Spinal Muscular Atrophy (SMA) Plain community carrier screening program yields impactful results
Posted on February 19, 2020
The program identified carriers in the Plain community to deliver innovative treatments presymptomatically to affected newborns
STRASBURG, PA- The Clinic for Special Children (CSC) has completed its Spinal Muscular Atrophy (SMA) Prevention Readiness program. The program, launched in 2018, offered free carrier testing with the goal of identifying Plain (Amish or Mennonite) individuals and couples who are SMA carriers. SMA is the most common genetic cause of infant death worldwide and causes progressive degeneration of motor nerve cells in the spinal cord and brainstem. Historically the only treatment for SMA was care of the symptoms. However, recently approved targeted therapies have been shown to be effective in treating the disease. They are best administered before a patient shows significant symptoms of the disease so genetic diagnosis is key. One of the effective ways to identify families with a risk for the disease is to identify adult carriers.
Read the full press release HERE