A Single Patient Study of Sapropterin for Multisystem Smooth Muscle Dysfunction Syndrome
This study focuses on a very rare condition called Multisystem Smooth Muscle Dysfunction Syndrome (MSMDS), which currently has no specific approved treatment. We are looking into a medicine called sapropterin, also known as Kuvan, which is already used for other health problems. This particular study is the first of its kind in Canada for a child with MSMDS. The goal is to gather important information about how sapropterin works in MSMDS, especially since the condition is caused by a tiny change in a gene called ACTA2. This gene change affects how important 'molecular motors' in muscles work. If we can show that sapropterin is helpful, it could lead to it being approved as a treatment for MSMDS in the future.
At a glance
What is this study about?
Multisystem Smooth Muscle Dysfunction Syndrome (MSMDS) is a very rare condition that affects many parts of the body. Unfortunately, there isn't an approved treatment for it yet. This study is an important step because it's the first time sapropterin, a medicine already in use for other conditions, is being looked at specifically for a child with MSMDS in Canada.
Sapropterin, also known as Kuvan, is being 'repurposed' for this study. This means we're exploring if a medicine that's already approved and safe for one condition can also help with a different one. In the case of MSMDS, the condition is caused by a small genetic change in something called the ACTA2 gene. This change affects how the tiny 'motors' in our smooth muscle cells work, which can cause various problems in the body.
The main goal of this study is to collect valuable information about how sapropterin affects the child with MSMDS. By doing this, we hope to build a case that could eventually lead to sapropterin being approved as a regular treatment for MSMDS. This would be a significant step forward for people living with this condition.
Key takeaways
- This study is exploring a potential new treatment for a rare condition called MSMDS.
- The medicine being tested, sapropterin (Kuvan), is already used for other purposes.
- The study aims to gather information to potentially get Kuvan approved for MSMDS.
- Participation involves ongoing medication and regular health checks.
- This is an early-stage study for a specific genetic type of MSMDS.
- You can withdraw from the study at any time.
Who may be eligible?
To be considered for this study, a child must have received a clear diagnosis of Multisystem Smooth Muscle Dysfunction Syndrome (MSMDS), specifically caused by a particular change in their ACTA2 gene (ACTA2 c.536G>A, p.Arg179His). They also need to be between 1 month and 18 years old.
However, there are some reasons why a child might not be able to join. For example, if they have previously taken Kuvan or similar medicines for a long time, or if they are allergic to Kuvan or any of its ingredients. Children who are currently taking medicines that affect nitric oxide (a chemical in the body) or other experimental drugs would also not be able to take part.
The study also cannot include children who have other serious health problems, such as a history of stroke, kidney or liver failure, or any condition that might make it unsafe for them to participate. The study team needs to be sure that all participants can safely follow the study's plan.
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.
- Does my child have a confirmed diagnosis of MSMDS with the specific ACTA2 c.536G>A, p.Arg179His gene change?
- Is my child between 1 month and 18 years old?
- Has my child never or only briefly taken Kuvan or similar medicines before?
- Is my child not allergic to Kuvan or any of its ingredients?
- Is my child not currently taking other experimental drugs or medicines that affect nitric oxide?
- Does my child not have other serious health problems like stroke, kidney or liver failure that would make participation unsafe?
What does participation involve?
If a child joins this study, they will receive the medicine sapropterin (Kuvan). The study team will need to carry out regular assessments to see how the medicine is working and to check for any side effects. These assessments will involve various tests and check-ups at the hospital. The length of time a child will be in the study will depend on how they respond to the treatment and the study plan, but it will involve ongoing medication and follow-up appointments.
Potential risks and benefits
Locations (1)
- CHU Sainte-JustineVerified postcodeMontreal, Canada
Common questions
What is Multisystem Smooth Muscle Dysfunction Syndrome (MSMDS)?
It's a very rare condition that affects the smooth muscles in many parts of the body, and currently, there isn't an approved treatment for it.
What is sapropterin (Kuvan)?
Sapropterin (Kuvan) is a medicine that's already approved for treating other conditions, and this study aims to see if it can also help with MSMDS.
Why is this study only for one patient?
This is a very early study to gather initial information for a rare condition, hoping to pave the way for wider use if it proves helpful.
Will my child definitely get the medicine if we join?
Yes, if your child meets all the study requirements and is enrolled, they will receive sapropterin as part of this study.
What is the ACTA2 gene?
The ACTA2 gene helps make a protein that's important for how smooth muscles work. In MSMDS, a change in this gene causes problems.
How to find out more
Always speak to your GP or specialist before deciding to take part in a study.
Interested in taking part?
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