2405N1221

Investigational Medication for Late-Onset Pompe Disease: Evaluating Safety and Efficacy

Recruiting
18 years or above
All
Phase 2
45 participants needed
1 Location

Brief description of study

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.

Eligibility of study

You may be eligible for this study if you meet the following criteria:

  • Conditions: Pompe Disease
  • Age: 18 years or above
  • Gender: All

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.

This study evaluates the safety, pharmacodynamics, and exploratory clinical efficacy of an investigational medication as an add-on treatment for LOPD.

The focus is on assessing how safe and effective the investigational medication is when used in combination with existing treatments.

  • Who can participate: Adults aged 18 or older, weighing at least 40 kg, with a diagnosis of LOPD can participate. Participants must have prior experience with ERT and meet specific health criteria.
  • Study details: Participants will receive an investigational medication in addition to their current treatment. A placebo, an inactive substance that looks like the investigational medication but does not contain any medicine, may be used for comparison.
Updated on 23 Jun 2026. Study ID: 25-1419

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