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

Официальное название

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

Обзор

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.

Вмешательства

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

Первичные конечные точки

• Change From Baseline in Percent Forced Vital Capacity (%FVC) at Week 52 [Срок оценки: Baseline, Week 52]

Вторичные конечные точки (12)

• Number of Participants With Treatment-emergent Adverse Events (TEAEs) [Срок оценки: Baseline up to Week 53]
• Plasma Concentration of S-606001 [Срок оценки: Up to Week 12]
• Change From Baseline in Serum Creatine Kinase Levels at Week 52 [Срок оценки: Baseline, Week 52]
• Change From Baseline in 6-minute Walk Test (6MWT) at Week 52 [Срок оценки: Baseline, Week 52]
• Change From Baseline in Pulmonary Function Parameter: Maximal Inspiratory Pressure (MIP) at Week 52 [Срок оценки: Baseline, Week 52]
• Change From Baseline in Pulmonary Function Parameter: Maximal Expiratory Pressure (MEP) at Week 52 [Срок оценки: Baseline, Week 52]
• Change From Baseline in Motor Function Parameter: Gait, Stair, Gower's Maneuver, Chair (GSGC) Score at Week 52 [Срок оценки: Baseline, Week 52]
• Change From Baseline in Patient-Reported Outcomes Measurement Information System Fatigue Short Form 8a (PROMIS-Fatigue-8a) Score at Week 52 [Срок оценки: 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 [Срок оценки: 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 [Срок оценки: Baseline, Week 52]
• Change From Baseline in 36-item Short Form Health Survey (SF-36) Score at Week 52 [Срок оценки: Baseline, Week 52]
• Change From Baseline in Patient Global Impression of Severity (PGI-S) Score at Week 52 [Срок оценки: Baseline, Week 52]

Критерии участия

Критерии включения

• 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.

Критерии исключения

• 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.

Критерии приведены из реестра в оригинале (на английском). Окончательную оценку соответствия проводит исследовательский центр.

Здоровые добровольцы: Нет

Дизайн исследования

Распределение

Рандомизированное

Модель

Параллельные группы

Маскирование

Четверное слепое

Основная цель

Лечение

Центры проведения

США · 9 центров

• 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
• … и ещё 1 центр

Великобритания · 5 центров

• 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

Франция · 4 центра

• 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

Германия · 3 центра

• Universitaetsklinikum Halle (Saale) — Halle
• SphinCS GmbH — Höchheim
• Klinikum der Ludwig-Maximilians-Universitaet Muenchen — München

Италия · 2 центра

• A.O.U. Policlinico "G. Martino" — Messina
• AOU Citta della Salute e della Scienza di Torino - Ospedale le Molinette — Torino

Испания · 2 центра

• Hospital Universitario 12 de Octubre — Madrid
• Hospital Universitari i Politecnic La Fe — Valencia

Бельгия · 1 центр

• UZ Leuven — Leuven

Дания · 1 центр

• Aarhus University Hospital — Aarhus

Нидерланды · 1 центр

• Erasmus MC — GE Rotterdam

Идентификаторы

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

Первоисточники (государственные реестры)

• ClinicalTrials.gov (NIH, США)

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