A Multi-Center, Low lnterventional Study with a Retrospective Component in Participants with Late Onset Pompe Disease


This is a single visit study with retrospective targeted data collection for subjects with late onset Pompe disease. The Sponsor is developing a therapy for which this study will serve as the comparative natural history.

I'm interested

18 Years and over
This study is NOT accepting healthy volunteers
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.

Diagnostic Test: Neutralizing Antibody to SPK-3006 capsid

Pompe Disease, Pompe Disease (Late-onset), Glycogen Storage Disease Type 2, LOPD, Lysosomal Storage Diseases, Acid Maltase Deficiency

Brenda Diethelm-Okita -
Chester Whitley, MD, PhD
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