ClinicalTrials.gov record NCT07123155
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
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AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.
This phase 2 randomized, placebo-controlled trial tests oral S-606001 taken twice daily as an add-on to ongoing enzyme replacement therapy in adults with late-onset Pompe disease. Participants are assigned to low dose, high dose, or matching placebo and treated for 52 weeks. The study measures safety, pharmacodynamics, and exploratory clinical outcomes such as lung function and walking distance.
What it is studying. The study is testing whether adding oral S-606001 to participants' existing enzyme replacement therapy is safe, how the drug affects biological measures (pharmacodynamics), and whether there are preliminary signs of clinical effect. The primary measurement is change in percent forced vital capacity (%FVC) from baseline to Week 52. Secondary measurements include treatment-emergent adverse events, plasma drug levels, 6-minute walk distance, respiratory muscle pressures (MIP/MEP), muscle function scores, creatine kinase, and patient-reported fatigue, pain, and quality-of-life scores.
What the researchers hope to learn. To collect data on the safety and pharmacodynamics of S-606001 when added to enzyme replacement therapy, and to gather preliminary information on effects on lung function, walking ability, muscle function, laboratory markers, and patient-reported outcomes.
What this study is about
The study's own summary, as published on ClinicalTrials.gov. Underlined terms have a short explanation.
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 being studied
Being studied in this trial does not mean the treatment or procedure is approved or available for this condition.
- Drug
- S-606001
- Placebo
Eligibility
The criteria exactly as listed on ClinicalTrials.gov. Only the study team can say whether they apply to you.
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:
- 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.
- 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 exclusion criteria may apply.
Study description and what participation involves
The registry record has no detailed description beyond the summary above.
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AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.
Participants are randomly assigned to low-dose S-606001, high-dose S-606001, or matching placebo and take the study drug orally twice daily after a meal for 52 weeks. They will have regular study visits with safety monitoring and assessments including breathing tests (%FVC, MIP/MEP), a 6-minute walk test, blood tests (including drug plasma levels early in the study), motor function scores, and patient questionnaires about fatigue, pain, and quality of life. Adverse events will be recorded throughout treatment and up to the brief safety follow-up period after Week 52. Specific additional tests or visits may be required by the study protocol.
How the study is structured. Randomized, double-blind, placebo-controlled, parallel assignment with three groups (low-dose S-606001, high-dose S-606001, or matching placebo). Study drug is taken orally twice daily after a meal for 52 weeks. Participants undergo breathing tests, 6-minute walk tests, muscle-function assessments, blood tests for drug levels and safety, and questionnaires at baseline and during follow-up.
Questions you could ask
These questions are suggestions for a conversation with the study team or your own clinician, not advice.
- Some participants receive a placebo. How is that decided, and what happens for placebo-group participants when the study ends?
- The listed sites are in Belgium, Denmark, France, Germany, Italy, Netherlands, Spain, United Kingdom, United States. Is any of them reachable for me, and does the study help with travel?
- Which of the eligibility criteria would need to be checked with tests before I could join?
More on Pompe disease
Important dates
- Study start
- Oct 30, 2025
- Primary completion
- Aug 8, 2027 (estimated)
- Study completion
- Aug 8, 2027 (estimated)
- Target enrollment
- 45 participants (estimated)
- Last updated on registry
- Jun 23, 2026
- Data verified
- Oct 10, 2026
Sponsor and research team
The lead sponsor funds and oversees the trial. A pharmaceutical or biotech company sponsor typically means the study is testing that company's drug or device; a hospital, university, or government agency usually indicates investigator-initiated or publicly funded research.
- Lead sponsor
- Shionogi
Central study contact
If you're interested in participating, the central contact can answer general questions about the study — including eligibility requirements and how to find a recruiting site near you. Actual eligibility is determined by the site's medical team.
- Shionogi Clinical Trials Administrator Clinical Support Help Line 📞 800-849-9707 ✉ Shionogiclintrials-admin@shionogi.co.jp
Participating sites (28)
- University of California - Irvine Medical CenterRecruiting
Irvine, California, 92868 · United States
- University of Florida (UF) - GainesvilleRecruiting
Gainesville, Florida, 32611 · United States
- Emory University HospitalRecruiting
Atlanta, Georgia, 30322 · United States
- Washington University in St. LouisRecruiting
St Louis, Missouri, 63130 · United States
- Duke University Medical CenterRecruiting
Durham, North Carolina, 27710 · United States
- Cincinnati Children's Hospital Medical CenterRecruiting
Cincinnati, Ohio, 45229 · United States
- University of PennsylvaniaRecruiting
Philadelphia, Pennsylvania, 19104 · United States
- University of Pittsburgh School of MedicineRecruiting
Pittsburgh, Pennsylvania, 15213 · United States
- Lysosomal and Rare Disorders Research and Treatment Center (LDRTC)Recruiting
Fairfax, Virginia, 22030 · United States
- UZ LeuvenRecruiting
Leuven · Belgium
Terms used on this page · explanations by MedicalUpdates.ai
- pharmacodynamics
- What a drug does to the body, for example how it changes a blood marker or a symptom, and how that relates to the dose.
- informed consent
- The process of explaining a study, including its risks and what participation involves, so that a person can decide freely whether to take part. Consent is usually documented in writing, and a participant can choose to leave the study later.
- %FVC
- A breathing test that measures the total amount of air a person can blow out after a full breath in. It is often given as a percentage of what is expected for a person's age and size.
- at screening
- The checks done before enrolment to see whether a person qualifies, such as tests, scans or a review of medical history.
- 6MWT
- A test of how far a person can walk on a flat surface in six minutes. It is used to measure stamina and to track change over time.
- investigational
- A treatment that is being tested and has not been approved for this use. It may be approved for a different condition. Being studied does not mean it works or is available outside the study.
- 5 half-lives
- The time it takes for the amount of a drug in the body to fall by half. 'Five half-lives' is often used as the point at which a previous drug has essentially left the body.
- exclusion criteria
- The conditions that rule a person out even if they meet the inclusion criteria, for example other illnesses, certain medicines or pregnancy.
- Key Inclusion Criteria
- The conditions a person must meet to be considered for the study, for example a confirmed diagnosis, an age range or a test result.
The study record on this page is reproduced from ClinicalTrials.gov, a database of the U.S. National Library of Medicine, where it was submitted by the study sponsor. MedicalUpdates.ai does not own this content, is not affiliated with or endorsed by ClinicalTrials.gov, NIH, or the U.S. Government, and does not verify the record. Plain-language notes, the glossary and the questions above are added by this site; text in the boxes marked "AI summary" was written by an AI model and may contain errors. Registry records change over time. Check the original record for the current version and discuss eligibility or participation with a qualified healthcare professional.
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