A Multi-Center, Low Interventional Study with a Retrospective Component in Participants with Late Onset Pompe Disease
- Conditions
- ysosomal storage disorder and neuromuscular diseaseacid maltase deficiency (AMD)glycogen storage disorderPompe Disease
- Registration Number
- NL-OMON48104
- Lead Sponsor
- Spark Therapeutics
- Brief Summary
Not available
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- Completed
- Sex
- Not specified
- Target Recruitment
- 10
1. Provide written IC and authorization to use protected health information
(PHI) in accordance with national and local privacy regulation;
2. Male or females >=18 years of age;
3. Currently on ERT using regular recombinant human GAA infusions for at least
18 months prior to screening;
4. Documented history of clinically moderate late-onset Pompe disease. For
example:
a. Able to walk 150 meters on the 6-minute walk test (assistive devices
permitted)
b. Percentage of the predicted FVC >= 30% and <=80% in the upright position.
1. History of HIV
2. Requires any invasive ventilation (other than BiPAP at night) or noninvasive
ventilation while awake and upright;
3. Previously received SPK-GAA
4. Previously dosed with any investigational or approved gene therapy product
at any time or treated with an investigational drug within the last 12 weeks
(vaccination studies are accepted)
5. Any concurrent clinically significant condition that would not allow the
potential participant to complete the Day 1 examinations, or other condition
that, in the opinion of the Investigator and/or Sponsor, makes the subject
unsuitable for participation in the study
6. Unable or unwilling to comply with the schedule of visits and/or study
assessments described in the clinical protocol
Study & Design
- Study Type
- Observational invasive
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method <p>• Occurrence and titer of SPK-GAA antibodies</p><br>
- Secondary Outcome Measures
Name Time Method