Changes in motor function, quality of life, and clinical manifestations in patients with Alpha-mannosidosis treated with Velmanase Alfa: Data from the French Étoile Alpha registry
Nathalie Guffon, Karine Mention-Mulliez, Francis Gaches, Daniela Garavaglia, Fabrizio Salomone, Bénédicte Héron · 2026
Read Changes in motor function, quality of life, and clinical manifestations in patients with Alpha-mannosidosis treated with Velmanase Alfa: Data from the French Étoile Alpha registry by Nathalie Guffon, Karine Mention-Mulliez, Francis Gaches, Daniela Garavaglia, Fabrizio Salomone, Bénédicte Héron (2026) in the Tower of Babel, a free online library of public-domain works preserved in clean, searchable text. No sign-up. The full text is served as a plain-text file at a predictable URL, where text is present: https://antarctic-labs.com/tower-of-babel/pmc-13571468.txt.
Description
Nathalie Guffon and co-authors report French registry data on a rare storage disease treated by replacing a missing enzyme. In the disease, a sugar-like waste builds up in cells, harming movement, lungs, and thinking. The drug is the only targeted treatment.
Sixteen patients in France were followed in the registry. Treatment began at a median age near sixteen, and ran for a median of just over three years. Doctors logged walking and stair tests, lung measures, and daily function over time. The report asks whether gains seen in trials hold in routine care. Rare diseases rely on such registries, since trials stay small. The French data add real-world weight to the drug's record.
Catalog record
| CREATOR | Nathalie Guffon, Karine Mention-Mulliez, Francis Gaches, Daniela Garavaglia, Fabrizio Salomone, Bénédicte Héron |
|---|---|
| YEAR | 2026 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 41 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |