Pompe DiseasePhase 2NCT07750990
An Extension Study of S-606001 in Participants With Late-onset Pompe Disease (LOPD)
A Phase 2 study testing S-606001 and ERT in people with Pompe Disease, run by Shionogi.
Trial summary
The primary purpose of this study is to evaluate the long-term safety and tolerability profile of S-606001 in participants with LOPD. Participants who completed other S-606001 studies (for example, NCT07123155), including participants in a S-606001 study whose allocated arm was terminated by the sponsor and who are… 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 and ERT
- Type of treatment
- Pill or oral medicine, Injection or infusion
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 60 participants
- Where
- No sites listed yet
- Study dates
- 2 Nov 2026to 31 Aug 2028
- 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 ≥40 kilograms of body weight at the time of signing the informed consent
- Participants who previously completed a S-606001 Pompe treatment study, including participants whose assigned treatment arm was terminated by the sponsor
Who cannot join
- 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
- Current enrollment in any other clinical study involving an investigational intervention or any other type of medical research
- Participant, if female, is pregnant or breastfeeding at visit 1
- 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
No sites are listed yet. Contact the study team or a site near you to ask about taking part.
Shionogi Clinical Trials Administrator Clinical Support Help Line contact
About this study
Official title: A Phase 2, Open-label, Multicenter, Extension Study to Investigate the Long-term Safety and Efficacy of S-606001 in Patients With Late-onset Pompe Disease
The primary purpose of this study is to evaluate the long-term safety and tolerability profile of S-606001 in participants with LOPD.
Participants who completed other S-606001 studies (for example, NCT07123155), including participants in a S-606001 study whose allocated arm was terminated by the sponsor and who are willing to participate in this study, will be enrolled globally.
- Conditions
- Pompe Disease
- Being tested
- S-606001, ERT
- Keywords
- S-606001, Late-onset Pompe Disease, LOPD, ERT, Enzyme Replacement Therapy, NCT07123155, 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 will be administered orally.
ERTDrug
ERT will be administered as an intravenous infusion.
| Study group | Role | What they receive |
|---|---|---|
| S-606001 | Experimental | Participants will receive S-606001. Participants who were previously using enzyme replacement therapy (ERT) at the time of enrollment will receive the same regimen of ERT as standard of care. Receives: Drug: S-606001; Drug: ERT |
What is being measured
The primary outcome is the main question the study is designed to answer.
Number of Participants With Treatment-emergent Adverse Events
Measured: Baseline through Week 96
Secondary outcomes (10)
Change from Baseline in Percent Forced Vital Capacity (%FVC)
Measured: Baseline, Week 96
Change from Baseline in 6-minute Walk Test (6MWT)
Measured: Baseline, Week 96
Change from Baseline in Gait, Stair, Gower's Maneuver, and Chair (GSGC) Score
Measured: Baseline, Week 96
Change from Baseline in Daily Living Activity Levels as Assessed by the Investigator
Measured: Baseline, Week 96
Change from Baseline in Patient-Reported Outcomes Measurement Information System Fatigue Short Form 8a (PROMIS Fatigue-8a)
Measured: Baseline, Week 96
Change from Baseline in Patient-Reported Outcomes Measurement Information System Item Bank v2.0 - Physical Function - Short Form 20a (PROMIS-Item Bank-PF-20a)
Measured: Baseline, Week 96
Change from Baseline in Patient-Reported Outcomes Measurement Information System Dyspnea Characteristics (PROMIS-Dyspnea)
Measured: Baseline, Week 96
Change from Baseline in Patient-Reported Outcomes Measurement Information System v2.0 Pain Intensity 3a (PROMIS v2.0 Pain)
Measured: Baseline, Week 96
Change from Baseline in 36-item Short Form Health Survey (SF-36)
Measured: Baseline, Week 96
Change from Baseline in Patient Global Impression of Severity (PGI-S)
Measured: Baseline, Week 96
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted6 Aug 2026
- Study start2 Nov 2026 (estimated)
- Primary completion31 Aug 2028 (estimated)
- Study completion31 Aug 2028 (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
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 60 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Shionogi
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
- Investigators
- Medical Director, Study director, Shionogi Inc.
