Neutralizing Antibody Seroprevalence Study With a Retrospective Component in Participants With Late-Onset Pompe Disease

The purpose of this study is to obtain information pertaining to the occurrence of antibodies
to investigational SPK-3006 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.

Eligibility Criteria

Inclusion Criteria:

1. Provide written informed consent and authorization to use protected health information
in accordance with national and local privacy regulations

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.

Exclusion Criteria:

1. History of HIV infection

2. Requires any invasive ventilation (other than BiPAP at night) or noninvasive
ventilation while awake and upright

3. Previously received SPK-3006

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.

Exclusion Criteria

Exclusion Criteria:

1. History of HIV infection

2. Requires any invasive ventilation (other than BiPAP at night) or noninvasive
ventilation while awake and upright

3. Previously received SPK-3006

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.

Principal Investigator

Mazen Dimachkie, MD

Study Contact

Andrew Heim, aheim2@kumc.edu, 913-945-9926

Estimated Completion Date

Wednesday, June 1, 2022

ClinicalTrials.gov #

NCT03893240
07/22/2019