A Prospective, Noninterventional, Observational Study of Late-Onset Pompe Disease
- Conditions
- Late-onset Pompe Patients Untreated or Treated With rhGAA
- Registration Number
- NCT02221362
- Lead Sponsor
- BioMarin Pharmaceutical
- 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.
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- TERMINATED
- Sex
- All
- Target Recruitment
- 30
- 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
- Unable to perform baseline efficacy assessments
Study & Design
- Study Type
- OBSERVATIONAL
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method To evaluate the degree of change in respiratory and endurance endpoints over time in patients with Pompe disease 264 Weeks
- Secondary Outcome Measures
Name Time Method
Trial Locations
- Locations (15)
National University Hospital
🇸🇬Singapore, Singapore
Westmead Hospital, Dept. of Genetic Medicine
🇦🇺Westmead, New South Wales, Australia
Hospital de la Santa Creu I Sant Pau
🇪🇸Barcelona, Spain
Seoul National University Hospital
🇰🇷Seoul, Korea, Republic of
Monash Medical Centre
🇦🇺Clayton, Victoria, Australia
St. Vincent's University Hospital
🇮🇪Dublin, Ireland
Insitute of Psychiatry and Neurology
🇵🇱Warsaw, Poland
Alberta Children's Hospital
🇨🇦Calgary, Alberta, Canada
Copernicus, St. Adalbert Hospital
🇵🇱Gdansk, Poland
Diamond Clinic
🇵🇱Krakow, Poland
Spitalul Clinic Judetean de Urgenta "Sf. Apostol Andrei"
🇷🇴Constanta, Romania
Hospital Universitari i Politecnic La Fe
🇪🇸Valencia, Spain
Hospital General Universitario Gregorio Maranon
🇪🇸Madrid, Spain
Mackay Memorial Hospital
🇨🇳Taipei, Taiwan
Women's and Children's Hospital
🇦🇺Adelaide, South Australia, Australia