What are the most informative tests that should be included in future spinal muscular atrophy (SMA) studies, when should treatments be given to SMA patients and what happens to the SMN protein level as children grow?
SMA affects approximately 1 in 6000 births, and is the leading genetic killer of infants. SMA is a progressive neurologic disease that affects both infants and children. This study will establish how SMA progresses in patients during the first two years of life in SMA and healthy infants. The results will help aid us in the rational design of future SMA interventional studies in infants and serve as an important data set in the design of future clinical trials in additional diseases in infancy. Both SMA and healthy infants are eligible to enroll in this study help us determine: When treatments in SMA should be given; what happens to SMN protein levels as children grow and what tests will be required for SMA clinical trials of the future. This biomarker study is being conducted at 15 sites across the nation and is sponsored by the National Institutes of Health and Families of SMA. Children will be enrolled in the study until they turn 2 years of age in order to see how they grow and develop. Children and parent (s) will come to a study site for regular study visits. At these visits a variety of procedures will be performed, including: Motor function tests; Non-invasive tests to measure the function of nerves and muscles; a blood draw is performed periodically.