The following article features coverage from the 17th Annual WORLDSymposium meeting. Click here to read more of MPR’s conference coverage.

According to a review presented at the 17th Annual WORLDSymposium, among patients with late-onset Pompe disease (LOPD), a need for safe and effective treatment is still needed, despite the use of enzyme replacement therapy (ERT).

While ERT has significantly advanced outcomes in patients with LOPD, it is not curative. To identify areas of unmet medical need and disease burden in these patients, study authors completed a literature review of Medline, OVID, Embase, Cochrane Library’s HTA and NHS EED databases,, as well Pompe association websites for articles published between January 1, 1995, and August 10, 2020, analyzing epidemiology data, treatment guidelines, and patient outcomes. The Cochrane methodology for literature reviews was followed, where 2 reviewers independently determined inclusion while a third reviewer resolved discordance.

Of the total 730 articles originally identified, 68 were chosen for full-text review, and 26 articles were selected to be included in the analysis of patients with non-infantile LOPD. Of the 2508 patients included, 81.04% were receiving ERT. Analysis of the studies determined that outcomes assessed included the 6-Minute Walk Test, forced vital capacity, ventilation assistance need as well as type of assistance, status of ambulation, and quality of life.

Results of the literature review showed that ERT follow-up studies failed to demonstrate durable clinical benefit despite high adherence to treatment. However, the reported treatment durations in the studies (mean 3.2 years) were too short to inform on the possible life-long benefits associated with ERT. As for safety, adverse reactions associated with ERT were found to be mild to moderate in clinical significance.

“This focused-literature review characterizes the current real-world treatment patterns and outcomes in LOPD patients treated within a clinical setting,” the study authors stated. They added, “There is a considerable unmet need for a safe and effective treatment in management of the key symptoms experienced by patients with LOPD.”

Disclosure: Some authors have declared affiliations with or received funding from the pharmaceutical industry. Please refer to the original study for a full list of disclosures.


Kurashige I, Baek A, Pichardo A, et al. Enzyme replacement therapy treatment patterns and patient outcomes in late-onset Pompe disease. Presented at: 17th Annual WORLDSymposium; February 8-12, 2020. Abstract 129.