NCT07685314Completed
LATE-ONSET POMPE DISEASE AND CEREBROVASCULAR MANIFESTATIONS
Source: ClinicalTrials.gov · Last updated 6 Jul 2026
Brief summary (registry, in English)
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.
- Status (registry)
- Completed
- Study type
- Observational
- Enrollment
- 477 (actual)
- First submitted
- 29 Jun 2026
- Start date
- 1 May 2020
- Primary completion date
- 16 Apr 2025
- Lead sponsor
- Hospitales Universitarios Virgen del Rocío
- Diseases
- Pompe disease
- NCT number
- NCT07685314
What you commit to
- Study type: Observational
- Participants enrolled: 477
- From 1 May 2020 to the primary completion date, 16 Apr 2025
- 1 site in 1 country
- Visits and tests: ask the trial team, the registry does not list them
Built from the registry fields of ClinicalTrials.gov. It describes the study, not your situation.
Who cannot take part
Copied verbatim from ClinicalTrials.gov and grouped by topic. Only the trial team decides who can take part.
Other
- Participants unwilling or unable to comply with study procedures or lacking the cognitive ability required to participate
Who the study is looking for
- Adults aged 18 years or older.
- Written informed consent provided.
- Documented diagnosis of late-onset Pompe disease (LOPD), or patients with ruptured or unruptured intracranial aneurysm or subarachnoid hemorrhage (with or without an associated aneurysm).
- Willing and able to comply with study procedures and possessing adequate cognitive ability.
Age in the registry: 18 years to - · Sex: All · Does not accept healthy volunteers
Sites (1)
Sites in registry order. Pick your city on the disease page to sort them by distance.
| Site | City | Country | Site status |
|---|---|---|---|
| Hospital Universitario Virgen del Rocio Coordinator of this site? Confirm its status | Seville | Spain | Unknown status |
This page is information, not medical advice. Discuss any trial with your doctor.