Natural History Study of Congenital Myasthenic Syndromes Caused by DOK7, MUSK, AGRN, or LRP4 Mutations Observational Study Tracking Symptoms and Quality of Life

What this Trial Is About

This research aims to better understand the natural history of Congenital Myasthenic Syndromes CMS caused by mutations in the DOK7, MUSK, AGRN, or LRP4 genes. It evaluates disease activity by collecting clinical data and quality of life information from participants with these specific genetic mutations. The study is observational and involves participants aged 2 years and older diagnosed with CMS due to these mutations. Participants will attend up to four study visits where clinical assessments will be performed. These assessments include evaluating symptoms and quality of life using tools like the Quantitative Myasthenia Gravis QMG score and other standardized measures. The study collects both retrospective and prospective data on diagnosis, healthcare use, medications, and health status changes related to CMS over a period of up to 12 months. During the study, participants will undergo various evaluations including symptom scoring, questionnaires on daily living activities, fatigue, and health-related quality of life. Researchers will analyze changes from baseline in these measures to understand disease progression and impact. No investigational treatments are given, and the focus is on monitoring and documenting the condition. Participation may last up to 12 months with scheduled visits for data collection and assessments.

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