Synaptopathy

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 registry study follows adults with myasthenia gravis (MG) over time to understand how symptoms, daily functioning, and quality of life change. Participants complete surveys about their symptoms, treatments, and challenges, and may share medical records. The goal is to gather…

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…