Clinical Trial: LATE-ONSET POMPE DISEASE AND CEREBROVASCULAR MANIFESTATIONS

U.S., July 7 -- ClinicalTrials.gov registry received information related to the study (NCT07685314) titled 'LATE-ONSET POMPE DISEASE AND CEREBROVASCULAR MANIFESTATIONS' on June 29.

Brief Summary: Late-onset Pompe disease (LOPD) is an inherited metabolic disorder caused by deficiency of acid alpha-glucosidase (GAA). In addition to skeletal and respiratory muscle involvement, previous studies suggest that patients with LOPD may have an increased frequency of cerebrovascular and aortic vascular abnormalities, but available evidence is limited.

This multicenter, non-interventional study aims to determine whether pathogenic GAA mutations are associated with severe cerebrovascular or aortic vascular malformations. The study will include patient...