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Pompe disease may raise risk of brain aneurysms, new study investigates

NCT ID NCT07685314

Knowledge-focused Sponsor: Hospitales Universitarios Virgen del Rocío Source: ClinicalTrials.gov ↗

What the study statuses mean

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Recruitment status, easiest to join first

Recruiting now
This trial is taking on new participants right now.
Not yet recruiting
Registered, but not yet taking participants.
By invitation only
Not open to general applications. Only people the study team invites can take part.
Paused
Paused for now. It may or may not start again.
Ongoing
Running, but no longer taking on new participants.
Completed This study
The trial has finished. Results may not be published yet.
Stopped early
Stopped early, before it reached the end. That can be for many reasons, including safety.
Cancelled
Cancelled before anyone took part.

Expanded access (not trials)

Expanded access
Not a trial. This treatment can be requested outside a study, case by case, for people who qualify.
Expanded access (paused)
Not a trial. The treatment can normally be requested outside a study, but is unavailable right now.
Expanded access (ended)
Not a trial. The treatment could once be requested outside a study, but no longer can.
Approved
The treatment has been approved, so it is available normally rather than through this programme.

When the status isn't known

Details not published
The full record has not been published yet, so there is little to show here.
Status unknown
This status has not been confirmed recently, so it may be out of date.

First seen Jul 06, 2026 · Last updated Jul 07, 2026 · Updated 1 time

Summary

This study investigates whether people with late-onset Pompe disease have a higher risk of severe blood vessel problems in the brain and aorta. Researchers will collect medical and genetic data from adults with Pompe disease and from those who have had a brain aneurysm or bleeding. The goal is to understand if the genetic mutation causing Pompe disease also makes blood vessels more prone to malformations, which could improve screening and early detection.

What this could mean

Our plain-language read of the trial. This is informational only, not medical advice or a prediction.

What this could lead to
If a strong link is found, it could lead to better screening for brain aneurysms in people with Pompe disease, potentially preventing strokes.
What could go wrong
This is an observational study, not a treatment trial. It may find no clear connection, or the link may be too weak to change clinical practice.

This is an AI summary of the original study and may miss details. Read our disclaimer.

Study facts

What this study's own registry entry says, in plain language.

Participants

477 people

The number who actually took part.

Started

May 2020

Finished

Apr 2025

Lead sponsor

Other sponsor

The registry's catch-all category, for sponsors it does not file as a company, a government agency, or a research network.

Who can take part

This study's own entry requirements. Only the study team can say for certain whether you qualify.

Who is studied

The study includes two adult cohorts recruited in Spain: (1) patients with documented late-onset Pompe disease (LOPD) recruited through Spanish Neuromuscular Reference Units (CSUR), and (2) patients with ruptured or unruptured intracranial aneurysms or subarachnoid hemorrhage recruited from Interventional Neuroradiology Units. Participants are enrolled after providing informed consent and undergo clinical, imaging, and enzymatic evaluation to investigate the prevalence and spectrum of vascular abnormalities associated with late-onset Pompe disease.

Ages

18 years and older

Sex

Anyone

Healthy volunteers

Not accepted

This study is not open to healthy volunteers. The entry requirements below say who it is open to.

Show the full entry requirements

Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.

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

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Conditions

The condition(s) this trial relates to.

brain aneurysm glycogen storage disease due to acid maltase deficiency, late-onset Glycogen Storage Disease Type II subarachnoid hemorrhage

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

Late-onset Pompe disease

Contacts and locations

Locations

  • Hospital Universitario Virgen del Rocío

    Seville, 41013, Spain

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