What this study looked at
Mucopolysaccharidosis type I (MPS I) is an inherited disorder in which early diagnosis and prompt treatment strongly affect how children do. This observational study drew on the MPS I Registry to see whether, over the 15 years from 2003 to 2017, the age at diagnosis and the time to first treatment had improved for children with attenuated or severe disease.
Key takeaways
- For attenuated MPS I, the time from diagnosis to starting enzyme replacement therapy fell sharply, from about 5.6 years before or during 2004 to 2.4 months in 2014 to 2017.
- Despite this, the median age at diagnosis for attenuated disease did not improve, staying between about 4.5 and 6 years throughout the period.
- For severe MPS I treated with stem cell transplantation, both the age at diagnosis (under one year) and the time to first treatment (under three months) stayed consistently low across the 15 years.
Why it matters
Treatment now begins far more quickly once attenuated MPS I is recognised, but children are still diagnosed late, so better efforts at early recognition are needed to ensure treatment starts at the optimal time.
