Late-onset Pompe Patients Untreated or Treated With rhGAA
Conditions
Brief summary
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.
Interventions
None listed
Sponsors
BioMarin Pharmaceutical
Study design
Observational model
CASE_CONTROL
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
18 Years to No maximum
Healthy volunteers
No
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
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| To evaluate the degree of change in respiratory and endurance endpoints over time in patients with Pompe disease | 264 Weeks |
Countries
Australia, Brazil, Canada, Greece, Ireland, Poland, Romania, Serbia, Singapore, Slovenia, South Korea, Spain, Taiwan
Outcome results
None listed