Synaptopathy

This early-stage trial tests a new biologic drug called ARGX-119 in 16 adults with a rare genetic muscle weakness condition called DOK7-congenital myasthenic syndrome (CMS). The study aims to see if the drug is safe and how the body processes it. Participants will receive either …

This early-stage trial is testing a nasal spray made from stem cell exosomes in 20 people with congenital myasthenic syndrome, a rare genetic condition that causes muscle weakness. The goal is to see if the treatment is safe and can improve oxygen levels. Because it is a Phase 1 …

This study follows 75 people aged 6 months or older with congenital myasthenic syndromes (CMS), a group of inherited disorders that weaken communication between nerves and muscles. Over up to 7 visits in 5 years, researchers will use physical exams, heart and lung tests, MRIs, an…

This study is for people with a rare genetic muscle condition called congenital myasthenic syndrome (CMS). It does not test any new drug or treatment. Instead, researchers will collect information from up to 100 participants over 4 visits to better understand how the disease affe…