ECEESPE2025 Poster Presentations Bone and Mineral Metabolism (112 abstracts)
Patient-reported outcomes and quality of life in children and adults with hpp treated with asfotase alfa
Kathryn M. Dahir 1 , Lothar Seefried 2 , Gabriel Ángel Martos-Moreno 3 , Wolfgang Högler 4 , Priya Kishnani 5 , Cheryl Rockman-Greenberg 6 , Keiichi Ozono 7 , Peter R. Ebeling 8 , Anna Petryk 9 , Shona Fang 9 & Agnès Linglart 10
1Vanderbilt University Medical Center, Nashville, United States; 2University of Würzburg, Würzburg, Germany; 3Hospital Infantil Universitario Niño Jesús, Madrid, Spain; 4Johannes Kepler University Linz, Linz, Austria; 5Duke University Medical Center, Durham, United States; 6University of Manitoba, Manitoba, Canada; 7Osaka University, Osaka, Japan; 8Monash University, School of Clinical Sciences, Clayton, VIC, Australia; 9Alexion, AstraZeneca Rare Disease, Boston, United States; 10Paris-Saclay University, AP-HP and INSERM, Paris, France
JOINT1481
Introduction: Hypophosphatasia (HPP) is a rare disease caused by deficient tissue-nonspecific alkaline phosphatase activity. The objective of this analysis was to assess the effectiveness of asfotase alfa enzyme replacement therapy on patient-reported outcomes and quality of life (QoL) in patients with HPP.
Methods: Patients in the Global HPP Registry (data cutoff: July 2024) who received asfotase alfa treatment for ≥6 months after age 2 years were included. Pediatric Quality of Life Inventory (PedsQL) was administered to children (2-18 years). Brief Pain Inventory-Short Form (BPI-SF) and Short Form-36 version 2 Health Survey (SF-36v2) were administered to adults (≥18 years). Data from patients with baseline and ≥1 follow-up assessments within 2 years were analyzed. Significance of changes was assessed by 95% confidence intervals (calculated assuming normal distribution, α=0. 05).
Results: The study included 136 children and 202 adults. The most common baseline manifestations were dental manifestations among children (61%) and pain among adults (76%). Muscular manifestations were common (children: 49%; adults: 38%). Pain and/or QoL (PedsQoL/SF-36v2) data were available for 26 children and 63 adults, among whom mean scores improved significantly following treatment (Table). No mean scores worsened over time. Injection site reactions were the most common event of interest.
| Outcome | Baseline | 6 Months | 12 Months | 24 Months |
| BPI-SF pain severity, n | 61 | 49 | 41 | 28 |
| Mean (SD) | 5. 2 (1. 9) | 4. 5* (2. 2) | 4. 0* (2. 1) | 3. 9* (1. 7) |
| Change from baseline, mean (95% CI) | -0. 8 (-1. 2, -0. 3) | -1. 1 (-1. 6, -0. 6) | -0. 9 (-1. 5, -0. 3) | |
| BPI-SF pain interference, n | 61 | 50 | 40 | 28 |
| Mean (SD) | 5. 5 (2. 6) | 4. 6* (2. 8) | 4. 3* (2. 9) | 3. 7* (2. 4) |
| Change from baseline, mean (95% CI) | -0. 9 (-1. 5, -0. 3) | -1. 3 (-2. 0, -0. 6) | -1. 1 (-1. 9, -0. 2) | |
| SF-36v2 Physical Component Summary, n | 56 | 47 | 36 | 21 |
| Mean (SD) | 34. 7 (10. 2) | 36. 8 (9. 7) | 36. 9* (8. 6) | 40. 6 (10. 6) |
| Change from baseline, mean (95% CI) | 2. 2 (-1. 2, 5. 5) | 4. 6 (1. 8, 7. 4) | 3. 4 (-4. 1, 10. 9) | |
| SF-36v2 Mental Component Summary, n | 56 | 47 | 36 | 21 |
| Mean (SD) | 39. 4 (12. 5) | 41. 9 (12. 9) | 45. 7* (10. 4) | 47. 5 (9. 3) |
| Change from baseline, mean (95% CI) | 2. 1 (-1. 6, 5. 8) | 6. 1 (2. 2, 9. 9) | 4. 3 (-1. 9, 10. 5) | |
| PedsQL Total, n | 26 | 22 | 18 | 13 |
| Mean (SD) | 63. 1 (15. 8) | 73. 1* (16. 9) | 75. 4* (15. 8) | 77. 4* (13. 3) |
| Change from baseline, mean (95% CI) | 8. 8 (3. 3, 14. 4) | 11. 0 (2. 4, 19. 7) | 10. 1 (1. 8, 18. 4) | |
| *Significantly different from baseline based on 95% CIs. | ||||
Conclusions: Pain in adults and QoL in children with HPP significantly improved following asfotase alfa treatment.
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