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Mortality in patients with Sanfilippo syndrome
Christine Lavery1, Chris J Hendriksz2, Simon A Jones3
1Society of Mucopolysaccharide Diseases, MPS House, Repton Place, White Lion Road, Amersham, HP7 9LP, UK. c.lavery@mpssociety.org.uk.
Orphanet Journal of Rare Diseases
|October 25, 2017
Summary
Sanfilippo syndrome (MPS III) longevity has improved for type A patients, with pneumonia as a leading cause of death. Further research is needed for effective therapies to improve survival and quality of life.
Area of Science:
- Genetics and rare diseases
- Biochemistry and metabolic disorders
- Clinical research and epidemiology
Background:
- Sanfilippo syndrome (mucopolysaccharidosis type III; MPS III) is a rare inherited lysosomal storage disorder.
- It involves enzyme deficiencies affecting heparan sulfate metabolism, leading to organ dysfunction and premature death.
- The study focuses on subtypes A, B, and C, analyzing their natural course.
Purpose of the Study:
- To understand the natural course and survival trends of Sanfilippo syndrome (MPS III) subtypes A, B, and C.
- To identify changes in longevity and causes of death over time.
- To highlight the need for improved therapeutic interventions.
Main Methods:
- Analysis of 113 death certificates from 1977-2007 for patients with Sanfilippo syndrome types A, B, and C in the UK.
- Statistical analysis of mean age at death and survival rates.
- Identification of leading causes of mortality.
Main Results:
- Mean age at death for Sanfilippo syndrome type A was 15.22 years, type B was 18.91 years, and type C was 23.43 years.
- Significant increase in longevity observed in Sanfilippo syndrome type A patients (p=0.012).
- Pneumonia identified as the leading cause of death for types A and B.
Conclusions:
- Longevity has significantly improved for Sanfilippo syndrome type A patients over recent decades.
- Respiratory tract infections, particularly pneumonia, remain a primary cause of mortality.
- Urgent development of disease-specific therapies is crucial to enhance patient quality of life and survival.
