by Lauren Taylor from In The Cloud Copy

Spinal muscular atrophy or SMA is a genetic disease that affects the central and peripheral nervous systems, as well as voluntary muscle movement, or skeletal muscles. With SMA, the nerve cells are breaking down in the brain and spinal cord and the brain then stops sending messages that control muscle movement. This eventually leads to muscle weakness and atrophy. Babies and children with SMA may never walk, crawl, sit up, eat, or be able to control head movement. In the most severe cases, breathing and swallowing can be affected, leading to death.

There are various types of SMA from type 0 to type 4, all with varying degrees of symptoms and onset. Most types of SMA are caused by a dysfunction with the SMN1 gene in which not enough protein is produced for the motor neurons to function properly. SMA is diagnosed by genetic testing and/or by muscle biopsy.

Once the nerve cells are lost, there is unfortunately no way to regain them, so treatment is focused on preventing the loss of nerve cell function. Once patients start to lose motor function, treatment focuses on therapies to maximize what function they do have and supportive interventions such as breathing support, nutritional support, physical and occupational therapy, and more.

SMA Newborn Screening

There has been a great push to have screening for SMA included in standard newborn screens as SMA is the leading cause of death due to a genetic disease in infants and toddlers. Without proper treatment for the disease, a child will likely not live past the age of 2. There are approved treatments for the condition and if started early, the child could go on to live a normal life. The treatments include Spinraza by Biogen, Zolgensma by AveXis, and a third treatment, Evrysdi, by Roche and Genentech, which is only approved for use in the United States at this time.

Early treatment with the above-mentioned therapies can help the body to produce SMN, an essential protein in motor neuron survival. Often by the time a child is diagnosed, irreversible damage has already occurred. If infants were screened at birth, then treatments could begin much sooner and outcomes would likely be more favorable. In addition to these treatments, patients may also enroll in gene therapy trials, which thus far, have shown promising results.

The European Alliance for Newborn Screening in Spinal Muscular Atrophy (SMA NBS Alliance) recently launched a final push to have newborn screens in Europe include a screening for SMA by 2025. Eighteen states in the United States currently screen for SMA as part of their standard newborn screening. The SMA NBS Alliance includes members from 19 patient organizations, as well as members from pharmaceutical companies, the European Alliance of Neuromuscular Disorders Associations, EURORDIS, and TREAT-NMD. All have the same goal: having all infants screened for SMA at birth. The members of this alliance are taking part in various activities to help explain the necessity behind adding this process to the current screening programs.

Bringing together all of these stakeholders will hopefully help them push their vision to have the SMA screening added by 2025.

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