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

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT02221362
Recruitment Status : Terminated
First Posted : August 20, 2014
Last Update Posted : October 31, 2016
Information provided by (Responsible Party):
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.

Condition or disease
Late-onset Pompe Patients Untreated or Treated With rhGAA

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Study Type : Observational
Actual Enrollment : 30 participants
Observational Model: Case-Control
Time Perspective: Prospective
Official Title: A Prospective, Noninterventional, Observational Study of Late-Onset Pompe Disease
Study Start Date : December 2014
Actual Primary Completion Date : September 2016
Actual Study Completion Date : September 2016

No interventions

Primary Outcome Measures :
  1. To evaluate the degree of change in respiratory and endurance endpoints over time in patients with Pompe disease [ Time Frame: 264 Weeks ]

Biospecimen Retention:   Samples With DNA
Blood and urine samples to be collected for exploratory research, Genetic/Genomic testing is optional requiring specific consent

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

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Ages Eligible for Study:   18 Years and older   (Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Late-onset Pompe Disease patients untreated or treated with rhGAA

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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT02221362

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Sponsors and Collaborators
BioMarin Pharmaceutical
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Study Director: Medical Monitor, MD BioMarin Pharmaceutical
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Responsible Party: BioMarin Pharmaceutical Identifier: NCT02221362    
Other Study ID Numbers: 701-901
First Posted: August 20, 2014    Key Record Dates
Last Update Posted: October 31, 2016
Last Verified: September 2015
Additional relevant MeSH terms:
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Glycogen Storage Disease Type II
Lysosomal Storage Diseases, Nervous System
Brain Diseases, Metabolic, Inborn
Brain Diseases, Metabolic
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Glycogen Storage Disease
Carbohydrate Metabolism, Inborn Errors
Lysosomal Storage Diseases
Metabolic Diseases