A phase 2, S-606001 in late-onset Pompe disease
Research type
Research Study
Full 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
IRAS ID
1012658
Contact name
EU Regulatory Affairs
Contact email
Sponsor organisation
Shionogi B.V.
Research summary
This is a study of the investigational medicine S-606001 in participants with late-onset Pompe disease (LOPD). Pompe disease is a rare genetic disorder caused by the lack of the enzyme acid alpha-glucosidase (GAA). GAA breaks down glycogen (a form of sugar that serves as energy storage) in muscle cells. Without sufficient GAA, glycogen builds up in muscles preventing them from working properly, particularly in voluntary muscles and heart muscles.
The researchers want to evaluate how safe S-606001 is and its and potential benefits (how effective it is), in people with LOPD, when compared to a placebo. Placebo looks like the investigational medicine but does not contain any active ingredient.
Enzyme Replacement Therapy (ERT) is the primary treatment for Pompe disease. It works by replacing the missing or deficient GAA enzyme. In this study the study medicine will be given to participants in addition to their current ERT.
The study will include adults, at least 18 years of age, with LOPD, and who are being treated with ERT for at least 2 years.This is a double-blind study, so neither the participants, nor the doctors will know who has received which study medicine.
Participants will go through a testing period of up to 4 weeks to see if they can take part. If so, they will be randomly assigned (by chance, like drawing straws) to receive either S-606001 or placebo. Participants will receive the study medicine in addition to their ERT for 52 weeks (about 1 year) and be followed for about 1 week after the last dose of study medicine. Total study duration will be 58 weeks.
After completion, participants may be given the option to enrol in a long-term extension study.
Shionogi is the sponsor funding the research.REC name
East of England - Cambridge South Research Ethics Committee
REC reference
25/EE/0177
Date of REC Opinion
30 Oct 2025
REC opinion
Further Information Favourable Opinion