Principal Investigator: Nicola Longo
Keywords: Pompe , Glycogen Storage Disease Type II , acid maltase deficiency , Amicus Department: Pediatric Genetics
IRB Number: 00109144
Specialty: Pediatric Genetics
Sub Specialties: Medical Genetics
Recruitment Status: Terminated

Contact Information

Carrie Bailey

Brief Summary

The purpose of the study is to evaluate changes in key clinical outcome measures (eg, motor, respiratory, fatigue) in late-onset Pompe disease (LOPD) subjects receiving standard-of-care enzyme replacement therapy (ERT). Additionally, information gained may be used in the design and conduct of future studies in LOPD subjects.



Inclusion Criteria

1. Subject has a diagnosis of Pompe disease based on documented deficiency of GAA activity and a documented GAA mutation.
2. Male and female subjects between 18 years and 75 years, inclusive.
3. Subject must provide signed, informed consent prior to performing any study-related procedures.
4. Subject must be currently receiving standard-of-care ERT (alglucosidase alfa) at a dose of 20 mg/kg dose every other week.
5. Subject must have been on ERT for the preceding 2 years or more.
6. Subject must be able to perform pulmonary testing and muscle function testing in a seated position.
7. Subject must have an upright FVC that is within 33 to 80% of predicted normal, based on the higher of the screening or baseline value.
8. Subject is able to walk at least 200 m in the 6MWT.

Exclusion Criteria

1. Subject has received any investigational therapy or pharmacological treatment for Pompe disease, other than alglucosidase alfa, within 30 days prior to the Baseline Visit or is anticipated to do so during the course of the study.
2. Subject is on any of the following prohibited medications within 30 days of baseline:
• miglitol (eg, Glyset)
• miglustat (eg, Zavesca)
• acarbose (eg, Precose, Glucobay)
• voglibose (eg, Volix, Vocarb, Volibo)
3. Subject requires use of invasive or non-invasive ventilatory support for > 6 hours a day while awake.
4. Subject has a medical or any other extenuating condition or circumstance that may, in the opinion of the investigator, pose an undue safety risk to the subject or compromise his/her ability to comply with protocol requirements.
5. Subject is pregnant.