A Registered Cohort Study on Spinal Muscular Atrophy Types I, II, and III in China Including Carriers, Relatives, and Healthy Controls

What this Trial Is About

Spinal muscular atrophy SMA is a genetic condition that leads to weakening and wasting of muscles due to loss of nerve cells in the spinal cord. This registered cohort study focuses on individuals in China with SMA types I, II, and III, as well as asymptomatic carriers, relatives of patients, and healthy controls. The study aims to better understand the clinical progression of SMA, including survival, motor function, respiratory and nutritional support, growth, development, and how genetic factors relate to symptoms. Participants include people with SMA types I, II, and III, asymptomatic carriers, relatives of those with SMA, and unrelated healthy individuals. There are no experimental treatments instead, this observational study follows participants over time to monitor health changes and disease progression. The study began in July 2019 and plans to observe participants for up to 20 years. During the study, researchers collect information on survival time, genetic and symptom correlations, motor abilities, respiratory and feeding support, growth, and development. Regular visits and assessments are conducted to track these factors. The study provides long-term monitoring to gain insights into SMA outcomes and support needs, helping improve understanding for patients and families.

A Registered Cohort Study on SMA