The effectiveness of enzyme replacement therapy for juvenile-onset Pompe disease: a systematic review

ConclusionsInterpretation of the findings was hindered by the lack of good quality evidence. The available data suggests that some JOPD patients may benefit in the short term from ERT through improved muscle strength and a reduced need for assisted ventilation. A focus by clinicians on improved and more consistent evidence collection, and use of study designs tailored to rare conditions, would provide more definitive results.
Source: Journal of Inherited Metabolic Disease - Category: Internal Medicine Source Type: research