Long-Term Study Collecting Patient and Family Reports on Congenital Muscle Diseases Using the Congenital Muscle Disease International Registry

What this Trial Is About

Researchers are conducting a 10-year observational study called the Congenital Muscle Disease Patient and Proxy Reported Outcome Study CMDPROS. This study aims to collect and analyze care data and adverse events for various congenital muscle diseases using the Congenital Muscle Disease International Registry CMDIR. The study focuses on individuals with diagnoses such as congenital muscular dystrophy, congenital myopathy, congenital myasthenic syndrome, and related conditions, including those without genetic confirmation. Understanding these conditions better will help improve care standards and support future clinical trials. Participants register in the CMDIR by providing demographic information and completing an intake survey. They are also asked to share medical records related to their diagnosis and treatment, such as genetic testing results, muscle biopsy reports, pulmonary function tests, sleep studies, clinic notes, and hospital discharge summaries. The study collects data on multiple disease subtypes and tracks various health events and care parameters over time, aiming to build a comprehensive database. Throughout the study, participants provide ongoing information about their health status and adverse events, which researchers verify using medical records. Key outcomes include survival rates, hospitalization frequency, respiratory complications, and other health complaints. The study will also analyze measures like ejection fraction, lung function, sleep study results, growth, fractures, and bone density. Data collected will contribute to evidence-based care guidelines and help identify meaningful outcomes for future clinical trials. Participation requires no travel as data collection is done remotely through the registry.

Congenital Muscle Disease Study of Patient and Family Reported Medical Information