Pompe DiseasePhase 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 study testing S-606001 in people with Pompe Disease, run by Shionogi at 28 sites in 9 countries.
Trial 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. Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Pompe Disease
- What is being tested?
- S-606001
- Type of treatment
- Pill or oral medicine
- Could I receive a placebo?
- Yes, some participants may receive a placebo
- How many people
- 45 participants
- Where
- 28 sitesin 9 countries
- Study dates
- 30 Oct 2025to 8 Aug 2027
- Phase
- Phase 2
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- All sexes
- No healthy volunteers
- Adult, Older adult
Who may be able to join
- 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:
Show all 9Show fewer
- 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.
Who cannot join
- 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.
Show all 10Show fewer
- 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.
Trial locations and contacts
28 sites in 9 countries. Contact the study team or a site near you to ask about taking part.
Shionogi Clinical Trials Administrator Clinical Support Help Line contact
28 sites in 9 countries
United States9 sites, 9 recruiting
- Recruiting
Emory University Hospital
Atlanta, Georgia, 30322
- Recruiting
Cincinnati Children's Hospital Medical Center
Cincinnati, Ohio, 45229
- Recruiting
Duke University Medical Center
Durham, North Carolina, 27710
- Recruiting
Lysosomal and Rare Disorders Research and Treatment Center (LDRTC)
Fairfax, Virginia, 22030
- Recruiting
University of Florida (UF) - Gainesville
Gainesville, Florida, 32611
- Recruiting
University of California - Irvine Medical Center
Irvine, California, 92868
- Recruiting
University of Pennsylvania
Philadelphia, Pennsylvania, 19104
- Recruiting
University of Pittsburgh School of Medicine
Pittsburgh, Pennsylvania, 15213
- Recruiting
Washington University in St. Louis
St Louis, Missouri, 63130
United Kingdom5 sites, 5 recruiting
- Recruiting
Queen Elizabeth Hospital Birmingham
Birmingham
- Recruiting
National Hospital for Neurology & Neurosurgery
London
- Recruiting
Royal Free London NHS Foundation Trust
London
- Recruiting
Royal Victoria Infirmary
Newcastle upon Tyne
- Recruiting
Salford Royal Hospital
Salford
France4 sites, 4 recruiting
- Recruiting
HLC Hopital Pierre Wertheimer
Bron
- Recruiting
AP-HP Hopital Raymond Poincare
Garches
- Recruiting
Centre de Reference des Maladies Neuromusculaires et de la SLA - AP-HM Hopital de La Timone
Marseille
- Not yet recruiting
CHU de Nice - Hopital Pasteur 2 - Centre de reference des Maladies Neuromusculaires
Nice
Germany3 sites, 3 recruiting
- Recruiting
Universitaetsklinikum Halle (Saale)
Halle
- Recruiting
SphinCS GmbH
Höchheim
- Recruiting
Klinikum der Ludwig-Maximilians-Universitaet Muenchen
München
Italy2 sites, 2 recruiting
- Recruiting
A.O.U. Policlinico "G. Martino"
Messina
- Recruiting
AOU Citta della Salute e della Scienza di Torino - Ospedale le Molinette
Torino
Spain2 sites, 2 recruiting
- Recruiting
Hospital Universitario 12 de Octubre
Madrid
- Recruiting
Hospital Universitari i Politecnic La Fe
Valencia
Netherlands1 site, 1 recruiting
- Recruiting
Erasmus MC
GE Rotterdam, GE Rotterdam
About this study
Official title: 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
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.
