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
Sex
ALL
Min age
18 Years
Max age
—
Healthy volunteers
No
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
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.
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