Survival and Factors Affecting Adults with Pompe Disease
Author Information
Author(s): Güngör Deniz, Vries Juna M, Hop Wim CJ, Reuser Arnold JJ, van Doorn Pieter A, van der Ploeg Ans T, Hagemans Marloes LC
Primary Institution: Erasmus MC University Medical Center
Hypothesis
What is the survival rate of adults with Pompe disease not receiving enzyme replacement therapy (ERT) and what factors are associated with their survival?
Conclusion
Untreated adults with Pompe disease have a higher mortality rate than the general population, with disability levels being significant prognostic factors.
Supporting Evidence
- Median survival after diagnosis was 27 years.
- Five-year survival for patients without a wheelchair or respiratory support was 95%.
- Patients with both wheelchair and respiratory support had a five-year survival of 74%.
- Mortality in adults with Pompe disease is higher than in the general population.
Takeaway
People with Pompe disease can live a long time, but many have serious health problems that can make them die younger than other people.
Methodology
Data were collected in a prospective international observational study from 268 patients between 2002 and 2009, using survival analyses and statistical methods.
Potential Biases
Differences in disability levels between countries may have affected survival estimates.
Limitations
The study may have overestimated survival due to left-truncated data and potential loss to follow-up.
Participant Demographics
Median age at study entry was 48 years, with a range from 19 to 79 years; 53% were female.
Statistical Information
P-Value
p<0.01
Statistical Significance
p<0.05
Digital Object Identifier (DOI)
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