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RECRUITINGPhase 2INTERVENTIONAL

Study of S-606001 as an Add-on to Enzyme Replacement Therapy (ERT) in Participants With Late-onset Pompe Disease (LOPD)

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

Important: This information is not medical advice. Talk to your doctor about whether a clinical trial is right for you.

About This Trial

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.

Who May Be Eligible (Plain English)

Key Who May Qualify: - Participant must be ≥18 years of age and ≥40 kilograms (kg) of body weight at the time of signing the willing to sign a consent form. - 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 Who Should NOT Join This Trial: - 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. ...See full criteria on ClinicalTrials.gov Always talk to your doctor about whether this trial is right for you.

Original Eligibility Criteria

View original clinical language
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.

Treatments Being Tested

DRUG

S-606001

S-606001 administered orally

DRUG

Placebo

S-606001 matching placebo administered orally

Locations (20)

University of California - Irvine Medical Center
Irvine, California, United States
University of Florida (UF) - Gainesville
Gainesville, Florida, United States
Emory University Hospital
Atlanta, Georgia, United States
Washington University in St. Louis
St Louis, Missouri, United States
Duke University Medical Center
Durham, North Carolina, United States
Cincinnati Children's Hospital Medical Center
Cincinnati, Ohio, United States
University of Pennsylvania
Philadelphia, Pennsylvania, United States
University of Pittsburgh School of Medicine
Pittsburgh, Pennsylvania, United States
Lysosomal and Rare Disorders Research and Treatment Center (LDRTC)
Fairfax, Virginia, United States
UZ Leuven
Leuven, Belgium
Aarhus University Hospital
Aarhus, Denmark
HLC Hopital Pierre Wertheimer
Bron, France
AP-HP Hopital Raymond Poincare
Garches, France
Centre de Reference des Maladies Neuromusculaires et de la SLA - AP-HM Hopital de La Timone
Marseille, France
CHU de Nice - Hopital Pasteur 2 - Centre de reference des Maladies Neuromusculaires
Nice, France
Universitaetsklinikum Halle (Saale)
Halle, Germany
SphinCS GmbH
Höchheim, Germany
Klinikum der Ludwig-Maximilians-Universitaet Muenchen
München, Germany
A.O.U. Policlinico "G. Martino"
Messina, Italy
AOU Citta della Salute e della Scienza di Torino - Ospedale le Molinette
Torino, Italy