LATE-ONSET POMPE DISEASE AND CEREBROVASCULAR MANIFESTATIONS
Spain477 participantsStarted 2020-05-01
Plain-language 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.
Who can participate
Age range
18 Years
Sex
ALL
See this in plain English?
AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.
Inclusion Criteria:
* 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.
Exclusion Criteria:
* Participants unwilling or unable to comply with study procedures or lacking the cognitive ability required to participate
Questions worth asking your doctor
Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.
1Based on my diagnosis and history, is this trial worth exploring for me — or is there a standard treatment we should try first?
2What does this trial's phase tell us about how much is already known about its safety and benefit?
3What would taking part actually involve for me — visits, tests, time, and travel?
4What are the known and possible risks or side effects I should weigh, and how would they be monitored?
5If this trial isn't the right fit, what other options or trials would you suggest I look into?
Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.
Questions for the trial coordinator
The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.
1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?
A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.
What they're measuring
1
Prevalence of severe cerebrovascular and aortic vascular malformations in late-onset Pompe disease