Pompe Disease
Conditions
Keywords
Late-onset Pompe disease, Enzyme replacement therapy, LOPD, ERT, S-606001, Muscle glycogen synthase, Liver glycogen synthase, Rare disease, Autosomal disease, Acid alpha-glucosidase, GAA, Glycogen storage disorder, GSD
Brief 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.
Interventions
DRUGS-606001
S-606001 administered orally
DRUGPlacebo
S-606001 matching placebo administered orally
Sponsors
Shionogi
Study design
Allocation
RANDOMIZED
Intervention model
PARALLEL
Primary purpose
TREATMENT
Masking
QUADRUPLE (Subject, Caregiver, Investigator, Outcomes Assessor)
Eligibility
Sex/Gender
ALL
Age
18 Years to No maximum
Healthy volunteers
No
Inclusion criteria
Key Inclusion Criteria: * 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: 1. Deficiency of acid alpha-glucosidase (GAA) enzyme 2. 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: 1. Screening values of 6-minute walk distance (6MWD) are ≥75 meters 2. 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. Key
Exclusion criteria
* 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. Note: Other protocol-specified inclusion and
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Change From Baseline in Percent Forced Vital Capacity (%FVC) at Week 52 | Baseline, Week 52 |
Secondary
| Measure | Time frame |
|---|---|
| Number of Participants With Treatment-emergent Adverse Events (TEAEs) | Baseline up to Week 53 |
| Plasma Concentration of S-606001 | Up to Week 12 |
| Change From Baseline in Serum Creatine Kinase Levels at Week 52 | Baseline, Week 52 |
| Change From Baseline in 6-minute Walk Test (6MWT) at Week 52 | Baseline, Week 52 |
| Change From Baseline in Pulmonary Function Parameter: Maximal Inspiratory Pressure (MIP) at Week 52 | Baseline, Week 52 |
| Change From Baseline in Pulmonary Function Parameter: Maximal Expiratory Pressure (MEP) at Week 52 | Baseline, Week 52 |
| Change From Baseline in Motor Function Parameter: Gait, Stair, Gower's Maneuver, Chair (GSGC) Score at Week 52 | Baseline, Week 52 |
| Change From Baseline in Patient-Reported Outcomes Measurement Information System Fatigue Short Form 8a (PROMIS-Fatigue-8a) Score at Week 52 | Baseline, Week 52 |
| Change From Baseline in Patient-Reported Outcomes Measurement Information System Physical Function 20-item short form (PROMIS-PF-20) Score at Week 52 | Baseline, Week 52 |
| Change From Baseline in Patient-Reported Outcomes Measurement Information System v2.0 Pain Intensity 3a (PROMIS v2.0 PAIN) Score at Week 52 | Baseline, Week 52 |
| Change From Baseline in 36-item Short Form Health Survey (SF-36) Score at Week 52 | Baseline, Week 52 |
| Change From Baseline in Patient Global Impression of Severity (PGI-S) Score at Week 52 | Baseline, Week 52 |
Countries
Belgium, Denmark, France, Germany, Italy, Netherlands, Spain, United Kingdom, United States
Contacts
CONTACTShionogi Clinical Trials Administrator Clinical Support Help Line
Outcome results
None listed