Exploring Quality of Life in Adults Living With Late-onset Pompe Disease: A Combined Quantitative and Qualitative Analysis of Patient Perceptions from Australia, France, Italy, and the Netherlands
**Background:** Late-onset Pompe disease (LOPD) is a rare, autosomal recessive metabolic disorder that is heterogeneous in disease presentation and progression. People with LOPD report a significantly lower physical, psychological, and social quality of life (QoL) than the general population. **Obj...
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| Format: | Article |
| Language: | English |
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Columbia Data Analytics, LLC
2025-01-01
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| Series: | Journal of Health Economics and Outcomes Research |
| Online Access: | https://doi.org/10.36469/001c.126018 |
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| author | Holly Lumgair Lisa Bashorum Alasdair MacCulloch Elizabeth Minas George Timmins Drago Bratkovic Richard Perry Medi Stone Vasileios Blazos Elisabetta Conti Raymond Saich |
| author_facet | Holly Lumgair Lisa Bashorum Alasdair MacCulloch Elizabeth Minas George Timmins Drago Bratkovic Richard Perry Medi Stone Vasileios Blazos Elisabetta Conti Raymond Saich |
| author_sort | Holly Lumgair |
| collection | DOAJ |
| description | **Background:** Late-onset Pompe disease (LOPD) is a rare, autosomal recessive metabolic disorder that is heterogeneous in disease presentation and progression. People with LOPD report a significantly lower physical, psychological, and social quality of life (QoL) than the general population.
**Objectives:** This study investigated how individuals’ self-reported LOPD status (improving, stable, declining) relates to their QoL. Participant experiences such as use of mobility or ventilation aids, caregivers, symptomology, and daily life impacts were also characterized.
**Methods:** A 2-part observational study was conducted online between October and December 2023 using the 36-item short-form tool (SF-36) and a survey. Adults with LOPD (N=41) from Australia, France, Italy, and the Netherlands were recruited.
**Results:** Participants reporting “declining” LOPD status (56%) had lower physical functioning SF-36 scores than those reporting as “stable” or “improving.” Those self-reporting as stable or improving often described an acceptance of declining health in their responses. Physical functioning scores were generally stable in respondents who had been receiving enzyme replacement therapy (ERT) for 1-15 years, but those who had received ERT for >15 years had lower scores. Requiring ventilation and mobility aids had additive negative impacts on physical functioning. Difficulty swallowing, speaking, and scoliosis were the most burdensome symptoms reported by those on ERT for >15–25 years.
**Discussion:** These results demonstrate the humanistic burden of LOPD; through declining physical functioning SF-36 scores over increasing time and increased use of aids, and also through factors related to self-reported LOPD status (where declining status was associated with lower scores) and symptomology variances. Taken holistically, these areas are valuable to explore when informing optimized care. Among a largely declining cohort, even those not self-reporting decline often assumed future deterioration, highlighting the need for improved therapies and the potential to initiate or switch ERT based on evolving symptomology and daily life impacts.
