An Extension Study of S-606001 in Participants With Late-onset Pompe Disease (LOPD)

NCT07750990 | Not Yet Recruiting Phase 2 FDA Drug

• 2 other identifiers: 2507N12232026-525915-15
• Study Type: interventional
• Target: 60
• Locations: 0 countries
• Sites: N/A

Brief Summary

The primary purpose of this study is to evaluate the long-term safety and tolerability profile of S-606001 in participants with LOPD. Participants who completed other S-606001 studies (for example, NCT07123155), including participants in a S-606001 study whose allocated arm was terminated by the sponsor and who are willing to participate in this study, will be enrolled globally.

Conditions

Pompe Disease

Keywords

S-606001; Late-onset Pompe Disease; LOPD; ERT; Enzyme Replacement Therapy; NCT07123155; 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 through Week 96

Secondary Outcomes (10)

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

  Baseline, Week 96

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

  Baseline, Week 96

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

  Baseline, Week 96

• Change from Baseline in Daily Living Activity Levels as Assessed by the Investigator

  Baseline, Week 96

• Change from Baseline in Patient-Reported Outcomes Measurement Information System Fatigue Short Form 8a (PROMIS Fatigue-8a)

  Baseline, Week 96

Study Arms (1)

S-606001

EXPERIMENTAL

Participants will receive S-606001. Participants who were previously using enzyme replacement therapy (ERT) at the time of enrollment will receive the same regimen of ERT as standard of care.

Drug: S-606001; Drug: ERT

Interventions

S-606001 DRUG

S-606001 will be administered orally.

S-606001

ERT DRUG

ERT will be administered as an intravenous infusion.

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
• Participants who previously completed a S-606001 Pompe treatment study, including participants whose assigned treatment arm was terminated by the sponsor

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
• Current enrollment in any other clinical study involving an investigational intervention or any other type of medical research
• Participant, if female, is pregnant or breastfeeding at visit 1
• 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 2
• Allocation: NA
• Masking: NONE
• Purpose: TREATMENT
• Intervention Model: SINGLE GROUP
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: July 30, 2026
• First Posted: August 6, 2026
• Study Start (Estimated): August 31, 2026
• Primary Completion (Estimated): August 31, 2028
• Study Completion (Estimated): August 31, 2028
• Last Updated: August 6, 2026

Record last verified: 2026-08