In short
S-606001 is an investigational medicine being studied as an add-on treatment for adults with late-onset Pompe disease (LOPD). It is a chemically synthesised substance taken orally as a film-coated tablet. The only registered trial is a Phase 2, randomised, double-blind, placebo-controlled study in 47 participants, all of whom are already receiving enzyme replacement therapy (ERT).
Key points
- S-606001 is an investigational oral medicine, not yet authorised for any condition.
- The single registered trial is a Phase 2, randomised, double-blind, placebo-controlled study.
- It is being tested in 47 adults with late-onset Pompe disease.
- Participants must have been on enzyme replacement therapy (ERT) for at least 2 years.
- The main measure is change in lung function (percent predicted forced vital capacity, %FVC) at 52 weeks.
- The trial is currently authorised but not yet reporting results.
What is S-606001?
S-606001 is a chemically synthesised substance under investigation as an add-on treatment for late-onset Pompe disease (LOPD). It is classified in the therapeutic area of nutritional and metabolic diseases. The product records list no marketing authorisation, meaning S-606001 is an investigational substance and not yet approved as a medicine. The company supplying the product is Shionogi B.V.
The study sponsor describes S-606001 as an investigational medicine being evaluated for safety and potential benefits when added to enzyme replacement therapy (ERT) in people with LOPD.
How does S-606001 work?
The available sources do not describe the exact mechanism of action of S-606001. Pompe disease itself is a rare genetic disorder caused by a lack of the enzyme acid alpha-glucosidase (GAA). Without enough GAA, glycogen builds up in muscle cells and prevents them from working properly, particularly in voluntary muscles and heart muscles. Enzyme replacement therapy is the primary treatment and works by replacing the missing or deficient GAA enzyme. S-606001 is being studied as an add-on to this existing therapy, but the way it might help is not explained in the current sources.
Which conditions is it used or studied for?
- Late-onset Pompe disease (LOPD) — a rare genetic disorder in which glycogen accumulates in muscles, causing muscle weakness and breathing problems. S-606001 is being tested in adults with this condition who are already on enzyme replacement therapy.
How is S-606001 given?
S-606001 is given orally as a film-coated tablet. The trial includes two dose strengths, 300 mg and 600 mg, taken by mouth. The study medicine is added to the participant's current enzyme replacement therapy, which continues as usual.
What do the clinical trials show?
There is one registered clinical trial of S-606001: a Phase 2, randomised, double-blind, placebo-controlled study in 47 adults with late-onset Pompe disease. The trial is currently authorised, meaning it has received regulatory approval to proceed, but no results have been published yet.
The main outcome being measured is the change from baseline in percent predicted forced vital capacity (%FVC) at 52 weeks. Forced vital capacity is the amount of air a person can forcefully exhale after taking a deep breath, expressed as a percentage of what is expected for a healthy person of similar age, sex, and height.
Participants are randomly assigned to receive either S-606001 (300 mg or 600 mg) or a matching placebo. Neither the participants nor the doctors know which treatment each person receives, which is what makes the study double-blind. To take part, adults must be at least 18 years old, have LOPD, and have been treated with enzyme replacement therapy for at least 2 years. A testing period of up to 4 weeks is used to check whether a person can join the study.
What side effects are known?
No side effects of S-606001 have been reported in the available sources. The trial is designed to evaluate safety, but results are not yet available.