Spinal muscular atrophy (SMA) is a rare genetic disorder that affects the spinal motor neuron, leading to muscle weakness and atrophy. Pain is unfortunately a common occurrence for those living with SMA, and advancements in treatment and survivability have created a larger patient population and an increased need to address their pain. Because the mechanisms of pain in SMA are unclear, targeted treatments cannot be developed.
In this pilot study, we utilize metabolomics to study the cerebrospinal fluid (CSF), blood and urine of SMA patients, with the goal to identify molecular pathways potentially involved in pain in SMA.