Menu
Recruiting NCT07123155

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

Phase II Interventional Pompe Disease

For patients and families

In plain language

An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.

What is being studied
The protocol lists: S-606001, Placebo.
Who it may be relevant to
Registry conditions: Pompe Disease. Basic parameters: from 18 years · All.
What needs checking
Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
Where it takes place
United States, Belgium, Denmark, France, Germany +4
Next step
Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →

Unsure about the terms? Read our patient guide →

Official title

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

Overview

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.

Interventions

  • Drug S-606001
    S-606001 administered orally
  • Drug Placebo
    S-606001 matching placebo administered orally

Primary outcome measures

  • Change From Baseline in Percent Forced Vital Capacity (%FVC) at Week 52 [Time frame: Baseline, Week 52]
Secondary outcome measures (12)
  • Number of Participants With Treatment-emergent Adverse Events (TEAEs) [Time frame: Baseline up to Week 53]
  • Plasma Concentration of S-606001 [Time frame: Up to Week 12]
  • Change From Baseline in Serum Creatine Kinase Levels at Week 52 [Time frame: Baseline, Week 52]
  • Change From Baseline in 6-minute Walk Test (6MWT) at Week 52 [Time frame: Baseline, Week 52]
  • Change From Baseline in Pulmonary Function Parameter: Maximal Inspiratory Pressure (MIP) at Week 52 [Time frame: Baseline, Week 52]
  • Change From Baseline in Pulmonary Function Parameter: Maximal Expiratory Pressure (MEP) at Week 52 [Time frame: Baseline, Week 52]
  • Change From Baseline in Motor Function Parameter: Gait, Stair, Gower's Maneuver, Chair (GSGC) Score at Week 52 [Time frame: Baseline, Week 52]
  • Change From Baseline in Patient-Reported Outcomes Measurement Information System Fatigue Short Form 8a (PROMIS-Fatigue-8a) Score at Week 52 [Time frame: Baseline, Week 52]
  • Change From Baseline in Patient-Reported Outcomes Measurement Information System Physical Function 20-item short form (PROMIS-PF-20) Score at Week 52 [Time frame: Baseline, Week 52]
  • Change From Baseline in Patient-Reported Outcomes Measurement Information System v2.0 Pain Intensity 3a (PROMIS v2.0 PAIN) Score at Week 52 [Time frame: Baseline, Week 52]
  • Change From Baseline in 36-item Short Form Health Survey (SF-36) Score at Week 52 [Time frame: Baseline, Week 52]
  • Change From Baseline in Patient Global Impression of Severity (PGI-S) Score at Week 52 [Time frame: Baseline, Week 52]

Eligibility criteria

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:
  • 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.

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.

Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.

Healthy volunteers: No

Study design

Allocation
Randomized
Model
Parallel assignment
Masking
Quadruple blind
Primary purpose
Treatment

Study locations

United States · 9 centers
  • University of California - Irvine Medical Center — Irvine
  • University of Florida (UF) - Gainesville — Gainesville
  • Emory University Hospital — Atlanta
  • Washington University in St. Louis — St Louis
  • Duke University Medical Center — Durham
  • Cincinnati Children's Hospital Medical Center — Cincinnati
  • University of Pennsylvania — Philadelphia
  • University of Pittsburgh School of Medicine — Pittsburgh
  • … and 1 more center
United Kingdom · 5 centers
  • Queen Elizabeth Hospital Birmingham — Birmingham
  • National Hospital for Neurology & Neurosurgery — London
  • Royal Free London NHS Foundation Trust — London
  • Royal Victoria Infirmary — Newcastle upon Tyne
  • Salford Royal Hospital — Salford
France · 4 centers
  • HLC Hopital Pierre Wertheimer — Bron
  • AP-HP Hopital Raymond Poincare — Garches
  • Centre de Reference des Maladies Neuromusculaires et de la SLA - AP-HM Hopital de La Timon — Marseille
  • CHU de Nice - Hopital Pasteur 2 - Centre de reference des Maladies Neuromusculaires — Nice
Germany · 3 centers
  • Universitaetsklinikum Halle (Saale) — Halle
  • SphinCS GmbH — Höchheim
  • Klinikum der Ludwig-Maximilians-Universitaet Muenchen — München
Italy · 2 centers
  • A.O.U. Policlinico "G. Martino" — Messina
  • AOU Citta della Salute e della Scienza di Torino - Ospedale le Molinette — Torino
Spain · 2 centers
  • Hospital Universitario 12 de Octubre — Madrid
  • Hospital Universitari i Politecnic La Fe — Valencia
Belgium · 1 center
  • UZ Leuven — Leuven
Denmark · 1 center
  • Aarhus University Hospital — Aarhus
Netherlands · 1 center
  • Erasmus MC — GE Rotterdam

Identifiers

NCT: NCT07123155 · 2405N1221 · 2025-522146-40

Primary sources (government registries)

View this study on ClinicalTrials.gov ↗