Prospective, Long Term, Observational Study (Patient Registry) of Paediatric Myotonic Disorders
This study is for very young children, from birth up to 6 years old, who have a group of muscle conditions called myotonic disorders. These conditions cause muscle stiffness and difficulty relaxing muscles. The study aims to gather information over a long time about how children with these conditions progress and how they are treated with a medicine called mexiletine, which helps with muscle stiffness. Doctors will collect standard health information during their routine check-ups. This will help us understand more about myotonic disorders in children and how mexiletine works for them, ultimately helping to improve care for these conditions.
At a glance
What is this study about?
This study is all about understanding how children, from newborns up to 6 years of age, live with certain muscle conditions called myotonic disorders. These are conditions where muscles don't relax properly after they've been used, leading to stiffness. The study focuses specifically on children who are being treated with a medicine called mexiletine, which helps to ease this muscle stiffness. Doctors will simply record information during the children's routine appointments, which is a great way to observe what's happening in the real world rather than in a special research setting.
The main goal is to collect detailed health information over a long period, at least two years for each child. This includes things like how the condition changes over time, how well the mexiletine treatment is working, and any side effects it might have. Researchers aren't asking doctors to do anything different or special; they are just observing and noting down details of the care children are already receiving. This approach helps to build a clearer picture of living with myotonic disorders in young children and how their treatment affects them.
By gathering this information, the study hopes to improve our knowledge of myotonic disorders in very young children and how best to manage them with mexiletine. This kind of study is very important because it helps scientists and doctors learn more about rare conditions and how to give the best possible care to patients in the future. It’s about learning from real-life experiences to help many more children with these conditions.
Key takeaways
- This study observes young children (birth to 6 years) with myotonic disorders.
- It collects information on how mexiletine treatment works in real-life settings.
- Data is gathered during regular doctor's visits, not extra appointments.
- Participation helps improve understanding and future care for these conditions.
- The study lasts for at least two years for each child.
Who may be eligible?
This study is for very young children, from birth up to 6 years old, who have been diagnosed by a doctor with a myotonic disorder confirmed by a genetic test. They must also show symptoms of muscle stiffness, like problems with hand grip or leg muscles.
Children can join if they are already taking mexiletine for their condition or if their doctor thinks mexiletine would be a good treatment for them. It's important that your child doesn't have serious heart problems or liver issues, which will be checked by their doctor. Also, their routine blood and urine tests should be within normal limits.
Your child cannot join the study if they are allergic to mexiletine or other similar medicines, or if they have certain serious heart conditions that would make mexiletine unsafe for them. The doctor will carefully check if mexiletine is safe for your child based on their medical history.
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.
- Is your child under 6 years old (from birth to just under 6)?
- Does your child have a genetically confirmed diagnosis of a myotonic disorder?
- Does your child experience muscle stiffness (myotonia) symptoms?
- Is your child already taking mexiletine, or has their doctor suggested it?
- Has your child been checked by a doctor and found to have no serious heart or liver problems?
What does participation involve?
If your child takes part, doctors will collect their health information during their regular check-ups and treatment visits. This means no extra appointments specifically for the study. They will record details about your child's myotonic disorder, how they are responding to mexiletine, and any general health updates. This will happen over at least two years. You, as the parent or guardian, will need to give your permission for your child to be included and for their information to be used in the study.
Potential risks and benefits
Locations (1)
- Centre Hospitalier Universitaire de Clermont-FerrandVerified postcodeClermont-Ferrand, France· Recruiting
Common questions
What are myotonic disorders?
Myotonic disorders are a group of conditions that cause muscles to become stiff and not relax properly after they have been used.
What is mexiletine?
Mexiletine is a medicine used to help ease the muscle stiffness often experienced by people with myotonic disorders.
Will my child receive extra treatment in this study?
No, this study only observes the care your child already receives; no extra treatments or appointments are involved.
How long will my child be in the study?
Your child's information will be collected for at least two years as part of their routine medical visits.
Who is funding this study?
The study collects information about paediatric patients being treated with mexiletine according to their physician.
How to find out more
Nikki Adetoro
Always speak to your GP or specialist before deciding to take part in a study.
Interested in taking part?
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