Pompe Disease: a Clinical, Diagnostic, and Therapeutic Overview.

ABSTRACT:

Purpose of review

This review summarizes the clinical presentation and provides an update on the current strategies for diagnosis of Pompe disease. We will review the available treatment options. We examine newly approved treatments as well as upcoming therapies in this condition. We also provide commentary on the unmet needs in clinical management and research for this disease.

Recent findings

In March 2015, Pompe disease was added to the Recommended Uniform Screening Panel (RUSP) and since then a number of states have added Pompe disease to their slate of diseases for their Newborn Screening (NBS) program. Data emerging from these programs is revising our knowledge of incidence of Pompe disease. In 2021, two randomized controlled trials involving new forms of enzyme replac

SUBMITTER: Stevens D 

PROVIDER: S-EPMC10035871 | biostudies-literature | 2022 Nov

REPOSITORIES: biostudies-literature