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

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

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.

Why it matters

Who can join: the full rules

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 it's running

• University of California - Irvine Medical Center
  Irvine, California, United States Recruiting
• University of Florida (UF) - Gainesville
  Gainesville, Florida, United States Recruiting
• Emory University Hospital
  Atlanta, Georgia, United States Recruiting
• Washington University in St. Louis
  St Louis, Missouri, United States Recruiting
• Duke University Medical Center
  Durham, North Carolina, United States Recruiting
• Cincinnati Children's Hospital Medical Center
  Cincinnati, Ohio, United States Recruiting

Study contacts

• Study coordinator: Shionogi Clinical Trials Administrator Clinical Support Help Line
• Email: Shionogiclintrials-admin@shionogi.co.jp
• Phone: 800-849-9707

Similar studies

Other studies for the same condition or treatment. Recruiting studies are listed first.

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• Safety study of avalglucosidase alfa during pregnancy

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• Understanding brain and nerve changes in Pompe disease

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  Recruiting Duke University · Durham, North Carolina · NCT04639336

• Long-term follow-up for patients with Pompe disease receiving treatment

  This study is tracking patients with Pompe disease who are getting enzyme replacement therapy to see how well the treatment works over time.

  Recruiting National Taiwan University Hospital · Taipei · NCT02399748

How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.