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

NCT07123155 | Recruiting Phase 2 DMC FDA Drug

• 2 other identifiers: 2405N12212025-522146-40
• Study Type: interventional
• Target: 45
• Locations: 9 countries
• Sites: 28

Brief Summary

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.

Conditions

Pompe Disease

Keywords

Late-onset Pompe disease; Enzyme replacement therapy; LOPD; ERT; S-606001; Muscle glycogen synthase; Liver glycogen synthase; Rare disease; Autosomal disease; Acid alpha-glucosidase; GAA; Glycogen storage disorder; GSD

Outcome Measures

Primary Outcomes (1)

• Change From Baseline in Percent Forced Vital Capacity (%FVC) at Week 52

  Baseline, Week 52

Secondary Outcomes (12)

• Number of Participants With Treatment-emergent Adverse Events (TEAEs)

  Baseline up to Week 53

• Plasma Concentration of S-606001

  Up to Week 12

• Change From Baseline in Serum Creatine Kinase Levels at Week 52

  Baseline, Week 52

• Change From Baseline in 6-minute Walk Test (6MWT) at Week 52

  Baseline, Week 52

• Change From Baseline in Pulmonary Function Parameter: Maximal Inspiratory Pressure (MIP) at Week 52

  Baseline, Week 52

Study Arms (3)

S-606001 Low Dose

EXPERIMENTAL

Participants will receive S-606001 at a low dose level twice daily (BID) after a meal for 52 weeks.

Drug: S-606001

S-606001 High Dose

EXPERIMENTAL

Participants will receive S-606001 at a high dose level BID after a meal for 52 weeks.

Drug: S-606001

Placebo

PLACEBO COMPARATOR

Participants will receive S-606001 matching placebo BID after a meal for 52 weeks.

Drug: Placebo

Interventions

S-606001 DRUG

S-606001 administered orally

S-606001 High Dose; S-606001 Low Dose

Placebo DRUG

S-606001 matching placebo administered orally

Placebo

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)

You may qualify if:

• 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:
• 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 ≥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
• 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.

You may not qualify if:

• 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.

Sponsors & Collaborators

• Shionogi: lead

Study Sites (28)

University of California - Irvine Medical Center

Irvine, California, 92868, United States

RECRUITING

University of Florida (UF) - Gainesville

Gainesville, Florida, 32611, United States

RECRUITING

Emory University Hospital

Atlanta, Georgia, 30322, United States

NOT YET RECRUITING

Washington University in St. Louis

St Louis, Missouri, 63130, United States

RECRUITING

Duke University Medical Center

Durham, North Carolina, 27710, United States

RECRUITING

Cincinnati Children's Hospital Medical Center

Cincinnati, Ohio, 45229, United States

RECRUITING

University of Pennsylvania

Philadelphia, Pennsylvania, 19104, United States

RECRUITING

University of Pittsburgh School of Medicine

Pittsburgh, Pennsylvania, 15213, United States

RECRUITING

Lysosomal and Rare Disorders Research and Treatment Center (LDRTC)

Fairfax, Virginia, 22030, United States

RECRUITING

UZ Leuven

Leuven, Belgium

RECRUITING

Aarhus University Hospital

Aarhus, Denmark

RECRUITING

HLC Hopital Pierre Wertheimer

Bron, France

RECRUITING

AP-HP Hopital Raymond Poincare

Garches, France

RECRUITING

Centre de Reference des Maladies Neuromusculaires et de la SLA - AP-HM Hopital de La Timone

Marseille, France

RECRUITING

CHU de Nice - Hopital Pasteur 2 - Centre de reference des Maladies Neuromusculaires

Nice, France

NOT YET RECRUITING

Universitaetsklinikum Halle (Saale)

Halle, Germany

RECRUITING

SphinCS GmbH

Höchheim, Germany

RECRUITING

Klinikum der Ludwig-Maximilians-Universitaet Muenchen

München, Germany

RECRUITING

A.O.U. Policlinico "G. Martino"

Messina, Italy

NOT YET RECRUITING

AOU Citta della Salute e della Scienza di Torino - Ospedale le Molinette

Torino, Italy

RECRUITING

Erasmus MC

GE Rotterdam, GE Rotterdam, Netherlands

RECRUITING

Hospital Universitario 12 de Octubre

Madrid, Spain

RECRUITING

Hospital Universitari i Politecnic La Fe

Valencia, Spain

RECRUITING

Salford Royal Hospital

Statford, Statford, United Kingdom

RECRUITING

Queen Elizabeth Hospital Birmingham

Birmingham, United Kingdom

NOT YET RECRUITING

National Hospital for Neurology & Neurosurgery

London, United Kingdom

NOT YET RECRUITING

Royal Free London NHS Foundation Trust

London, United Kingdom

RECRUITING

Royal Victoria Infirmary

Newcastle upon Tyne, United Kingdom

RECRUITING

MeSH Terms

Conditions

Glycogen Storage Disease Type II; Rare Diseases; Glycogen Storage Disease

Condition Hierarchy (Ancestors)

Lysosomal Storage Diseases, Nervous System; Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Carbohydrate Metabolism, Inborn Errors; Lysosomal Storage Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases; Disease Attributes; Pathologic Processes; Pathological Conditions, Signs and Symptoms

Central Study Contacts

Shionogi Clinical Trials Administrator Clinical Support Help Line

CONTACT

800-849-9707; Shionogiclintrials-admin@shionogi.co.jp

Study Design

• Study Type: interventional
• Phase: phase 2
• Allocation: RANDOMIZED
• Masking: QUADRUPLE
• Who Masked: PARTICIPANT, CARE PROVIDER, INVESTIGATOR, OUTCOMES ASSESSOR
• Purpose: TREATMENT
• Intervention Model: PARALLEL
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: July 25, 2025
• First Posted: August 14, 2025
• Study Start: October 30, 2025
• Primary Completion (Estimated): August 8, 2027
• Study Completion (Estimated): August 8, 2027
• Last Updated: April 30, 2026

Record last verified: 2026-04

Locations

DK (1); ES (2); GB (5); FR (4); US (9); IT (2); BE (1); DE (3); NL (1)