A Study in Subjects With LOPD Who Are Currently Being Treated With ERT
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The purpose of the study is to evaluate changes in key clinical outcome measures (eg, motor, respiratory, fatigue) in adult subjects with 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.
Condition or disease
Late-onset Pompe Disease
The objective of this study is to evaluate the baseline characteristics and degree of change over time in clinical outcome measures commonly used to evaluate patients with LOPD.
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Ages Eligible for Study:
18 Years to 75 Years (Adult, Older Adult)
Sexes Eligible for Study:
Accepts Healthy Volunteers:
Male and female subjects with LOPD between 18 years and 75 years, inclusive and ≥ 50 kg.
Subject has a diagnosis of Pompe disease based on documented deficiency of GAA activity and a documented GAA mutation.
Male and female subjects between 18 years and 75 years, inclusive and ≥ 50 kg.
Subject must be currently receiving standard-of-care ERT (alglucosidase alfa) at a dose of 20 mg/kg dose every other week.
Subject must have been on ERT for the preceding 2 years or more.
Subject 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 6 minute walk distance (6MWD) is > 200 m. Subject must have an upright FVC within 40 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. 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
Subject is able to walk at least 100 m in the 6MWT and the assessment is noted as valid.
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 the Baseline Visit or is anticipated to do so during the course of the study
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)
Subject requires use of invasive or non-invasive ventilatory support for > 6 hours a day while awake.
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.
Subject is breastfeeding, or is pregnant or planning to become pregnant within the next 2 years.
Other exclusion criteria according to the Lumizyme/Myozyme instructions for use.
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD:
Studies a U.S. FDA-regulated Drug Product:
Studies a U.S. FDA-regulated Device Product:
Product Manufactured in and Exported from the U.S.:
Additional relevant MeSH terms:
Glycogen Storage Disease Type II
Lysosomal Storage Diseases, Nervous System
Brain Diseases, Metabolic, Inborn
Brain Diseases, Metabolic
Central Nervous System Diseases
Nervous System Diseases