LATE-ONSET POMPE DISEASE AND CEREBROVASCULAR MANIFESTATIONS

Status

Completed

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT07685314

Enrollment

477

Registered

2026-07-06

Start date

2020-05-01

Completion date

2025-04-16

Last updated

2026-07-06

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Late-Onset Pompe Disease

Keywords

Late-Onset Pompe Disease, Glycogen Storage Disease Type II, Acid Alpha-Glucosidase Deficiency

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 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.

Interventions

None listed

Study design

Observational model

COHORT

Time perspective

OTHER

Eligibility

Sex/Gender

ALL

Age

18 Years to No maximum

Healthy volunteers

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

Design outcomes

Primary

Measure	Time frame	Description
Prevalence of severe cerebrovascular and aortic vascular malformations in late-onset Pompe disease	Baseline (at study assessment)	To determine the prevalence and characteristics of severe cerebrovascular and aortic vascular abnormalities in participants with genetically confirmed late-onset Pompe disease and to evaluate the association between pathogenic GAA mutations and vascular involvement.

Secondary

Measure	Time frame	Description
Frequency of reduced GAA enzyme activity in participants with intracranial aneurysm or subarachnoid hemorrhage	Baseline	To determine the frequency of reduced acid alpha-glucosidase (GAA) activity among participants with intracranial aneurysm or subarachnoid hemorrhage.
Frequency and distribution of vascular malformations in late-onset Pompe disease	Baseline	Frequency and anatomical distribution of cerebrovascular and aortic vascular malformations identified in participants with genetically confirmed late-onset Pompe disease.
Severity of vascular lesions	Baseline	To describe the type, location, and severity of cerebrovascular and aortic vascular abnormalities and their association with demographic, clinical, laboratory, and genetic characteristics.

Countries

Spain

Outcome results