CHARACTERIZING THE HUMANISTIC AND ECONOMIC BURDEN OF HYPOPHOSPHATASIA: A CROSS-SECTIONAL MULTINATIONAL STUDY IN CANADA, COLOMBIA, FRANCE, TURKEY AND THE UK
Author(s)
Remon Helmy, RPh, MSc, PhD, MBA1, Lothar Seefried, MD2, Raja Padidela, MD3, Laura Elisabeth Smith van Carroll, MSc4, Linda Toews, -5, Sofia C. Lopes, PhD6, Sandra Flierl, MSc7, Joana Nóbrega, PharmD6, Daniel Staub, DVM8, Philippe Laramee, PhD9.
1HEOR Associate Director, Alexion, AstraZeneca Rare Disease, Baar, Switzerland, 2University of Wuerzburg, Wuerzburg, Germany, 3Royal Manchester Children’s Hospital, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, United Kingdom, 4Metabolic Support UK, Manchester, United Kingdom, 5Soft Bones Canada, Lethbridge, AB, Canada, 6IQVIA, Lisbon, Portugal, 7IQVIA, Basel, Switzerland, 8Alexion, AstraZeneca Rare Disease, Baar, Switzerland, 9Alexion, AstraZeneca Rare Disease, Barcelona, Spain.
1HEOR Associate Director, Alexion, AstraZeneca Rare Disease, Baar, Switzerland, 2University of Wuerzburg, Wuerzburg, Germany, 3Royal Manchester Children’s Hospital, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, United Kingdom, 4Metabolic Support UK, Manchester, United Kingdom, 5Soft Bones Canada, Lethbridge, AB, Canada, 6IQVIA, Lisbon, Portugal, 7IQVIA, Basel, Switzerland, 8Alexion, AstraZeneca Rare Disease, Baar, Switzerland, 9Alexion, AstraZeneca Rare Disease, Barcelona, Spain.
OBJECTIVES: Hypophosphatasia (HPP) is a rare, inherited metabolic disorder requiring sustained caregiver support and substantial healthcare utilisation, yet real-world evidence on its humanistic and economic burden remains limited. This study characterised these burdens in patients with HPP and caregivers.
METHODS: A cross-sectional quantitative survey was conducted among patients (n=41) and caregivers (n=21) across Canada, Colombia, France, Turkey and the UK. Measures included sociodemographic characteristics, healthcare utilisation, productivity loss, out-of-pocket costs, caregiving time, and patient/caregiver health-related quality of life (HRQoL). HRQoL was measured using the EQ-5D-5L utility score (0, death; 1, perfect health; UK value set) and visual analogue scale (VAS; 0, worst health; 100, best health).
RESULTS: Median patient age was 31 (min-max: 5-63) years; 20% (n=8) were children (median age 10 [min-max: 5-11]), 5% (n=2) were adolescents (median age 16 [min-max: 15-17]), and 76% (n=31) were adults (median age 37 [min-max: 18-63]); 54% (n=22) were female. Among patients aged ≥16 years (n=32), 31% (n=10) worked part-time and 25% (n=8) full-time. Patients reported a mean (SD) of 3.1 (4.7) HPP-related regular outpatient visits in the preceding 6 months. Unplanned visits were most frequently to dentists (49%), primary care physicians (44%), and rheumatologists (24%). On average, patients employed in the preceding 6 months (n=20) missed 5.0 (min-max: 0-30) days and had 10.2 (min-max: 0-30) reduced-productivity days per month. Out-of-pocket costs were driven by home/vehicle modifications, equipment and transportation. Caregivers (n=21) provided a mean (min-max) of 107.5 (1.0-168.0) hours of care per week. Among patients aged ≥16 years (n=32), mean (SD) utility and VAS scores were 0.6 (0.3) and 60.4 (24.9), respectively. Among caregivers, mean (SD) utility and VAS scores were 0.9 (0.1) and 86.5 (10.9), respectively.
CONCLUSIONS: HPP is associated with impaired patient HRQoL, high healthcare utilisation, and significant caregiver burden.
METHODS: A cross-sectional quantitative survey was conducted among patients (n=41) and caregivers (n=21) across Canada, Colombia, France, Turkey and the UK. Measures included sociodemographic characteristics, healthcare utilisation, productivity loss, out-of-pocket costs, caregiving time, and patient/caregiver health-related quality of life (HRQoL). HRQoL was measured using the EQ-5D-5L utility score (0, death; 1, perfect health; UK value set) and visual analogue scale (VAS; 0, worst health; 100, best health).
RESULTS: Median patient age was 31 (min-max: 5-63) years; 20% (n=8) were children (median age 10 [min-max: 5-11]), 5% (n=2) were adolescents (median age 16 [min-max: 15-17]), and 76% (n=31) were adults (median age 37 [min-max: 18-63]); 54% (n=22) were female. Among patients aged ≥16 years (n=32), 31% (n=10) worked part-time and 25% (n=8) full-time. Patients reported a mean (SD) of 3.1 (4.7) HPP-related regular outpatient visits in the preceding 6 months. Unplanned visits were most frequently to dentists (49%), primary care physicians (44%), and rheumatologists (24%). On average, patients employed in the preceding 6 months (n=20) missed 5.0 (min-max: 0-30) days and had 10.2 (min-max: 0-30) reduced-productivity days per month. Out-of-pocket costs were driven by home/vehicle modifications, equipment and transportation. Caregivers (n=21) provided a mean (min-max) of 107.5 (1.0-168.0) hours of care per week. Among patients aged ≥16 years (n=32), mean (SD) utility and VAS scores were 0.6 (0.3) and 60.4 (24.9), respectively. Among caregivers, mean (SD) utility and VAS scores were 0.9 (0.1) and 86.5 (10.9), respectively.
CONCLUSIONS: HPP is associated with impaired patient HRQoL, high healthcare utilisation, and significant caregiver burden.
Conference/Value in Health Info
2026-11, ISPOR Europe 2026, Vienna, Austria
Value in Health, Volume 29, Issue 12S
Code
EE413
Topic
Economic Evaluation, Patient-Centered Research, Real World Data & Information Systems
Topic Subcategory
Cost/Cost of Illness/Resource Use Studies, Work & Home Productivity - Indirect Costs
Disease
Diabetes/Endocrine/Metabolic Disorders (including obesity), Musculoskeletal Disorders (Arthritis, Bone Disorders, Osteoporosis, Other Musculoskeletal), Rare & Orphan Diseases