- Conditions
- Pompe Disease
- Being tested
- S-606001, Placebo
- 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
- Medical subject headings
- Glycogen Storage Disease Type II, Rare Diseases, Glycogen Storage Disease
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
S-606001Drug
S-606001 administered orally
PlaceboDrug
S-606001 matching placebo administered orally
| Study group | Role | What they receive |
|---|---|---|
| S-606001 Low Dose | Experimental | Participants will receive S-606001 at a low dose level twice daily (BID) after a meal for 52 weeks. Receives: Drug: S-606001 |
| S-606001 High Dose | Experimental | Participants will receive S-606001 at a high dose level BID after a meal for 52 weeks. Receives: Drug: S-606001 |
| Placebo | Placebo comparator | Participants will receive S-606001 matching placebo BID after a meal for 52 weeks. Receives: Drug: Placebo |
What is being measured
The primary outcome is the main question the study is designed to answer.
Change From Baseline in Percent Forced Vital Capacity (%FVC) at Week 52
Measured: Baseline, Week 52
Secondary outcomes (12)
Number of Participants With Treatment-emergent Adverse Events (TEAEs)
Measured: Baseline up to Week 53
Plasma Concentration of S-606001
Measured: Up to Week 12
Change From Baseline in Serum Creatine Kinase Levels at Week 52
Measured: Baseline, Week 52
Change From Baseline in 6-minute Walk Test (6MWT) at Week 52
Measured: Baseline, Week 52
Change From Baseline in Pulmonary Function Parameter: Maximal Inspiratory Pressure (MIP) at Week 52
Measured: Baseline, Week 52
Change From Baseline in Pulmonary Function Parameter: Maximal Expiratory Pressure (MEP) at Week 52
Measured: Baseline, Week 52
Change From Baseline in Motor Function Parameter: Gait, Stair, Gower's Maneuver, Chair (GSGC) Score at Week 52
Measured: Baseline, Week 52
Change From Baseline in Patient-Reported Outcomes Measurement Information System Fatigue Short Form 8a (PROMIS-Fatigue-8a) Score at Week 52
Measured: 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
Measured: 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
Measured: Baseline, Week 52
Change From Baseline in 36-item Short Form Health Survey (SF-36) Score at Week 52
Measured: Baseline, Week 52
Change From Baseline in Patient Global Impression of Severity (PGI-S) Score at Week 52
Measured: Baseline, Week 52
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted14 Aug 2025
- Study start30 Oct 2025
- Primary completion8 Aug 2027 (estimated)
- Study completion8 Aug 2027 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Pompe DiseaseStudies of the same condition, open and under way.
- More trials run by ShionogiThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase 2
- Primary purpose
- Treatment
- Allocation
- Randomised
- Intervention model
- Parallel groups
- Masking
- Quadruple blind
- Who is masked
- Participant, Care provider, Investigator, Outcomes assessor
- Enrolment
- 45 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Shionogi
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07123155
- Sponsor's protocol ID
- 2405N1221
- Other IDs
- 2025-522146-40, 2025
- Status last verified
- Jun 2026
- First submitted
- 25 Jul 2025
- Last updated
- 23 Jun 2026
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- Yes
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 23 Jun 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- 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
- ClinicalTrials.gov ID
- NCT07123155
- Acronym / sponsor ID
- 2405N1221
- Conditions
- Pompe Disease
- Keywords
- Late-onset Pompe disease, Enzyme replacement therapy, LOPD, ERT, S-606001, Muscle glycogen synthase, Liver glycogen synthase, Rare disease
- Phase
- Phase 2
- Study type
- Interventional
- Recruitment status
- Recruiting
- Enrolment
- 45 participants (estimated)
- Lead sponsor
- ShionogiIndustry (pharma, biotech, devices)
- Study start
- 30 Oct 2025 (actual)
- Primary completion
- 8 Aug 2027 (estimated)
- Study completion
- 8 Aug 2027 (estimated)
- First posted
- 14 Aug 2025 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Primary purpose
- Treatment
- Allocation
- Randomised
- Intervention model
- Parallel groups
- Masking
- Quadruple blind (participant, care provider, investigator, outcomes assessor)
- Number of arms
- 3
| Arm | Type | Receives |
|---|---|---|
| S-606001 Low Dose | Experimental | Drug: S-606001Participants will receive S-606001 at a low dose level twice daily (BID) after a meal for 52 weeks. |
| S-606001 High Dose | Experimental | Drug: S-606001Participants will receive S-606001 at a high dose level BID after a meal for 52 weeks. |
| Placebo | Placebo comparator | Drug: PlaceboParticipants will receive S-606001 matching placebo BID after a meal for 52 weeks. |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
Key inclusion criteria (9 listed)
- 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:
- 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:
- 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 (10 listed)
- 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) .
