LATE-ONSET POMPE DISEASE AND CEREBROVASCULAR MANIFESTATIONS

Hospitales Universitarios Virgen del Rocío477 enrolled

Overview

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.

Study Type

OBSERVATIONAL

Enrollment

477

Conditions

Late-Onset Pompe Disease

Eligibility

Sex: ALLMin age: 18 Years

Medical Language ↔ Plain English

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

Locations (1)

Outcomes

Primary Outcomes

Prevalence of severe cerebrovascular and aortic vascular malformations in late-onset Pompe disease

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.

Time frame: Baseline (at study assessment)

Secondary Outcomes

Frequency of reduced GAA enzyme activity in participants with intracranial aneurysm or subarachnoid hemorrhage

To determine the frequency of reduced acid alpha-glucosidase (GAA) activity among participants with intracranial aneurysm or subarachnoid hemorrhage.

Time frame: Baseline

Frequency and distribution of vascular malformations in late-onset Pompe disease

Frequency and anatomical distribution of cerebrovascular and aortic vascular malformations identified in participants with genetically confirmed late-onset Pompe disease.

Time frame: Baseline

Severity of vascular lesions

To describe the type, location, and severity of cerebrovascular and aortic vascular abnormalities and their association with demographic, clinical, laboratory, and genetic characteristics.

Time frame: Baseline