Clinical Trials in Spain / NCT07123155
Recruiting
Phase 2
Study of S-606001 as an Add-on to Enzyme Replacement Therapy (ERT) in Participants With Late-onset Pompe Disease (LOPD)
NCT07123155 · tracked via the Priya Life Science Spain tracker
Condition(s) studied
Pompe Disease
Investigational drug(s) / intervention(s)
S-606001Placebo
S-606001: S-606001 administered orally
Placebo: S-606001 matching placebo administered orally
Study 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.
Eligibility
Key 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:
1. Deficiency of acid alpha-glucosidase (GAA) enzyme
2. 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:
1. Screening values of 6-minute walk distance (6MWD) are ≥75 meters
2. 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.
Key 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.
Primary outcome measure(s)
- Change From Baseline in Percent Forced Vital Capacity (%FVC) at Week 52 — Baseline, Week 52
Trial sites (28)
| Facility | City | Region | Status |
|---|---|---|---|
| University of California - Irvine Medical Center | Irvine | California | Recruiting |
| University of Florida (UF) - Gainesville | Gainesville | Florida | Recruiting |
| Emory University Hospital | Atlanta | Georgia | Recruiting |
| Washington University in St. Louis | St Louis | Missouri | Recruiting |
| Duke University Medical Center | Durham | North Carolina | Recruiting |
| Cincinnati Children's Hospital Medical Center | Cincinnati | Ohio | Recruiting |
| University of Pennsylvania | Philadelphia | Pennsylvania | Recruiting |
| University of Pittsburgh School of Medicine | Pittsburgh | Pennsylvania | Recruiting |
| Lysosomal and Rare Disorders Research and Treatment Center (LDRTC) | Fairfax | Virginia | 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 | Recruiting |
| AOU Citta della Salute e della Scienza di Torino - Ospedale le Molinette | Torino | Italy | Recruiting |
| Erasmus MC | GE Rotterdam | GE Rotterdam | Recruiting |
| Hospital Universitario 12 de Octubre | Madrid | Spain | Recruiting |
| Hospital Universitari i Politecnic La Fe | Valencia | Spain | Recruiting |
| Queen Elizabeth Hospital Birmingham | Birmingham | United Kingdom | Recruiting |
| National Hospital for Neurology & Neurosurgery | London | United Kingdom | Recruiting |
| Royal Free London NHS Foundation Trust | London | United Kingdom | Recruiting |
| Royal Victoria Infirmary | Newcastle upon Tyne | United Kingdom | Recruiting |
| Salford Royal Hospital | Salford | United Kingdom | Recruiting |
Official registry record
This page summarises publicly available registry data for informational purposes — not medical advice. Eligibility is determined by each study team; patients should discuss participation with their clinician.
View NCT07123155 on ClinicalTrials.gov ↗ ← All trials in Spain