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NCT Number: NCT07685314

LATE-ONSET POMPE DISEASE AND CEREBROVASCULAR MANIFESTATIONS

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.

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Key information

Conditions

Late-onset Pompe Disease Brain Diseases Brain Diseases, Metabolic Brain Diseases, Metabolic, Inborn Carbohydrate Metabolism, Inborn Errors Central Nervous System Diseases Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn Glycogen Storage Disease Glycogen Storage Disease Type II Lysosomal Storage Diseases Lysosomal Storage Diseases, Nervous System Metabolic Diseases Metabolism, Inborn Errors Nervous System Diseases Nutritional and Metabolic Diseases

Age range

18 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

Hospital Universitario Virgen del Rocío

Seville, 41013, Spain

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

Primary outcomes

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

    Time frame: 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 outcomes

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

    Time frame: Baseline

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

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

    Time frame: Baseline

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

  3. Severity of vascular lesions

    Time frame: Baseline

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

Sponsors and collaborators

Lead sponsor

Hospitales Universitarios Virgen del Rocío

Other

Collaborators

  • Sanofi

Registry information

Important dates

Study start
2020
Primary completion
2025
Study completion
2025
First posted
Jul 6, 2026
Registry last updated
Jul 6, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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