A Phase 1/2 Study to Assess the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of BMN 351 in Participants With Duchenne Muscular Dystrophy
This study is for boys aged 4 to 10 who have Duchenne muscular dystrophy (DMD) and a specific genetic change that doctors believe can be helped by a treatment called exon 51 skipping. The main goal is to check the safety of a new medicine, BMN 351, and to see what effects it has on the body at different doses. Researchers also want to find out how well people can cope with the medicine (tolerability). This is an early-stage study, split into two phases, Phase 1 and Phase 2. They will start with very small doses and gradually increase them, carefully watching for any side effects. About 18 boys will take part, and all will receive the study medicine.
At a glance
What is this study about?
This research is looking into a new medicine called BMN 351 for boys with Duchenne muscular dystrophy (DMD). DMD is a condition that causes muscles to weaken over time. This particular study is for boys who have a specific genetic change in their body that doctors think might respond to a treatment method called 'exon 51 skipping'. Think of your genes as instructions for your body; sometimes a small part of the instructions (an exon) can have a mistake, and 'skipping' it might help the body to make a more useful protein.
The main aim of this study is to find out if BMN 351 is safe for people to take and how well their bodies handle different amounts of the medicine. It's a very early-stage study, often called Phase 1 and Phase 2. This means it's one of the first times this medicine is being given to people, so doctors will start with very small doses and slowly increase them while carefully checking for any problems or side effects. They also want to understand how the medicine works in the body and what effects it might have.
About 18 boys will be involved in this study. They will be split into different groups, and each group will receive different dosing plans. Some will start with increasing doses, while others will start at a low, medium, or high dose and continue with that dose. The information gathered from this study will help doctors learn more about BMN 351 and decide if it can move forward into larger studies in the future.
Key takeaways
- This study is testing a new medicine (BMN 351) for Duchenne muscular dystrophy.
- It's for boys aged 4-10 with a specific genetic change (exon 51 skipping).
- The main goals are to check the medicine's safety and how the body handles it.
- About 18 boys will take part, receiving different doses of the medicine.
- Participants must be able to walk and be on steroid treatment.
- It's an early-stage trial, so potential benefits are not guaranteed.
Who may be eligible?
This study is looking for boys with Duchenne muscular dystrophy (DMD) who are between 4 and 10 years old. An important requirement is that they must have a specific genetic change that doctors believe could respond to a treatment method called 'exon 51 skipping'. Boys taking part must also be able to walk on their own and not need a machine to help them breathe.
Another important point is that participants need to have been on a steady dose of steroid medicine for at least 12 weeks before joining the study.
There are also some reasons why someone might not be able to join. For example, if they have had other treatments for DMD that involve gene therapy at any point, or if they have used another 'exon skipping' medicine in the 12 weeks before the study starts, they won't be able to take part. Doctors will also need to do some tests on heart and lung function at the beginning of the study to make sure it's safe to participate.
- Are you a boy?
- Are you between 4 and 10 years old?
- Do you have Duchenne muscular dystrophy with an 'exon 51 skipping' genetic change?
- Can you walk on your own?
- Are you currently taking a steady dose of steroid medicine for at least 12 weeks?
- Have you *not* had gene therapy or another 'exon skipping' medicine in the last 12 weeks?
This is a guide only — the research team will confirm whether you can take part.
What does participation involve?
If you decide to take part, the study will involve several visits to the clinic. You will be assigned to a group, and the amount of BMN 351 medicine you receive will depend on your group. Some participants will start with small doses that gradually get bigger every two weeks, with safety checks done shortly after each dose. Later, these participants will switch to receiving the medicine once a week. Other groups will start directly on a low, medium, or high dose and continue that dose once a week.
During your visits, doctors and nurses will carefully monitor your health, take blood samples, and perform other tests to check how the medicine is affecting you and to look for any side effects. They will want to assess your heart and lung function, for example. The total length of your participation in the study will be explained by the study team, but it will involve ongoing visits and assessments.
Potential risks and benefits
Locations (8)
- Children's Hospital LHSCLondon, Canada· Recruiting
- Fondazione Serena ETS - Centro Clinico NeMO MilanoMilan, Italy· Recruiting
- UOC Fase I - Fondazione Policlinico Universitario A. Gemelli IRCCS - Universita Cattolica del Sacro CuoreRome, Italy· Recruiting
- Leids Universitair Medisch CentrumLeiden, Netherlands· Recruiting
- Hospital Sant Joan de DeuBarcelona, Spain· Recruiting
- Hospital Viamed Santa Angela De la CruzSeville, Spain· Recruiting
- Yeditepe University Kosuyolu HospitalIstanbul, Turkey (Türkiye)· Recruiting
- Great Ormond Street Hospital NHS Foundation TrustLondon, United Kingdom· Recruiting
Common questions
What is Duchenne muscular dystrophy (DMD)?
DMD is a genetic condition that causes muscles to weaken over time. It mostly affects boys.
What does 'exon 51 skipping' mean?
It's a way doctors are trying to correct a specific genetic mistake in DMD, allowing the body to make a more helpful protein for muscle function.
Is BMN 351 already approved as a medicine?
No, BMN 351 is an investigational medicine, which means it's still being tested and is not yet approved for general use.
Will I know if the medicine is helping me?
Because this is an early study mainly focused on safety, it's not designed to tell if the medicine is definitely helping. More studies would be needed for that.
How often will I need to go to the clinic?
The visits will depend on your group in the study. Initially, some groups may have visits every two weeks, then switch to weekly visits for the medicine and monitoring.
How to find out more
Always speak to your GP or specialist before deciding to take part in a study.
Interested in taking part?
Discussion
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