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S-606001 added to enzyme replacement therapy for adults with late-onset Pompe disease

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

PHASE2 · Shionogi Inc. · NCT07123155

This trial tests whether adding S-606001 to ongoing enzyme replacement therapy is safe and can improve walking distance and breathing in adults with late-onset Pompe disease.

Quick facts

PhasePHASE2
Study typeInterventional
Enrollment45 (estimated)
Ages18 Years and up
SexAll
SponsorShionogi Inc. (industry)
Locations28 sites (Irvine, California and 27 other locations)
Trial IDNCT07123155 on ClinicalTrials.gov

What this trial studies

This is a randomized, placebo-controlled Phase 2 add-on trial of S-606001 in adults with late-onset Pompe disease who remain on stable enzyme replacement therapy. Eligible participants must have documented GAA deficiency or genotype, be at least 18 years old and ≥40 kg, meet specified respiratory (FVC) and 6-minute walk distance criteria, and have been receiving ERT for at least 24 months with no recent regimen change. The study will collect safety data, pharmacodynamic markers, and exploratory clinical outcomes such as 6-minute walk distance and forced vital capacity over the treatment period. Study visits are conducted at academic centers in Irvine, Gainesville, and Atlanta.

Who should consider this trial

Good fit: Adults (≥18 years, ≥40 kg) with enzymatic or genetic confirmation of late-onset Pompe disease who have been on a stable ERT regimen for ≥24 months, can walk ≥75 meters on the 6MWT, and meet the trial's FVC criteria are ideal candidates.

Not a fit: Patients with very advanced respiratory failure, those unable to complete the 6-minute walk test, those not on long-term stable ERT, or those with recent ERT regimen changes are unlikely to benefit from participation.

Why it matters

Potential benefit: If successful, adding S-606001 to standard ERT could improve walking ability and respiratory function or slow disease progression in people with late-onset Pompe disease.

How similar studies have performed: Adjunctive therapies added to ERT for Pompe disease have been explored with limited and variable results, and S-606001 is a novel investigational agent with limited prior data in LOPD.

Eligibility criteria

Show full inclusion / exclusion criteria 
Key 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:

  1. Deficiency of acid alpha-glucosidase (GAA) enzyme
  2. 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:

  1. Screening values of 6-minute walk distance (6MWD) are ≥75 meters
  2. 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.

Where this trial is running

Irvine, California and 27 other locations

Study contacts

How to participate

  1. Review the eligibility criteria above with your treating physician.
  2. Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
  3. Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.

View on ClinicalTrials.gov →

Conditions: Pompe Disease, Late-onset Pompe disease, Enzyme replacement therapy, LOPD, ERT, S-606001, Muscle glycogen synthase, Liver glycogen synthase

Last reviewed 2026-05-15 by the Find a Trial editorial team. Information on this page is for educational purposes and is not medical advice. Always consult qualified healthcare professionals about clinical trial participation.