Quality of Life in Adults with Late-onset Pompe Disease
Author Information
Author(s): Lumgair Holly, Bashorum Lisa, MacCulloch Alasdair, Minas Elizabeth, Timmins George, Bratkovic Drago, Perry Richard, Stone Medi, Blazos Vasileios, Conti Elisabetta, Saich Raymond
Primary Institution: Amicus Therapeutics (United Kingdom)
Hypothesis
How does self-reported LOPD status relate to quality of life?
Conclusion
Progressing LOPD leads to a loss of quality of life related to time, use of aids, evolving symptoms, and patient perspectives.
Supporting Evidence
- 56% of participants reported a declining LOPD status.
- Physical functioning scores were lower for those on enzyme replacement therapy for longer than 15 years.
- Participants requiring mobility aids reported higher limitations in daily life.
Takeaway
People with late-onset Pompe disease often feel worse over time, especially if they need help to move or breathe, but some still find ways to feel okay.
Methodology
A 2-part observational study using the SF-36 and a survey conducted online.
Potential Biases
Potential bias in self-reported data and participant selection.
Limitations
The study may not fully capture the experiences of all individuals with LOPD due to its observational nature and sample size.
Participant Demographics
Adults with late-onset Pompe disease from Australia, France, Italy, and the Netherlands.
Statistical Information
P-Value
<0.05
Statistical Significance
p<0.05
Digital Object Identifier (DOI)
Want to read the original?
Access the complete publication on the publisher's website