A new clinical study assessing the safety and tolerability of alglucosidase alfa (Myozyme®) in patients with Pompe disease in a home-care infusion setting is now recruiting participants in Italy.

Children, adults, and older adults of both sexes with Pompe disease who are already being treated with alglucosidase alfa are eligible to take part in this noninterventional study sponsored by Sanofi.

The primary outcome measures of the trial include the number of participants with treatment-emergent adverse events, serious treatment-emergent adverse events, and infusion-associated reactions. Secondary outcome measures are patients’ personal satisfaction assessed using a satisfaction questionnaire and infusion compliance assessed as the number of missed infusions vs planned and/or return to the hospital setting with reasons.


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Read more about alglucosidase alfa

In patients with Pompe disease, also known as acid maltase deficiency or glycogen storage disease type 2, the alpha-glucosidase (GAA) enzyme is either deficient or absent due to mutations in the gene that codes for it. This enzyme plays a crucial role in cleaving glycogen to form glucose. In the absence of sufficient GAA enzyme, glycogen accumulates inside cells, especially cardiac and skeletal myocytes, and leads to damage.

Alglucosidase alfa has been assessed by the Committee for Medicinal Products for Human Use and granted authorization for marketing with recommendations for conditional use. Alglucosidase alfa is also approved by the US Food and Drug Administration to treat all patients with Pompe disease but includes a boxed warning with information on the potential risk of hypersensitivity reactions.

The trial is also assessing the safety of laronidase, another enzyme replacement therapy for the treatment of patients with mucopolysaccharidosis type 1 who are missing the L iduronidase enzyme, in a second cohort.

Alglucosidase alfa is an enzyme replacement therapy consisting of recombinant human GAA enzyme. The estimated study completion date is January 2, 2024.

Reference

A study to assess the safety of Myozyme® and of Aldurazyme® in male and female participants of any age group with Pompe disease or with mucopolysaccharidosis type I (MPS I) in a home-care setting (HomERT). US National Library of Medicine. Updated April 8, 2022. Accessed April 27, 2022.