CLINICIAN TESTING OF A PREFERENCE-BASED MEASURE TO TEST SENSITIVITY AND RELEVANCE FOR UTILITIES ESTIMATION IN EARLY HD

Author(s)

Katharina Buesch, PhD1, Prabal Jeet Khanna, MSc2, Mirja Koch, MD3, Leo MacFarlane, BSc, MSc4, Nicholas Adlard, MA, MBA, MSc5.
1Consultant, KJM Büsch Consulting GmbH, Zug, Switzerland, 2Novartis, Hyderabad, India, 3Novartis Pharma AG, Basel, Switzerland, 4Novartis AG, Dublin, Ireland, 5Novartis Pharma, Basel, Switzerland.
OBJECTIVES: Huntington’s disease (HD) is a rare, progressive neurodegenerative disorder characterized by motor, cognitive, and psychiatric symptoms, leading to substantial health-related quality of life (HRQoL) burden. Early stages are defined by measurable clinical signs prior to functional loss (i.e. HD-ISS stage 2), making subtle HRQoL changes difficult to detect. Preference-based measures like EQ-5D are widely used in health technology assessments. However, their ability to differentiate HRQoL changes in early HD stages is uncertain. To assess the sensitivity of EQ-5D in differentiating HRQoL impacts across HD-ISS Stage 2 and early Stage 3 using healthcare professional (HCP) input.
METHODS: HCPs proxy completed the EQ-5D domains (mobility, self-care, usual activities, pain/discomfort, anxiety/depression) for three hypothetical HD profiles: early measurable signs (Patient A), advanced cognitive/motor symptoms (Patient B), and early functional loss (Patient C). Responses were scored on a 0-4 scale (no impact to full impact). EQ-5D utilities were derived using country-specific value sets.
RESULTS: Anxiety/depression showed the highest perceived impact (57% of responses), yet domain scores were similar across health states. Mobility, self-care, and usual activities were frequently rated “no impact” for patients A and B, indicating limited differentiation between these stages. Ceiling effects were observed, with ‘no problems’ reported across all dimensions, suggesting poor sensitivity to subtle changes and potential underestimation of disease burden and treatment benefit. Calculated EQ-5D utilities demonstrated minimal differences between earlier and later HD-ISS stage 2 patient profiles, with only a modest decline at early HD-ISS stage 3.
CONCLUSIONS: HCP assessments indicate EQ-5D lacks sensitivity to capture HRQoL changes in early HD. Additional research—incorporating patient perspectives and methods such as vignette-based utility elicitation—is needed to better capture the impact of early-stage HD on quality of life.

Conference/Value in Health Info

2026-05, ISPOR 2026, Philadelphia, PA, USA

Value in Health, Volume 29, Issue S6

Code

PCR146

Topic

Patient-Centered Research

Topic Subcategory

Health State Utilities

Disease

SDC: Rare & Orphan Diseases

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