What this study looked at
The mucopolysaccharidoses (MPS) are a group of rare inherited disorders in which faulty enzymes leave the body unable to break down complex sugars, causing progressive damage across many organs. Enzyme replacement therapy (ERT) is available for most types but is not always well implemented. This survey gathered responses from 19 experts across 14 Southern and Eastern European countries to describe how MPS is managed in the region, with a particular focus on MPS IVA.
Key takeaways
- The centres surveyed managed a high number of MPS patients and provided a high level of care, with MPS II the most common type followed by MPS IVA.
- Adherence to European follow-up guidelines for MPS IVA was generally adequate, though some assessments were difficult because of a shortage of specialists skilled in the condition.
- Availability of enzyme replacement therapy was broadly in line with other European regions, but regulatory, organisational and reimbursement hurdles remained demanding.
Why it matters
Simplifying the barriers to treatment and expanding education for specialists could help patients across the region start therapy as early as possible.
