Phase 1/2, dose-escalation study to evaluate the safety, tolerability and efficacy of a single intravenous infusion of SPK-3006 in adults with late-onset Pompe disease
This is a prospective, multinational, multicenter, open-label, non-randomized, first-in human Phase 1/2a, dose-escalation study to evaluate the safety, tolerability, and exploratory efficacy of a single intravenous infusion of SPK-3006 in adults with clinically moderate, late-onset Pompe disease. Participants will be treated in sequential, dose-level cohorts. The number of participants in each cohort will be determined by levels of circulating GAA, safety, and immunogenicity evaluations. Data from participants treated early in the study will enable potential adaptation of the dosing regimen for an optional additional cohort(s) or for an expanded cohort (or cohorts) at selected dose levels.
• Provide written informed consent;
• Males and Females ≥18 years of age with late-onset Pompe disease;
• Received ERT for at least the previous 24 months
• Have clinically moderate, late-onset Pompe disease characteristics;
• Agree to use reliable contraception.
• Active hepatitis B and/or C;
• Significant underlying liver disease;
• Human immunodeficiency virus (HIV) infection;
• Prior hypersensitivity to rhGAA;
• Pre-existing anti-AAV neutralizing antibody titers;
• High titer antibody responses to rhGAA;
• Requires any invasive ventilation or requires noninvasive ventilation while awake and upright;
• Received any prior vector or gene transfer agent;
• Active malignancy (except non-melanoma skin cancer);
• History of liver cancer;
• Pregnant or nursing women;
• Any evidence of active infection at the time of SPK-3006 infusion.
Pompe Disease, Pompe Disease (Late-onset), Glycogen Storage Disease Type 2, Glycogen Storage Disease Type II, LOPD, Lysosomal Storage Diseases, Acid Maltase Deficiency