Design and Early Insights From the Pre-HDBOI Study: A Multicountry Real-World Assessment of the Burden in Pre-Motor Manifest Huntington’s Disease
Author(s)
Vijay Bonthapally, PhD1, Idaira Rodriguez Santana, PhD2, Claudia Mighiu, MSc2, Astri Arnesen, BA3, Hemant Vyas, PhD1, Bogdan Balas, PhD4.
1uniQure, Lexington, MA, USA, 2Prime HCD, Knutsford, United Kingdom, 3European Huntington Association, Søgne, Norway, 4uniQure, Basel, Switzerland.
1uniQure, Lexington, MA, USA, 2Prime HCD, Knutsford, United Kingdom, 3European Huntington Association, Søgne, Norway, 4uniQure, Basel, Switzerland.
OBJECTIVES: Huntington’s disease (HD) is a progressive neurodegenerative condition with motor, cognitive, and psychiatric sequelae. While the burden of manifest HD is documented, evidence describing the clinical, economic, and quality-of-life impact during the pre-motor manifest phase is scarce. Characterization of this population is increasingly critical, given the emergence of potential disease-modifying therapies. The objective is to describe the methodological framework and an interim progress update of Pre-HDBOI, a multinational study assessing the multidimensional burden of people with pre-motor manifest HD (PwPHD).
METHODS: Pre-HDBOI is a cross-sectional burden-of-illness study conducted across six countries (USA and EU-5). Data are being collected via two sources: (1) the PwPHD Survey, which captures individual-level data from PwPHD (including perimanifest, prodromal, and at-risk individuals) on symptomatology, healthcare resource use, quality of life, work productivity and activity impairment (WPAI), and treatment preferences; and (2) the Healthcare Professional Survey (HCP-S), which captures clinician-reported estimates on symptom prevalence, diagnostic and treatment patterns, and unmet needs in the PwPHD population. Study design was informed by an expert advisory board. The target sample size is 160 PwPHD and 20 HCPs. Data analysis is descriptive, with subgroup comparisons if sample size permits. Fieldwork completion expected by July 2025.
RESULTS: To date, 91% of the target sample has been recruited. Preliminary analysis of interim data suggests considerable health resource utilization, with most participants consulting multiple specialists and a high proportion accessing reproductive services—exceeding normative benchmarks from general population cohorts, including higher-than-expected levels of work productivity impairment.
CONCLUSIONS: Pre-HDBOI is among the first international efforts to characterize the burden of pre-motor manifest HD. Early insights reveal a substantial burden frequently overlooked before formal HD diagnosis. Study findings will inform early access strategies, health economic models, and future valuation of emerging interventions.
METHODS: Pre-HDBOI is a cross-sectional burden-of-illness study conducted across six countries (USA and EU-5). Data are being collected via two sources: (1) the PwPHD Survey, which captures individual-level data from PwPHD (including perimanifest, prodromal, and at-risk individuals) on symptomatology, healthcare resource use, quality of life, work productivity and activity impairment (WPAI), and treatment preferences; and (2) the Healthcare Professional Survey (HCP-S), which captures clinician-reported estimates on symptom prevalence, diagnostic and treatment patterns, and unmet needs in the PwPHD population. Study design was informed by an expert advisory board. The target sample size is 160 PwPHD and 20 HCPs. Data analysis is descriptive, with subgroup comparisons if sample size permits. Fieldwork completion expected by July 2025.
RESULTS: To date, 91% of the target sample has been recruited. Preliminary analysis of interim data suggests considerable health resource utilization, with most participants consulting multiple specialists and a high proportion accessing reproductive services—exceeding normative benchmarks from general population cohorts, including higher-than-expected levels of work productivity impairment.
CONCLUSIONS: Pre-HDBOI is among the first international efforts to characterize the burden of pre-motor manifest HD. Early insights reveal a substantial burden frequently overlooked before formal HD diagnosis. Study findings will inform early access strategies, health economic models, and future valuation of emerging interventions.
Conference/Value in Health Info
2025-11, ISPOR Europe 2025, Glasgow, Scotland
Value in Health, Volume 28, Issue S2
Code
EE321
Topic
Economic Evaluation, Patient-Centered Research
Topic Subcategory
Cost/Cost of Illness/Resource Use Studies
Disease
Neurological Disorders, Rare & Orphan Diseases