Natural History of SMA: Long Term Longitudinal Study and Development of a Registry

What this Trial Is About

This research aims to understand spinal muscular atrophy (SMA) by collecting and analyzing detailed information from a large group of patients over time. The study is observational and involves both looking back at past data and gathering new data from several academic centers in Italy. It focuses on how the disease progresses in patients who have and have not received treatment, and seeks to identify factors that affect disease progression. The study uses a structured disease registry shared among five academic centers to collect high-quality data on patients with SMA. Researchers gather information on motor function, respiratory health, nutrition, care levels, hospitalizations, and adverse events. Clinical evaluators and data managers are trained to ensure consistent and reliable data collection across all centers. Participants will be followed longitudinally, with data collected retrospectively and prospectively for up to 15 years. Researchers will assess motor function as the primary outcome, along with respiratory function and nutrition as secondary outcomes. The study also tracks patterns of care, hospitalizations, and adverse events to provide a comprehensive view of SMA over time.

Natural History of SMA