A Prospective, Noninterventional, Observational Study of Late-Onset Pompe Disease
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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.
Condition or disease
Late-onset Pompe Patients Untreated or Treated With rhGAA
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Ages Eligible for Study:
18 Years and older (Adult, Senior)
Sexes Eligible for Study:
Accepts Healthy Volunteers:
Late-onset Pompe Disease patients untreated or treated with rhGAA
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
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
Glycogen Storage Disease Type II
Lysosomal Storage Diseases, Nervous System
Brain Diseases, Metabolic, Inborn
Brain Diseases, Metabolic
Central Nervous System Diseases
Nervous System Diseases