U. Utah researchers, along with other institutions working for Project Cure Spinal Muscular Atrophy, have made progress in developing treatments to help children affected by spinal muscular atrophy. Research is funded by Families of SMA.

SMA is a recessive genetic disease, which will progressively degenerate motor nerves and weaken muscles, said Dr. Kathryn Swoboda, U associate professor for the department of neurology and pediatrics and principal investigator for Project Cure SMA. Since it is a recessive disease, in order for the child to be affected by it, both parents must carry the gene for the disease, she said. It is estimated that one in 40 people carry the gene and one child in 10,000 births will have the disease, she said.

“Most (children with SMA) die in infancy,” Swoboda said—a reason many people have not heard of the disease.

There are three basic types of SMA. The most severe form of the disease, Type 1, affects 60 to 70 percent of children who carry it, Swoboda said. Of the children affected by Type 1, 90 percent of them die in the first two years of life, she said. Children with Type 2 SMA have the ability to sit up and those with Type 3 are able to walk. Those affected by Type 2 and Type 3 can live well into adulthood.

“The difference between the one who dies and the one who is able to walk is the number of backup genes they have,” Swoboda said, adding that the backup genes can be manipulated to help better protect the children and lessen the affects of the disease.

Swoboda and her team of researchers are currently conducting a clinical trial called Stop SMA. In this trial, if there is already a child in a family affected by SMA and there is another affected pregnancy, researchers will have the newborn tested at birth for the disease, Swoboda said. If the child has SMA, then researchers will begin proactive treatments and therapies, she said. Researchers will then watch the child’s progress for the next two years.

The main therapies for SMA are for the children to maintain a healthy diet and receive respiratory therapy, Swoboda said. Many children will sleep with a bipap mask to help maintain their breathing during the night.

These therapies will make a huge difference in the child’s life, Swoboda said. The survival rate increases dramatically and more children are living longer, she said. However, Swoboda added that many children remain weak despite treatments.

There are five new drug therapies that will be coming into clinical trials sometime in the future, Swoboda said. The next clinical trial will be a newborn pilot, which will test all newborn children for the disease. In doing so, the hope is they will be able to identify the problem early and being treatment before the disease can progress.

Swoboda said she believes that SMA can be a model for other genetic diseases, and if physicians detect the disease early, they can begin treatments to help as soon as the patient is affected, she said. Proactive treatments are the future of medicine, she said. Swoboda said she hopes that in 10 years there will be a test for diseases, such as Parkinson’s, that would tell patients if they had the disease so they could begin treatment, she said.

“It is much harder to treat the cascading illness,” Swoboda said. “Early identification would lead to proactive treatments.”