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| S-606001S-606001 administered orally | Drug | S-606001 High Dose, S-606001 Low Dose |
| PlaceboS-606001 matching placebo administered orally | Drug | Placebo |
Primary outcome
Change From Baseline in Percent Forced Vital Capacity (%FVC) at Week 52
Time frame: Baseline, Week 52
12 secondary outcomes
Number of Participants With Treatment-emergent Adverse Events (TEAEs)
Time frame: Baseline up to Week 53
Plasma Concentration of S-606001
Time frame: Up to Week 12
Change From Baseline in Serum Creatine Kinase Levels at Week 52
Time frame: Baseline, Week 52
Change From Baseline in 6-minute Walk Test (6MWT) at Week 52
Time frame: Baseline, Week 52
Change From Baseline in Pulmonary Function Parameter: Maximal Inspiratory Pressure (MIP) at Week 52
Time frame: Baseline, Week 52
Change From Baseline in Pulmonary Function Parameter: Maximal Expiratory Pressure (MEP) at Week 52
Time frame: Baseline, Week 52
Change From Baseline in Motor Function Parameter: Gait, Stair, Gower's Maneuver, Chair (GSGC) Score at Week 52
Time frame: Baseline, Week 52
Change From Baseline in Patient-Reported Outcomes Measurement Information System Fatigue Short Form 8a (PROMIS-Fatigue-8a) Score at Week 52
Time frame: 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
Time frame: 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
Time frame: Baseline, Week 52
Change From Baseline in 36-item Short Form Health Survey (SF-36) Score at Week 52
Time frame: Baseline, Week 52
Change From Baseline in Patient Global Impression of Severity (PGI-S) Score at Week 52
Time frame: Baseline, Week 52
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 23 Jun 2026.
Related trials for Pompe Disease
Active, not recruiting
Effects of Whole-body Electrical Muscle Stimulation Exercise on Adults With Neuromuscular Disease
Neuromuscular Diseases (NMD), Amyotrophic Lateral Sclerosis
Recruiting
Transcriptomic Analysis to Put an End to Misdiagnosis in Patients With Rare Muscle Diseases
Rare Genetic Muscle Diseases, Muscular Dystrophy, Duchenne
RecruitingObservational study
Pompe Disease Registry Protocol
Glycogen Storage Disease Type II, Pompe Disease
Not yet recruitingObservational study
MENA/Levant Epidemiological, Registry of Immunological & Clinical Traits (MERIT)
Antiphospholipid (aPL)-Positive, Rheumatic Arthritis
Not yet recruitingPhase 2
An Extension Study of S-606001 in Participants With Late-onset Pompe Disease (LOPD)
Pompe Disease
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Shionogi Clinical Trials Administrator Clinical Support Help Line contact
28 sites in 9 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A Phase 2 study testing S-606001 in people with Pompe Disease, run by Shionogi at 28 sites in 9 countries.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 9 inclusion and 10 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 23 Jun 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 28 sites in United States, United Kingdom, France, Germany, Italy and 4 more countries. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. Some participants in this study may receive a placebo. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
What does this phase mean?
Phase 2 studies give the treatment to a larger group to see whether it has the intended effect and to keep checking safety.
Not every study follows the same path, and some studies (observational studies, device studies) have no phase.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Shionogi Clinical Trials Administrator Clinical Support Help Line (800-849-9707, Shionogiclintrials-admin@shionogi.co.jp), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Change From Baseline in Percent Forced Vital Capacity (%FVC) at Week 52 (time frame: Baseline, Week 52). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 23 Jun 2026.