**Conclusion:** Our results indicate that progressing LOPD leads to loss of QoL in ways that relate to time, use of aids, evolving symptomology, and the patient’s own perspective. A holistic approach to assessing the individual can help ensure relevant factors are investigated and held in balance, supporting optimized care. |
| format | Article |
| id | doaj-art-cc520e45af1c4f2a860e0895ef4a2175 |
| institution | Kabale University |
| issn | 2327-2236 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | Columbia Data Analytics, LLC |
| record_format | Article |
| series | Journal of Health Economics and Outcomes Research |
| spelling | doaj-art-cc520e45af1c4f2a860e0895ef4a21752025-02-10T16:13:31ZengColumbia Data Analytics, LLCJournal of Health Economics and Outcomes Research2327-22362025-01-01121Exploring Quality of Life in Adults Living With Late-onset Pompe Disease: A Combined Quantitative and Qualitative Analysis of Patient Perceptions from Australia, France, Italy, and the NetherlandsHolly LumgairLisa BashorumAlasdair MacCullochElizabeth MinasGeorge TimminsDrago BratkovicRichard PerryMedi StoneVasileios BlazosElisabetta ContiRaymond Saich**Background:** Late-onset Pompe disease (LOPD) is a rare, autosomal recessive metabolic disorder that is heterogeneous in disease presentation and progression. People with LOPD report a significantly lower physical, psychological, and social quality of life (QoL) than the general population. **Objectives:** This study investigated how individuals’ self-reported LOPD status (improving, stable, declining) relates to their QoL. Participant experiences such as use of mobility or ventilation aids, caregivers, symptomology, and daily life impacts were also characterized. **Methods:** A 2-part observational study was conducted online between October and December 2023 using the 36-item short-form tool (SF-36) and a survey. Adults with LOPD (N=41) from Australia, France, Italy, and the Netherlands were recruited. **Results:** Participants reporting “declining” LOPD status (56%) had lower physical functioning SF-36 scores than those reporting as “stable” or “improving.” Those self-reporting as stable or improving often described an acceptance of declining health in their responses. Physical functioning scores were generally stable in respondents who had been receiving enzyme replacement therapy (ERT) for 1-15 years, but those who had received ERT for >15 years had lower scores. Requiring ventilation and mobility aids had additive negative impacts on physical functioning. Difficulty swallowing, speaking, and scoliosis were the most burdensome symptoms reported by those on ERT for >15–25 years. **Discussion:** These results demonstrate the humanistic burden of LOPD; through declining physical functioning SF-36 scores over increasing time and increased use of aids, and also through factors related to self-reported LOPD status (where declining status was associated with lower scores) and symptomology variances. Taken holistically, these areas are valuable to explore when informing optimized care. Among a largely declining cohort, even those not self-reporting decline often assumed future deterioration, highlighting the need for improved therapies and the potential to initiate or switch ERT based on evolving symptomology and daily life impacts. **Conclusion:** Our results indicate that progressing LOPD leads to loss of QoL in ways that relate to time, use of aids, evolving symptomology, and the patient’s own perspective. A holistic approach to assessing the individual can help ensure relevant factors are investigated and held in balance, supporting optimized care.https://doi.org/10.36469/001c.126018 |
| spellingShingle | Holly Lumgair Lisa Bashorum Alasdair MacCulloch Elizabeth Minas George Timmins Drago Bratkovic Richard Perry Medi Stone Vasileios Blazos Elisabetta Conti Raymond Saich Exploring Quality of Life in Adults Living With Late-onset Pompe Disease: A Combined Quantitative and Qualitative Analysis of Patient Perceptions from Australia, France, Italy, and the Netherlands Journal of Health Economics and Outcomes Research |
| title | Exploring Quality of Life in Adults Living With Late-onset Pompe Disease: A Combined Quantitative and Qualitative Analysis of Patient Perceptions from Australia, France, Italy, and the Netherlands |
| title_full | Exploring Quality of Life in Adults Living With Late-onset Pompe Disease: A Combined Quantitative and Qualitative Analysis of Patient Perceptions from Australia, France, Italy, and the Netherlands |
| title_fullStr | Exploring Quality of Life in Adults Living With Late-onset Pompe Disease: A Combined Quantitative and Qualitative Analysis of Patient Perceptions from Australia, France, Italy, and the Netherlands |
| title_full_unstemmed | Exploring Quality of Life in Adults Living With Late-onset Pompe Disease: A Combined Quantitative and Qualitative Analysis of Patient Perceptions from Australia, France, Italy, and the Netherlands |
| title_short | Exploring Quality of Life in Adults Living With Late-onset Pompe Disease: A Combined Quantitative and Qualitative Analysis of Patient Perceptions from Australia, France, Italy, and the Netherlands |
| title_sort | exploring quality of life in adults living with late onset pompe disease a combined quantitative and qualitative analysis of patient perceptions from australia france italy and the netherlands |
| url | https://doi.org/10.36469/001c.126018 |
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