A Prospective, Noninterventional, Observational Study of Late-Onset Pompe Disease

BioMarin Pharmaceutical30 enrolled

Overview

Study 701-901, a multicenter, multinational, longitudinal, non-interventional observational study in subjects, at least 18 years old, diagnosed with late-onset Pompe disease prospectively collects data to understand clinical progression in terms of respiratory function, symptomology, genotype, biochemistry, endurance and selected subject-reported measures for 24 weeks followed by a 240 week additional observation period for up to 100 subjects.

Study Type

OBSERVATIONAL

Enrollment

Conditions

Late-onset Pompe Patients Untreated or Treated With rhGAA

Eligibility

Sex: ALLMin age: 18 Years

Medical Language ↔ Plain English

Inclusion Criteria: * Willing and able to provide written informed consent after the nature of the study has been explained and prior to any study-related procedure * Diagnosed with late-onset Pompe disease based on current or previous genomic testing and/or endogenous GAA activity * At least 18 years of age at study entry * Willing and able to comply with all study procedures Exclusion Criteria: * Requires non-invasive ventilatory support while awake and in the upright position * Concurrent disease, medical condition, or extenuating circumstance that, in the opinion of the investigator, might compromise study completion or data collection * Unable to perform baseline efficacy assessments

Locations (24)

Westmead Hospital, Dept. of Genetic Medicine

Westmead, New South Wales, Australia

Women's and Children's Hospital

Adelaide, South Australia, Australia

Outcomes

Primary Outcomes

To evaluate the degree of change in respiratory and endurance endpoints over time in patients with Pompe disease

Time frame: 264 Weeks

Data from ClinicalTrials.gov

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