A Study of S-606001 as Monotherapy in Participants With Late-onset Pompe Disease (LOPD)

NCT07787650 | Not Yet Recruiting Phase 1 FDA Drug

• 2 other identifiers: 2407N12222026-526717-28
• Study Type: interventional
• Target: 15
• Locations: 0 countries
• Sites: N/A

Brief Summary

The primary purpose of this study is to evaluate the safety and tolerability profile of S-606001 in participants with LOPD.

Conditions

Pompe Disease

Keywords

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

Outcome Measures

Primary Outcomes (1)

• Number of Participants with Treatment-emergent Adverse Events

  Baseline (Day 1) through Week 49

Secondary Outcomes (7)

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

  Baseline (Day 1), Week 48

• Change From Baseline in Maximum Expiratory Capacity (MEP)

  Baseline (Day 1), Week 48

• Change From Baseline in Minimum Inspiratory Capacity (MIP)

  Baseline (Day 1), Week 48

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

  Baseline (Day 1), Week 48

• Change From Baseline in Gait, Stair, Gower's Maneuver, and Chair (GSGC) Score

  Baseline (Day 1), Week 48

Study Arms (1)

S-606001

EXPERIMENTAL

Participants will receive S-606001.

Drug: S-606001

Interventions

S-606001 DRUG

S-606001 will be administered orally as a tablet.

S-606001

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 ≥40 kilograms of body weight at the time of signing the informed consent form
• Participant must have a diagnosis of LOPD based on documentation 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 \>80% FVC in upright position and ≥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
• Participant must not have received enzyme replacement therapy (ERT) for at least 3 months prior to providing informed consent and enrollment and agrees not receive any type of ERT while participating in the study

You may not qualify if:

• Has a medical condition or any other extenuating circumstance that may, in the opinion of the investigator or medical monitor, 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 the muscle glycogen synthase gene or in the glycogen phosphorylase muscle associated gene
• 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 for Pompe disease within 2 years of screening or small interfering RNA therapy for Pompe disease within 6 months of screening
• 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

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

Study Officials

• Medical Director

  Shionogi Inc.

  STUDY DIRECTOR

Central Study Contacts

Shionogi Clinical Trials Administrator Clinical Support Help Line

CONTACT

1-800-849-9707; Shionogiclintrials-admin@shionogi.co.jp

Study Design

• Study Type: interventional
• Phase: phase 1
• Allocation: NA
• Masking: NONE
• Purpose: TREATMENT
• Intervention Model: SINGLE GROUP
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: August 24, 2026
• First Posted: August 26, 2026
• Study Start (Estimated): September 30, 2026
• Primary Completion (Estimated): October 31, 2028
• Study Completion (Estimated): October 31, 2028
• Last Updated: August 26, 2026

Record last verified: 2026-08