Late-onset Pompe Disease
Conditions
Brief summary
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.
Detailed description
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.
Interventions
None listed
Sponsors
Amicus Therapeutics
Study design
Observational model
CASE_ONLY
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
18 Years to 75 Years
Healthy volunteers
No
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 and ≥ 50 kg. 3. Subject must be currently receiving standard-of-care ERT (alglucosidase alfa) at a dose of 20 mg/kg dose every other week. 4. Subject must have been on ERT for the preceding 2 years or more. 5. 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 6. Subject is able to walk at least 100 m in the 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 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. 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
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Evaluate degree of change in muscle function and respiratory endpoints over time | 6-15 month | To evaluate the degree of change in muscle function and respiratory endpoints over time in patients with Late Onset Pompe disease |
Countries
Australia, Belgium, Canada, United States
Outcome results
None listed