Pompe DiseasePhase 1NCT07787650
A Study of S-606001 as Monotherapy in Participants With Late-onset Pompe Disease (LOPD)
A Phase 1 study testing S-606001 in people with Pompe Disease, run by Shionogi.
Trial summary
The primary purpose of this study is to evaluate the safety and tolerability profile of S-606001 in participants with LOPD. 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?
- No, everyone receives an active treatment
- How many people
- 15 participants
- Where
- No sites listed yet
- Study dates
- 30 Sep 2026to 31 Oct 2028
- Phase
- Phase 1
- 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 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
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
- 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
Show all 10Show fewer
- 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 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 1b, Multicenter, Single-arm, Open-label Study to Investigate the Safety, Pharmacokinetics, Pharmacodynamics, and Exploratory Efficacy of S-606001 as a Monotherapy in Adult Patients With Late-onset Pompe Disease
The primary purpose of this study is to evaluate the safety and tolerability profile of S-606001 in participants with LOPD.
- Conditions
- Pompe Disease
- Being tested
- S-606001
- 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
- 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 as a tablet.
| Study group | Role | What they receive |
|---|---|---|
| S-606001 | Experimental | Participants will receive S-606001. Receives: Drug: S-606001 |
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 (Day 1) through Week 49
Secondary outcomes (7)
Change From Baseline in Percent Forced Vital Capacity (%FVC)
Measured: Baseline (Day 1), Week 48
Change From Baseline in Maximum Expiratory Capacity (MEP)
Measured: Baseline (Day 1), Week 48
Change From Baseline in Minimum Inspiratory Capacity (MIP)
Measured: Baseline (Day 1), Week 48
Change From Baseline in 6-minute Walk Test (6MWT)
Measured: Baseline (Day 1), Week 48
Change From Baseline in Gait, Stair, Gower's Maneuver, and Chair (GSGC) Score
Measured: Baseline (Day 1), Week 48
Change from Baseline in Daily Living Activity Levels as Assessed by the Investigator
Measured: Baseline (2-4 weeks prior to Day 1), Week 48
Plasma Concentration of S-606001 and Metabolites
Measured: Up to Week 28
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted26 Aug 2026
- Study start30 Sep 2026 (estimated)
- Primary completion31 Oct 2028 (estimated)
- Study completion31 Oct 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 1
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 15 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
- NCT07787650
- Sponsor's protocol ID
- 2407N1222
- Other IDs
- 2026-526717-28
- Status last verified
- Aug 2026
- First submitted
- 24 Aug 2026
- Last updated
- 26 Aug 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 26 Aug 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- A Phase 1b, Multicenter, Single-arm, Open-label Study to Investigate the Safety, Pharmacokinetics, Pharmacodynamics, and Exploratory Efficacy of S-606001 as a Monotherapy in Adult Patients With Late-onset Pompe Disease
- ClinicalTrials.gov ID
- NCT07787650
- Acronym / sponsor ID
- 2407N1222
- Conditions
- Pompe Disease
- Keywords
- S-606001, Late-onset Pompe Disease, LOPD, Muscle glycogen synthase, Liver glycogen synthase, Rare disease, Autosomal disease, Acid alpha-glucosidase
- Phase
- Phase 1
- Study type
- Interventional
- Recruitment status
- Not yet recruiting
- Enrolment
- 15 participants (estimated)
- Lead sponsor
- ShionogiIndustry (pharma, biotech, devices)
- Study start
- 30 Sep 2026 (estimated)
- Primary completion
- 31 Oct 2028 (estimated)
- Study completion
- 31 Oct 2028 (estimated)
- First posted
- 26 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 safety and tolerability profile of S-606001 in participants with LOPD.
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-606001Participants will receive S-606001. |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
Key inclusion criteria (5 listed)
- 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 (10 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
- 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
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 as a tablet. | Drug | S-606001 |
Primary outcome
Number of Participants with Treatment-emergent Adverse Events
Time frame: Baseline (Day 1) through Week 49
7 secondary outcomes
Change From Baseline in Percent Forced Vital Capacity (%FVC)
Time frame: Baseline (Day 1), Week 48
Change From Baseline in Maximum Expiratory Capacity (MEP)
Time frame: Baseline (Day 1), Week 48
Change From Baseline in Minimum Inspiratory Capacity (MIP)
Time frame: Baseline (Day 1), Week 48
Change From Baseline in 6-minute Walk Test (6MWT)
Time frame: Baseline (Day 1), Week 48
Change From Baseline in Gait, Stair, Gower's Maneuver, and Chair (GSGC) Score
Time frame: Baseline (Day 1), Week 48
Change from Baseline in Daily Living Activity Levels as Assessed by the Investigator
Time frame: Baseline (2-4 weeks prior to Day 1), Week 48
Plasma Concentration of S-606001 and Metabolites
Time frame: Up to Week 28
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 26 Aug 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 1 study testing S-606001 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 5 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: opening soon, as of the sponsor's last update on 26 Aug 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 1 studies test a treatment in a small group of people for the first time or in a new way, mainly to check safety and find the right dose.
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 (Day 1) through Week 49). 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 26 Aug 2026.