reporting 1420 patient clinical records with an expected return of 527 patient and carer surveys across US and EU-5. Clinical burden outcomes include symptomatology, comorbidities, and motor, cognitive, and behavioral function impact. Economic burden outcomes include direct, indirect, and societal costs, and will be analysed as per-patient costs over different disease stages. Humanistic burden outcomes includes generic and HD-specific QoL measures among patients and carers.

The HDBOI study has initiated and data collection is ongoing. This study will examine the burden of illness of HD in order to strengthen the evidence base of unmet medical needs for the community.