According to a story from Connecticut Children’s, the hospital is one of the very first in the country to administer Zolgensma, a recently approved gene therapy for the rare genetic disease spinal muscular atrophy (SMA). This breakthrough treatment is only administered once and can allow the patient to develop without experiencing the effects of the disorder. Connecticut Children’s is currently the only medical facility in the state that is offering the therapy and is one of just 17 medical centers across the country that carries it.
About Spinal Muscular Atropy (SMA)
Spinal muscular atrophy is a type of neuromuscular disorder in which the motor neurons are destroyed, leading to muscle wasting. Without prompt treatment, the disease is lethal in many cases. This disorder is linked to genetic defects of the SMN1 gene. This gene encodes a protein called SMN, and when not present in certain amounts, neurons are unable to function. There are different kinds of spinal muscular atrophy that are categorized by when symptoms first appear. These symptoms may include loss of reflexes, muscle weakness and poor muscle tone, problems with feeding and swallowing, developmental delays, respiratory muscle weakness, tongue twitching, and a bell shaped torso. The most effective treatment currently available for the disease is called Zolgensma. To learn more about spinal muscular atrophy, click here.
Zolgensma: Treatment Breakthrough
Dr. Gyula Acsadi is the head of the Neurology division at the hospital and administered the first treatment in the state to a six month old girl named Skye shortly after Zolgensma was officially FDA approved. At this juncture, that patient appears to be doing well and is gaining strength. The therapy works by using an AAV (adeno-associated virus) to deliver a corrected copy of the SMN1 gene directly to the affected cells, thereby replacing the faulty copy.
With this new capability for treating spinal muscular atrophy, the governor of Connecticut, Ned Lamont, recently signed off on a bill that will make infant screening for the disease mandatory, allowing for more rapid detection and treatment.
To learn more about Skye, the first person to receive the therapy in Connecticut, click here.