Connecticut Children’s has been tapped as one of the first institutions in the U.S. to offer a new gene replacement therapy to treat spinal muscular atrophy (SMA). The new treatment can be delivered within weeks of birth, and clinical trials have shown that it dramatically changes the course of the disease.
“SMA is a devastating diagnosis for families and is the number one genetic cause of death in infants,” said Gyula Acsadi, MD, division head of Neurology at Connecticut Children’s. “This new therapy, combined with the clinical expertise necessary to treat this complex disease, holds the promise to slow, and possibly halt, the progression of SMA.”
The gene therapy, which is administered in the form of a one-time IV infusion, was approved by the Food and Drug Administration (FDA) earlier this year under a “fast track” review process. Connecticut Children’s is one of only 17 medical centers in the U.S., and the only one in Connecticut, that is initially offering the treatment.
Dr. Acsadi administered the first gene therapy in Connecticut to a 6-month old baby shortly before the FDA approval as part of an extended access program sponsored by the drug company. “The results are showing real promise,” said Dr. Acsadi. “The patient is doing well, thriving and gaining motor strength.”
SMA is a rare hereditary genetic disease that is diagnosed in one out of every 10,000 children born in the U.S. each year. It is a genetic neuromuscular disease characterized by muscle atrophy and weakness. The most frequent form the disease (SMA Type 1) manifests early in life and is the leading genetic cause of death in infants and toddlers before two year of age unless invasive ventilator support is provider. Brain cells are not affected by this disease, and affected patients have normal intelligence.
In infants with SMA type 1, the most common and severe form of the disease, symptoms will typically appear within six months as they begin to gradually experience difficulty breathing, swallowing, speaking, and moving. Left untreated, the infant’s muscles will progressively deteriorate, eventually leading to paralysis and death, which in most cases occurs within two years.
According to the drug company, the new treatment, called Zolgensma, employs a genetically-engineered virus that enters the spinal cord and delivers fully functioning copies of the SMN1 gene directly to the patient’s motor neuron cells. These healthy genes rapidly replicate, enhance the cells’ protein production, and help re-establish muscle control.
Infants who received the experimental treatment during clinical trials have all survived beyond their second birthday, demonstrate sustained improvement in motor skills among other improvements.
Several weeks ago, Connecticut Governor Ned Lamont signed into law a bill that makes screening for SMA in all newborns mandatory, which will enable physicians to diagnose and begin treatment earlier in the disease process and before symptoms appear which will significantly improve the quality of life for these patients.
Read more about the first Connecticut patient to receive this gene therapy, Skye, here: https://www.connecticutchildrens.org/neurology/a-world-of-firsts/
Photo: Dr. Acsadi with Skye at a recent appointment at Connecticut Children’s