Prevalence and Survival of Mucopolysaccharidosis I in the UK
Author Information
Author(s): David Moore, Martin J. Connock, Ed Wraith, Christine Lavery
Primary Institution: University of Birmingham
Hypothesis
What is the prevalence and survival rate of Mucopolysaccharidosis I in the UK?
Conclusion
The birth prevalence of MPS I in England and Wales is 1.07/100,000 and the median survival for MPS I patients is 11.6 years.
Supporting Evidence
- The birth prevalence of MPS I in England and Wales was found to be 1.07/100,000 births.
- Median survival for all MPS I patients was estimated to be 11.6 years.
- Patients with the Hurler phenotype had a median survival of 8.7 years.
- Survival curves for Hurler patients who received bone marrow transplants were significantly different from those who did not.
Takeaway
Mucopolysaccharidosis I is a rare disease affecting about 1 in 100,000 births in the UK, and patients typically live around 11.6 years.
Methodology
Analysis of prevalence and patient survival using a longitudinal data set maintained by the Society for Mucopolysaccharide Diseases (UK).
Potential Biases
Potential detection bias due to more severe syndromes being identified more readily.
Limitations
Follow-up was insufficient to determine median survival of the milder phenotypes.
Participant Demographics
Patients categorized by syndrome: 143 Hurler, 41 Hurler-Scheie, and 12 Scheie.
Statistical Information
P-Value
0.0004
Confidence Interval
95% CI: 9.5 to 13.7
Statistical Significance
p = 0.0004
Digital Object Identifier (DOI)
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