Spinal Muscular Atrophy (SMA) is a rare genetic disorder that causes progressive muscle weakness and atrophy due to the loss of motor neurons in the spinal cord. For infants born with this condition, life expectancy is dramatically shortened, and most affected children live no longer than two years.
Today, however, the integration of gene therapy by David Neil Toupin, MD, assistant professor of neurology, and UK HealthCare鈥檚 Neurology Evaluation and Management Optimization (NEMO) Clinic has dramatically changed the course for children affected by SMA.
鈥淪MA used to be the most common genetic cause of death in childhood,鈥 said Dr. Toupin. 鈥淣ow, because of gene therapy and the other treatments that are available, children are living much, much longer 鈥 and if treated early, may live a completely full, healthy life.鈥
In the past, many children with this disease would die from progressive weakness before age 2, as there was no effective treatment. In 2019, Kentucky started screening for SMA at birth, in the advent of clinically available gene therapy.
鈥淲ith gene therapy, when you treat kids early, it halts the disease. The strength that kids have is locked in place,鈥 explained Dr. Toupin. 鈥淣ow there are kids who received gene therapy that are nine or 10 years old, and they haven't lost any more strength. Before this treatment, kids with SMA would never sit on their own, and now they're walking, running, climbing, and even playing sports. It's amazing.鈥
The treatment itself is deceptively simple. The disease stems from a missing gene critical to motor neuron survival. Gene therapy restores that missing gene by delivering a single intravenous infusion of a virus that carries the corrected DNA.
The procedure only needs to be done once. One IV infusion. Never to be repeated.
鈥淭here is some monitoring. Patients need lab work for several months and some follow-up visits,鈥 he added. 鈥淏ut all in all, once it鈥檚 in, it鈥檚 done.鈥
Since gene therapy became available at UK HealthCare, 12 children have received treatment. For those who received treatment before the symptoms started, they are living their childhood to the fullest.
鈥淎ll of our patients who received the therapy shortly after birth are out living normal lives and meeting milestones that have never been seen before,鈥 said Dr. Toupin.
This kind of outcome depends on timely detection and access.
鈥淭here鈥檚 a window of opportunity for it to work,鈥 said Dr. Toupin. 鈥淭he disease is active at birth, and literally every day makes a difference. We move extremely quickly, and I鈥檓 proud to say we鈥檙e one of the fastest in the country because we have a tremendous pharmacy and clinical team.鈥
That infrastructure was made possible through early foresight and advocacy. Long before the treatment was officially available, Dr. Toupin鈥檚 mentor 鈥 William C. Robertson, Jr., MD, professor of neurology and pediatrics 鈥 recognized that newborn screening would soon become standard. He reached out to the drug manufacturer and laid the groundwork to establish UK as an authorized treatment site.
鈥淏efore the treatment was available, Dr. Robertson reached out to the drug company, knowing that the state screening was coming online. We wanted to be ready,鈥 said Dr. Toupin. 鈥淣ovartis agreed to work with us, so processes were put in place. As soon as newborn screening rolled out, we were in a position to give the treatment.鈥
Behind the scenes, teams across the X站福利所 and UK HealthCare worked to ensure the treatment would be accessible, especially given its high cost. Navigating coverage through both public and private insurance was essential to avoid delays.
鈥淭he drug is tremendously expensive, and at first there was some pushback by insurance companies,鈥 said Dr. Toupin. 鈥淒r. Robertson and I wrote a lot of letters and advocated in Frankfort for the treatment to be covered by Medicaid. It鈥檚 a testament to the outstanding efforts of our clinicians and our institution that insurers now understand the benefits of the therapy.鈥
Today, the majority of cases receive insurance approval quickly, giving families vital access to care during that narrow treatment window.
The NEMO Clinic continues to accept new patients, serving not only children with neuromuscular conditions like SMA but also those with a range of neurological and neurodevelopmental disorders. For many families, the clinic has become a place of hope, and for the UK X站福利所, it stands as a powerful example of how research, advocacy, and academic medicine can come together to transform lives across Kentucky.