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

Abstract

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.

Keywords: emotional wellbeing; late-onset Pompe disease; patient perception; patient-reported outcomes; physical functioning; quality of life.

Figure 1.. SF-36 Scores by Time on Enzyme Replacement Therapy

Abbreviations: ERT, enzyme-replacement therapy; SF-36, 36-item short-form survey.

Figure 2.. SF-36 Scores by (A) Self-Described Health Status and (B) Self-Reported LOPD Status

Abbreviations: LOPD, late-onset Pompe disease; SF-36, 36-item short-form survey.

Figure 3.. SF-36 Scores by (A) Mobility Assistance Status (Ambulatory vs Nonambulatory) and (B) Ventilation Status

Abbreviation: SF-36, 36-item short-form survey.

Figure 4.. SF-36 Scores by (A) Use of Mobility and/or Ventilation Aids and (B) Ventilation Frequency

Abbreviation: SF-36, 36-item short-form survey.

Figure 5.. Most Frequent (A) and Most Concerning or Burdensome (B) Self-Reported Symptoms of People With LOPD

Abbreviation: LOPD, late-onset Pompe disease. Specific scoliosis symptoms were not explicitly explored.