Study of S-606001 as an Add-on to Enzyme Replacement Therapy (ERT) in Participants With Late-onset Pompe Disease (LOPD)
This research study is looking at a new investigational medicine called S-606001. It's for adults who have a condition called late-onset Pompe disease (LOPD) and are already receiving enzyme replacement therapy (ERT). The main goals are to find out if S-606001 is safe to use and how well people tolerate it. Researchers will also be checking to see how the medicine acts in the body and if it shows any signs of improving symptoms related to LOPD. Participants will receive either S-606001 or a placebo (a dummy medicine with no active ingredients) in addition to their regular ERT.
At a glance
What is this study about?
This study is exploring a new medicine, called S-606001, for adults who have a rare muscle condition called late-onset Pompe disease (LOPD). Pompe disease is a genetic condition that causes muscle weakness, which can affect movement and breathing. Many people with LOPD are already treated with a standard medication called enzyme replacement therapy (ERT). This new study wants to see if adding S-606001 to ERT can offer extra help.
The main reasons for doing this study are to make sure S-606001 is safe when given to people with LOPD and to understand how it works in the body. The research team will also be looking closely to see if taking S-606001 leads to any improvements in the symptoms of LOPD, which could include things like muscle strength or how far someone can walk.
Participants in the study will be given either S-606001 or a placebo (a treatment that looks exactly like the study medicine but contains no active ingredients). This is common in research to fairly compare the new medicine's effects. Everyone in the study will continue to receive their usual ERT throughout the trial.
Key takeaways
- This study tests a new medicine (S-606001) for late-onset Pompe disease.
- It's for adults already receiving standard enzyme replacement therapy (ERT).
- The study aims to check safety, how the medicine works, and if it improves symptoms.
- Participants will receive either S-606001 or a placebo alongside their ERT.
- Your health will be closely monitored throughout the study.
Who may be eligible?
To join this study, you need to be an adult at least 18 years old and weigh at least 40 kilograms (about 6 stone 4 pounds). You must have a confirmed diagnosis of late-onset Pompe disease, and this diagnosis needs to be based on specific medical tests, such as showing a lack of a certain enzyme or having particular gene changes.
Your breathing and walking ability will also be checked. For example, your lung function (measured by how much air you can breathe out) needs to be within a certain range, or show a specific change when you lie down. You also need to be able to walk at least 75 meters (about 250 feet) in six minutes, but not walk too easily, as the study is looking for potential improvements. Importantly, you must already be receiving enzyme replacement therapy (ERT) for at least two years and your ERT dose should not have changed in the last six months.
There are also some reasons why you wouldn't be able to join. These include having certain other serious medical conditions like active infections, specific types of cancer in the last five years, or severe liver disease. You also can't have received certain other experimental treatments for Pompe disease recently, or if you are pregnant or breastfeeding.
Could this study suit you?
Answer these quick questions to see if you may be eligible. This is a guide only — the research team makes the final call.
- Are you 18 years or older and weigh at least 40 kg (about 6 stone 4 pounds)?
- Do you have a doctor-confirmed diagnosis of late-onset Pompe disease?
- Have you been on regular enzyme replacement therapy (ERT) for at least two years, with no dose changes in the last six months?
- Can you walk at least 75 meters (about 250 feet) in 6 minutes, but not too easily (less than 90% of what's expected for a healthy person)?
- Are you free from certain other serious health conditions like active infections, specific recent cancers, or severe liver disease?
- Are you not pregnant or breastfeeding?
What does participation involve?
If you decide to take part in this study, you'll be given either the new investigational medicine, S-606001, or a placebo (a dummy medicine) in addition to your regular enzyme replacement therapy (ERT). You won't know which one you're receiving, and neither will your study doctor, to keep the results fair.
You will have regular visits to the clinic for check-ups, where doctors will monitor your health, perform physical exams, take blood and other samples, and assess your breathing and walking ability. These tests help the researchers understand how the medicine is affecting you. You'll continue your usual ERT treatment throughout the study. The total length of your participation, including follow-up, will be explained by the study team.
Potential risks and benefits
Locations (28)
- University of California - Irvine Medical CenterVerified postcodeIrvine, United States· Recruiting
- University of Florida (UF) - GainesvilleVerified postcodeGainesville, United States· Recruiting
- Emory University HospitalVerified postcodeAtlanta, United States· Recruiting
- Washington University in St. LouisVerified postcodeSt Louis, United States· Recruiting
- Duke University Medical CenterVerified postcodeDurham, United States· Recruiting
- Cincinnati Children's Hospital Medical CenterVerified postcodeCincinnati, United States· Recruiting
- University of PennsylvaniaVerified postcodePhiladelphia, United States· Recruiting
- University of Pittsburgh School of MedicineVerified postcodePittsburgh, United States· Recruiting
- Lysosomal and Rare Disorders Research and Treatment Center (LDRTC)Verified postcodeFairfax, United States· Recruiting
- UZ LeuvenVerified postcodeLeuven, Belgium· Recruiting
- Aarhus University HospitalVerified postcodeAarhus, Denmark· Recruiting
- HLC Hopital Pierre WertheimerVerified postcodeBron, France· Recruiting
Common questions
What is late-onset Pompe disease (LOPD)?
LOPD is a rare genetic condition where the body can't make enough of a certain enzyme, leading to muscle weakness that affects movement and breathing over time.
What is enzyme replacement therapy (ERT)?
ERT is a standard treatment for Pompe disease where the missing enzyme is given to the body, usually through an infusion.
What is a 'placebo'?
A placebo is a substance that looks exactly like the study medicine but doesn't contain any active ingredients. It's used in studies to fairly compare the effects of the new medicine.
Will I stop my current Pompe disease treatment if I join?
No, you will continue your regular enzyme replacement therapy (ERT) while participating in this study. S-606001 is being tested as an 'add-on' treatment.
How long will I be in the study?
The study team will provide you with the exact duration of your participation, including treatment and follow-up periods, during the initial discussions.
How to find out more
Shionogi Clinical Trials Administrator Clinical Support Help Line
Always speak to your GP or specialist before deciding to take part in a study.
Interested in taking part?
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