Acid Maltase Deficiency, Glycogen Storage Disease Type 2, LOPD, Lysosomal Storage Diseases, Pompe Disease, Pompe Disease (Late-onset)
Conditions
Brief summary
The purpose of this study is to obtain information pertaining to the occurrence of antibodies to investigational SPK-3006 capsid and GAA, GAA activity and GAA antigen levels in the usual care setting of Late-Onset Pompe Disease (LOPD) participants on an enzyme replacement regimen. Additionally, a careful evaluation of laboratory and functional testing in patients with LOPD may provide information to better understand the disease features and better drive the design of a future interventional investigational gene therapy trial. An understanding of the underlying status of liver and muscle health in individuals with LOPD may also inform best surveillance during the conduct of gene therapy trials.
Interventions
DIAGNOSTIC_TESTNeutralizing Antibody to SPK-3006 capsid
Collected during a single study visit to establish the occurrence of neutralizing antibodies to SPK-3006 capsid in participants with LOPD on an enzyme replacement regimen.
Sponsors
Spark Therapeutics, Inc.
Study design
Allocation
NA
Intervention model
SINGLE_GROUP
Primary purpose
SCREENING
Masking
NONE
Eligibility
Sex/Gender
ALL
Age
18 Years to No maximum
Healthy volunteers
No
Inclusion criteria
* Provide written informed consent and authorization to use protected health information in accordance with national and local privacy regulations * Male or females ≥18 years of age * Currently on ERT using regular recombinant human GAA infusions for at least 18 months prior to screening * Documented history of clinically moderate late-onset Pompe disease.
Exclusion criteria
* History of HIV infection * Requires any invasive ventilation (other than BiPAP at night) or noninvasive ventilation while awake and upright * Previously received SPK-3006 * 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) * 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 * Unable or unwilling to comply with the schedule of visits and/or study assessments described in the clinical protocol.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Neutralizing Antibodies Titer to SPK-3006 capsid | 1 day | The neutralizing antibodies titer to SPK-3006 is measured once prospectively at one site visit. |
| Occurrence of Neutralizing Antibodies to SPK-3006 capsid | 1 day | The proportion of participants who have Neutralizing Antibodies to SPK-3006 capsid. |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Neutralizing antibodies to circulating GAA Titer | 1 day | Neutralizing antibodies to circulating GAA titer is measured once prospectively at one site visit and, if available, retrospectively from medical records that are within 24 months of signing the informed consent. |
| Occurrence of Neutralizing antibodies to circulating GAA | 1 day | The proportion of participants who have neutralizing antibodies to circulating GAA. |
| Anti-GAA binding antibodies Titer | 1 day | Anti-GAA binding antibodies titer is measured once prospectively at one site visit. |
| GAA antigen level | 1 day | GAA antigen level (percent of normal) is measured once prospectively at one site visit and, if available, retrospectively from medical records that are within 24 months of signing the informed consent. |
| GAA activity level | 1 day | GAA activity level (percent of normal) is measured once prospectively at one site visit and, if available, retrospectively from medical records that are within 24 months of signing the informed consent. |
| Occurrence of Anti-GAA binding antibodies across participants | 1 day | The proportion of participants who have Anti-GAA binding antibodies. |
Countries
France, Germany, Italy, Netherlands, United Kingdom, United States
Outcome results
None listed