Originally published on September 17, 2013.

Dr. Swoboda was awarded funding by Cure SMA for one of four Clinical Care focused projects. The project is being conducted at the University of Utah. This award for $50,000 will fund a study to determine whether children/preadolescents with SMA type II demonstrate impaired glucose tolerance after glucose loading and to determine whether these same children demonstrate intolerance of fasting. If the study confirms glucose metabolism abnormalities in children with SMA further study will be needed to develop appropriate management protocols and care guidelines. 

Project Description

Pilot Study of Glucose Load Tolerance and Fasting in SMA type II

Objective: The aims of this pilot study are to: determine whether children/preadolescents with SMA type II demonstrate glucose tolerance after glucose loading and to determine whether these same children demonstrate intolerance of fasting in a well state.
Research Strategy: Participants with SMA type II will be given a glucose drink. Blood sugar, insulin, and other markers will be measured up to 3 hours after to measure the body’s response to the drink. In a separate visit, the same participants will fast under medical supervision and similar markers will be monitored.
Significance of the Project: This pilot is needed to further understand glucose, insulin, and other responses to fasting and glucose loads in people with SMA. This information can be used to guide fasting limitation protocols and intake guidelines for patients with SMA and may also serve as preliminary information for glucose loading and tolerance in SMA.

Meet Dr. Swoboda:

Who are you?
I am a geneticist and neurologist at the University of Utah in Salt Lake City. SMA has been a major focus of my research and clinical efforts over the past 13 years.

How did you first become involved in SMA research?
The gene that causes SMA was discovered just as I began my fellowship training in genetics. I was inspired by the challenges that scientists overcame in determining the causative gene SMN1 and its nearly identical twin, SMN2, and by those who envisioned, even then, the potential therapeutic opportunity this might present. After I moved to Utah, I met the mother of a little girl with SMA type I, who regularly challenged my misconceptions about the disease and encouraged me to come to my first Cure SMA meeting. There, I was further inspired by the collaboration of families, scientists and clinicians, all clearly working towards a united goal, but each with their own unique contributions to make towards better understanding or treating the disease.

What is your current role in SMA research?
I continue to be actively involved in research and clinical trial efforts to try to better understand disease progression in SMA, and ultimately, to reverse or even prevent onset of symptoms. I have been actively involved in collaborative efforts with Cure SMA and the broader community to help facilitate newborn screening for SMA, as I firmly believe that the cure for this disease lies in identifying and treating infants at risk at the earliest possible opportunity.

Cure SMA has been funding critical research to develop a treatment and cure for the disease since 1984, along with providing important resources and support for families affected by SMA. In 2013, we launched a new program to fund care research to drive improvements in patient care in spinal muscular atrophy. This program is focused on improving care and the quality of life for SMA patients.

The results of funded projects will build an evidence base and demonstrate measurable, positive effects on the clinical management and lives of patients with SMA. These results will then be used to provide:

•    Educational programs for professional medical providers, such as the Cure SMA CME day
•    New family-focused care publications, such as the Cure SMA Care Series Booklets
•    Peer reviewed journal publications to influence insurance coverage.