A Natural History Study in Participants With Congenital Myasthenic Syndromes (CMS) Due to Mutations in DOK7, MUSK, AGRN, or LRP4

To be considered for this study, individuals typically need to be at least 2 years old. They must have a confirmed diagnosis of Congenital Myasthenic Syndrome (CMS) specifically linked to changes in certain genes: DOK7, MUSK, AGRN, or LRP4. If you're 6 years or older, your muscle weakness symptoms, measured by a specific score, should be at a certain level.

It's important that participants and their guardians can understand what the study involves and are happy to follow the study's instructions. If you're currently taking certain medications called oral beta agonists (like salbutamol), you should have been on them consistently for at least three months.

However, you wouldn't be able to join if your CMS is caused by genetic changes other than DOK7, MUSK, AGRN, or LRP4. Also, if you have other medical conditions that might make it hard for the doctors to accurately assess your CMS symptoms, or if you are already taking part in another study that tests a new medicine, you wouldn't be eligible.

If you decide to take part, you would attend up to four study visits. These visits will involve various assessments to check your symptoms and how your Congenital Myasthenic Syndrome (CMS) affects your daily life and overall well-being. The study doesn't involve any new medication or treatment, and there's no follow-up period after your last visit. Each visit will focus on collecting information about your condition to help researchers understand its natural progression. The total duration of your participation would depend on how many visits you complete.