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07750990
- Sponsor's protocol ID
- 2507N1223
- Other IDs
- 2026-525915-15
- Status last verified
- Oct 2026
- First submitted
- 30 Jul 2026
- Last updated
- 13 Oct 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- Yes
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 13 Oct 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- A Phase 2, Open-label, Multicenter, Extension Study to Investigate the Long-term Safety and Efficacy of S-606001 in Patients With Late-onset Pompe Disease
- ClinicalTrials.gov ID
- NCT07750990
- Acronym / sponsor ID
- 2507N1223
- Conditions
- Pompe Disease
- Keywords
- S-606001, Late-onset Pompe Disease, LOPD, ERT, Enzyme Replacement Therapy, NCT07123155, Muscle glycogen synthase, Liver glycogen synthase
- Phase
- Phase 2
- Study type
- Interventional
- Recruitment status
- Not yet recruiting
- Enrolment
- 60 participants (estimated)
- Lead sponsor
- ShionogiIndustry (pharma, biotech, devices)
- Study start
- 2 Nov 2026 (estimated)
- Primary completion
- 31 Aug 2028 (estimated)
- Study completion
- 31 Aug 2028 (estimated)
- First posted
- 6 Aug 2026 (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 primary purpose of this study is to evaluate the long-term safety and tolerability profile of S-606001 in participants with LOPD.
Participants who completed other S-606001 studies (for example, NCT07123155), including participants in a S-606001 study whose allocated arm was terminated by the sponsor and who are willing to participate in this study, will be enrolled globally.
Study design
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| S-606001 | Experimental | Drug: S-606001, Drug: ERTParticipants will receive S-606001. Participants who were previously using enzyme replacement therapy (ERT) at the time of enrollment will receive the same regimen of ERT as standard of care. |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
Key inclusion criteria (2 listed)
- Participant must be ≥40 kilograms of body weight at the time of signing the informed consent
- Participants who previously completed a S-606001 Pompe treatment study, including participants whose assigned treatment arm was terminated by the sponsor
Key exclusion criteria (5 listed)
- 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
- Current enrollment in any other clinical study involving an investigational intervention or any other type of medical research
- Participant, if female, is pregnant or breastfeeding at visit 1
- Participant, whether male or female, is planning to conceive a child during the study
- Note: Other protocol-specified inclusion and exclusion criteria may apply.
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 will be administered orally. | Drug | S-606001 |
| ERTERT will be administered as an intravenous infusion. | Drug | S-606001 |
Primary outcome
Number of Participants With Treatment-emergent Adverse Events
Time frame: Baseline through Week 96
10 secondary outcomes
Change from Baseline in Percent Forced Vital Capacity (%FVC)
Time frame: Baseline, Week 96
Change from Baseline in 6-minute Walk Test (6MWT)
Time frame: Baseline, Week 96
Change from Baseline in Gait, Stair, Gower's Maneuver, and Chair (GSGC) Score
Time frame: Baseline, Week 96
Change from Baseline in Daily Living Activity Levels as Assessed by the Investigator
Time frame: Baseline, Week 96
Change from Baseline in Patient-Reported Outcomes Measurement Information System Fatigue Short Form 8a (PROMIS Fatigue-8a)
Time frame: Baseline, Week 96
Change from Baseline in Patient-Reported Outcomes Measurement Information System Item Bank v2.0 - Physical Function - Short Form 20a (PROMIS-Item Bank-PF-20a)
Time frame: Baseline, Week 96
Change from Baseline in Patient-Reported Outcomes Measurement Information System Dyspnea Characteristics (PROMIS-Dyspnea)
Time frame: Baseline, Week 96
Change from Baseline in Patient-Reported Outcomes Measurement Information System v2.0 Pain Intensity 3a (PROMIS v2.0 Pain)
Time frame: Baseline, Week 96
Change from Baseline in 36-item Short Form Health Survey (SF-36)
Time frame: Baseline, Week 96
Change from Baseline in Patient Global Impression of Severity (PGI-S)
Time frame: Baseline, Week 96
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 13 Oct 2026.
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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
Medical Director study director
Shionogi Inc.
Questions about this trial
What is this clinical trial studying?
A Phase 2 study testing S-606001 and ERT in people with Pompe Disease, run by Shionogi.
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 2 inclusion and 5 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: opening soon, as of the sponsor's last update on 13 Oct 2026. Status can change between updates, so confirm with the study contact before making plans.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. 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 (1-800-849-9707, 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?
Number of Participants With Treatment-emergent Adverse Events (time frame: Baseline through Week 96). 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 13 Oct 2026.