Pompe Disease
Conditions
Keywords
S-606001, Late-onset Pompe Disease, LOPD, Muscle glycogen synthase, Liver glycogen synthase, Rare disease, Autosomal disease, Acid alpha-glucosidase, GAA, Glycogen storage disorder, GSD
Brief summary
The primary purpose of this study is to evaluate the safety and tolerability profile of S-606001 in participants with LOPD.
Interventions
DRUGS-606001
S-606001 will be administered orally as a tablet.
Sponsors
Shionogi
Study design
Allocation
NA
Intervention model
SINGLE_GROUP
Primary purpose
TREATMENT
Masking
NONE
Eligibility
Sex/Gender
ALL
Age
18 Years to No maximum
Healthy volunteers
No
Inclusion criteria
Key Inclusion Criteria: * Participant must be ≥40 kilograms of body weight at the time of signing the informed consent form * Participant must have a diagnosis of LOPD based on documentation 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 \>80% FVC in upright position and ≥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 * Participant must not have received enzyme replacement therapy (ERT) for at least 3 months prior to providing informed consent and enrollment and agrees not receive any type of ERT while participating in the study Key
Exclusion criteria
* Has a medical condition or any other extenuating circumstance that may, in the opinion of the investigator or medical monitor, 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 the muscle glycogen synthase gene or in the glycogen phosphorylase muscle associated gene * 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 for Pompe disease within 2 years of screening or small interfering RNA therapy for Pompe disease within 6 months of screening * 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 |
|---|---|
| Number of Participants with Treatment-emergent Adverse Events | Baseline (Day 1) through Week 49 |
Secondary
| Measure | Time frame |
|---|---|
| Plasma Concentration of S-606001 and Metabolites | Up to Week 28 |
| Change From Baseline in Percent Forced Vital Capacity (%FVC) | Baseline (Day 1), Week 48 |
| Change From Baseline in Maximum Expiratory Capacity (MEP) | Baseline (Day 1), Week 48 |
| Change From Baseline in Minimum Inspiratory Capacity (MIP) | Baseline (Day 1), Week 48 |
| Change From Baseline in 6-minute Walk Test (6MWT) | Baseline (Day 1), Week 48 |
| Change from Baseline in Daily Living Activity Levels as Assessed by the Investigator | Baseline (2-4 weeks prior to Day 1), Week 48 |
| Change From Baseline in Gait, Stair, Gower's Maneuver, and Chair (GSGC) Score | Baseline (Day 1), Week 48 |
Contacts
CONTACTShionogi Clinical Trials Administrator Clinical Support Help Line
STUDY_DIRECTORMedical Director
Shionogi Inc.
Outcome results
None listed