[Copenhagen, Denmark] – A new study has revealed the long-term benefits of enzyme replacement therapy (ERT) for patients with alpha-mannosidosis, a rare genetic disorder that can cause severe physical and intellectual disabilities.
The study, which pooled data from two multicenter phase IIIb extension trials, followed patients for up to 12 years who received velmanase alfa, an enzyme replacement drug. The results, published in Journal of the Inherited Metabolic Diseases, demonstrated sustained improvements in motor function, respiratory health, and immune function.
“This study provides strong evidence that ERT is a valuable treatment option for patients with alpha-mannosidosis,” said [Nathalie Guffon]. “The long-term benefits observed in this study are particularly encouraging, as they suggest that ERT can significantly improve the quality of life for patients with this rare condition.”
Key findings from the study included:
- Improved motor function: Patients who received velmanase alfa showed improvements in walking distance and stair climbing ability.
- Enhanced respiratory health: Lung function stabilized or improved in many patients, reducing the risk of respiratory complications.
- Boosted immune function: The treatment helped to increase levels of immunoglobulin G (IgG), a type of antibody that is important for fighting infections.
- Sustained efficacy and safety: Velmanase alfa was generally well-tolerated, with a low rate of serious side effects.
The study’s findings offer hope for patients with alpha-mannosidosis and their families. As ERT continues to be studied and refined, it may become a more accessible and effective treatment option for this rare disorder.
Guffon et al. J Inherit Metab Dis. 2024;1–12.