A Prospective Study in Subjects with Late-onset Pompe Disease who are Currently Being Treated with Enzyme Replacement Therapy

Recruitment & Eligibility

Status: Pending

Sex: Not specified

Target Recruitment: 3

Inclusion Criteria

1. Subject has a diagnosis of Pompe disease based on documented deficiency of
acid *-glucosidase (GAA) activity and a documented GAA mutation (the gene
that encodes GAA).
2. Male and female subjects between 18 years and 75 years, inclusive and * 50 kg.
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 the recommended dose (approximately 20 mg/kg dose) every other week and for the past 2 years or more
5. Subject must be able to perform pulmonary testing and muscle function
testing in a seated position.
6. Subjects must have an upright forced vital capacity (FVC) within 35 to 90%
of predicted normal (NHANES III reference values), based on the higher of the screening or baseline value, if their 6MWD is >200 m. Subject must have an upright FVC within 40 to 90% of redicted normal (NHANES III reference values), based on the higher of the screening or baseline value, if their 6MWD is *200m. If FVC is between 80 and 90% of predicted normal, the subject may enter the study if the percent predicted FVC value drops by 10% predicted or more in supine position.
7. Subject is able to walk at least 100 m in the 6-minute walk test (6MWT) and the assessment is noted as valid.

Exclusion Criteria

1. Subject has received any investigational therapy or pharmacological treatment
for Pompe disease, other than alglucosidase alfa, within 30 days or 5 half-lives, whichever is shorter, prior to theBaseline 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 or 5 half-lives, whichever is shorter, prior to
Baseline, or is anticipated to do so during the course of the study:
* 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. This includes clinical depression (as diagnosed by a psychiatrist or other mental health professional) with uncontrolled or poorly controlled symptoms.
5. Subject is breastfeeding, or is pregnant or planning to become pregnant within the next 2 years
6. Other exclusion criteria according to the Lumizyme/Myozyme instructions for use.