RecruitingPhase 2NCT07123155
Study of S-606001 as an Add-on to Enzyme Replacement Therapy (ERT) in Participants With Late-onset Pompe Disease (LOPD)
A Phase 2, Multicenter, Randomized, Placebo-controlled, Double-blind Study to Investigate the Safety, Pharmacodynamics, and Preliminary Efficacy of S-606001 as an Add-on to Enzyme Replacement Therapy in Patients With Late-onset Pompe Disease
Sponsor
Shionogi
Enrollment
45 participants
Start Date
Oct 30, 2025
Study Type
INTERVENTIONAL
Conditions
Summary
The purpose of this study is to evaluate the safety, pharmacodynamics (PD), and exploratory clinical efficacy of S-606001 in adult participants with LOPD as an add-on to ERT.
Eligibility
Min Age: 18 Years
Inclusion Criteria9
- Participant must be ≥18 years of age and ≥40 kilograms (kg) of body weight at the time of signing the informed consent.
- Participant must have a diagnosis of LOPD based on documentation of 1 of the following:
- Deficiency of acid alpha-glucosidase (GAA) enzyme
- GAA genotype
- Participant has a %FVC ≥30% and ≤80% in an upright position without mechanical ventilation at screening; or Participant has ≥10% %FVC drop from upright position to supine position and %FVC ≥20% in a supine position.
- Participant performs the 6MWT at screening, as determined by the clinical evaluator, and meets all of the following criteria:
- Screening values of 6-minute walk distance (6MWD) are ≥75 meters
- Screening values of 6MWD are ≤90% of the predicted value for healthy adults
- Participants must be ERT-experienced, defined as currently receiving ERT and having been receiving ERT for ≥24 months, with no regimen change in the last 6 months.
Exclusion Criteria9
- Has a medical condition or any other extenuating circumstance that may pose an undue safety risk to the participant or may compromise his/her ability to comply with or adversely impact protocol requirements.
- Has active infections at screening.
- Malignancy within the past 5 years except for basal cell or squamous epithelial carcinomas of the skin that have been resected with no evidence of metastatic disease for 3 years.
- Current or chronic history of liver disease.
- Known biallelic loss of function mutations whether in glycogenin gene (GYG) or in glycogen phosphorylase muscle associated gene(PYGM) .
- Has received any investigational therapy or pharmacological treatment for Pompe disease, within 30 days or 5 half-lives of the therapy or treatment, whichever is longer, before day 1 or is anticipated to do so during the study.
- Has received gene therapy or small interfering ribonucleic acid (RNA) therapy for Pompe disease.
- Participant, if female, is pregnant or breastfeeding at screening.
- Participant, whether male or female, is planning to conceive a child during the study.
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Interventions
DRUGS-606001
S-606001 administered orally
DRUGPlacebo
S-606001 matching placebo administered orally
Locations(28)
View Full Details on ClinicalTrials.gov
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NCT07123155
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