Open-label extension study following the Late-Onset Treatment Study (LOTS) of alglucosidase alfa

Mol Genet Metab. 2012 Nov;107(3):456-61. doi: 10.1016/j.ymgme.2012.09.015. Epub 2012 Sep 17.


Objective: Late-onset Pompe disease is a progressive, debilitating, and often fatal neuromuscular disorder resulting from the deficiency of a lysosomal enzyme, acid α-glucosidase. This extension study was conducted to determine the durability of the efficacy and safety of alglucosidase alfa observed over a period of 78 weeks in the Late-Onset Treatment Study (LOTS).

Methods: Patients who completed the LOTS study were eligible for this open-label extension study and received alglucosidase alfa 20mg/kg biweekly for an additional 26 weeks. The primary efficacy assessments were the distance walked during a 6-minute walk test and the percentage of predicted forced vital capacity in the upright position. Data are reported as change from patient's original LOTS baseline for each measure.

Results: The benefit of alglucosidase alfa treatment observed in LOTS at Week 78 was, in general, maintained at Week 104. The mean increase in distance walked measured 28.2 ± 66.5m from LOTS baseline to Week 78 and 21.3 ± 78.0m from LOTS baseline to Week 104. The mean change from baseline in percentage of predicted forced vital capacity was 1.3% ± 5.7% from LOTS baseline to Week 78 and 0.8% ± 6.7% from LOTS baseline to Week 104. Treatment-related adverse events were mainly infusion-associated reactions observed in 35% of patients. No deaths or anaphylactic reactions were observed during the extension study.

Conclusions: The LOTS Extension study showed that patients treated with alglucosidase alfa for up to 104 weeks maintained the improved walking distance and stabilization in pulmonary function observed in the first 78 weeks of alglucosidase alfa therapy.

Publication types

  • Multicenter Study
  • Randomized Controlled Trial
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Age of Onset
  • Aged
  • Cross-Sectional Studies
  • Double-Blind Method
  • Enzyme Replacement Therapy*
  • Female
  • Glycogen Storage Disease Type II / diagnosis
  • Glycogen Storage Disease Type II / drug therapy*
  • Glycogen Storage Disease Type II / enzymology
  • Glycogen Storage Disease Type II / pathology*
  • Health Status
  • Humans
  • Infant, Newborn
  • Infusions, Intravenous
  • Male
  • Middle Aged
  • Motor Activity / drug effects
  • Neonatal Screening
  • Placebos
  • Surveys and Questionnaires
  • alpha-Glucosidases / metabolism
  • alpha-Glucosidases / pharmacology
  • alpha-Glucosidases / therapeutic use*


  • Placebos
  • GAA protein, human
  • alpha-Glucosidases