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LATE-ONSET POMPE DISEASE AND CEREBROVASCULAR MANIFESTATIONS

CompletedN/A

Sponsor: Hospitales Universitarios Virgen del Rocío

Conditions: Late-Onset Pompe Disease

Countries: Spain

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.

Eligibility overview

Sex: ALL

Age: 18 Years to —

Healthy volunteers: No

Study type: OBSERVATIONAL

Eligibility criteria

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)

Seville, Spain