Two Medical Breakthroughs for Spinal Muscular Atrophy Treatment

It is indeed a great medical phenomenon when new treatments are discovered for diseases that are considered fatal. However, one question remains: Is it possible that a treatment can bring about new symptoms?

Dr. Barry Byrne, who is the director of the Powell Gene Therapy Center at the University of Florida College of Medicine, discussed the success that enzyme replacement therapy or ERT brought for Pompe disease, which can clog cells of the heart, muscles, liver, and lungs that have glycogen. This disease can cause death to children who are just 9 months. ERT became available as a treatment in 2006, and this treatment extends into the lives of the patients. However, 18 months after getting ERT, some of them needed assistance in ventilation. Initially, they only needed ventilation for a few hours, but it got worse and ended up needing assistance around the clock for these patients. Why did this unfortunate incident occur?

Experts were confused, but they had an idea. Dr. Byrne and his team thought that the patients who survived after the treatment showed improvement in their heart and lung functions. There was also an effect on the neurological function of patients since they would not last for 18 months. His team wanted to understand this phenomenon.

Enzyme alpha-glucosidase is deficient in Pompe disease, which causes damage to the motor neurons. These neurons are too far to be reached by ERT, and this treatment cannot pass through the blood-brain barrier so the spinal cord cannot be penetrated as well. The consequence is the phrenic nerves that control the diaphragm are not strong enough to move the lungs as a child learns to ventilate.