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LATE-ONSET POMPE DISEASE AND CEREBROVASCULAR MANIFESTATIONS

NCT07685314 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 477

Last updated 2026-07-06

No results posted yet for this study

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 patients with confirmed LOPD and patients with intracranial aneurysms or subarachnoid hemorrhage. Clinical, laboratory, genetic, and imaging data will be collected to evaluate the frequency and characteristics of vascular abnormalities in LOPD and to identify previously undiagnosed cases presenting with vascular disease.

Conditions

  • Late-Onset Pompe Disease

Sponsors & Collaborators

  • Sanofi

    collaborator INDUSTRY

  • Hospitales Universitarios Virgen del Rocío

    lead OTHER

Eligibility

Min Age
18 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2020-05-01
Primary Completion
2025-04-16
Completion
2025-04-16

Countries

  • Spain

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT07685314 on ClinicalTrials.gov