700 Children's Blog

SMA Clinical Trial Provides Hope for Families

Jun 17, 2015

Tragically, most children with Type I Spinal Muscular Atrophy (SMA1) don’t live past their 2nd birthday. I believe the answer for these patients and their families is gene therapy.

My team and I at Nationwide Children’s are conducting the world’s first gene therapy clinical trial for SMA1, and we are optimistic about preliminary results. These results can be seen in patients like Tenley Johnson. Tenley received an intermediate dose and has been able to meet significant milestones in her development since she was enrolled in the trial last year. You can meet Tenley and see how far she has come in the video below.

SMA1 patients are missing the SMN gene. The goal of the gene therapy trial is to replace the missing SMN gene with a healthy gene that’s injected into the bloodstream. This is a dose escalation study to evaluate the safety and effectiveness for SMA1. That missing gene is put into a virus, which serves as the vehicle for delivering the gene into the child’s bloodstream. The virus is an adeno-associated virus, which has proven to be safe in our research leading up to this human clinical trial in the lab.  One of the most amazing things is that once the gene gets into the nucleus of the child’s motor neurons and other cells, it will act like his or her own DNA. Then, it will produce the gene for several years. The beauty of gene therapy is that it is a one-time delivery.

When I first became a physician, I would see babies affected by muscle and nerve disease die. My passion began there and I’ve made every effort I could throughout my career to work toward a successful treatment for both Spinal Muscular Atrophy and Muscular Dystrophy. I’m proud of the progress we’ve made, but we still have much work ahead: my motivation and ultimate goal is to cure children with SMA and other muscle diseases.

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Jerry R. Mendell, MD
Center for Gene Therapy, Director

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700 Children’s features the most current pediatric health care information and research from our pediatric experts – physicians and specialists who have seen it all. Many of them are parents and bring a special understanding to what our patients and families experience. If you have a child – or care for a child – 700 Children’s was created especially for you.