Reprinted from Desert News

Project cure: Study targets child disease

Saturday, January 25, 2003

By Elaine Jarvik
Deseret News staff writer

      It's a disease currently without a cure and also without a celebrity. With no Christopher Reeve or Michael J. Fox to get the word out, spinal muscular atrophy is less known than other genetic diseases, even though it affects one in every 6,000 children and is the leading genetic killer of children under 2.

Kathy Swoboda, left, the principal investigator of Project Cure SMA, tests 4-year-old Claire Gibbs, who has spinal muscular atrophy, at the University of Utah.

Johanna Kirk, Deseret News

      But SMA has one thing on its side: It turns out that curing the disease doesn't require traditional gene therapy, and in fact it may be reversed by drug therapy alone. Researchers rushing to develop that drug got a boost Friday from "Project Cure SMA" and its first international meeting, held at the University of Utah Medical Center.
      Researchers from five countries joined U. doctors to study 20 SMA children, to come up with ways to measure whether those future drugs are effective.
      Nikolas and Gidget Winward of Lehi spent the day undergoing motor neuron, bone density and strength testing. Five-year-old Nikolas wants to be the first child to try a drug once it's developed. "I just want to be a dad and be able to walk with my kids and play baseball," he told his mom. "You know, it's not really fair," he told her recently, as he ticked off the other members of his family who are mobile. "Even the dogs can walk."
      Nikolas and his 3-year-old sister Gidget both have Type II SMA, a milder form of the disease that, unlike Type I, is not fatal but leaves children with varying degrees of weakness and at increased risk for complications from respiratory infections.
      Like most Americans, Kim Winward had never heard of SMA before her son was diagnosed at 18 months. Like most children with SMA, says Winward, Nikolas is bright and very social. He said his first word at six months, his first full sentence at 18 months, and he crawled early. But by 15 months the crawling became more and more labored, and he had stopped pulling himself up to standing.

Physical therapist Natalie Mellen works with Lauren Gibbs, 6, who has spinal muscular atrophy, at the U. The disease affects one in every 6,000 children.

Johanna Kirk, Deseret News

      Because SMA is a recessive disease, in most cases neither a parent nor even a close relative has the disease, so the diagnosis isn't expected.
      Winward, who is now president of the Utah chapter of Families of SMA, is buoyed by FSMA-funded drug trials in which mice genetically manipulated to have SMA have been restored to full movement. Currently, however, those experimental drugs are either too toxic or are so quickly degraded by the liver that continuous IVs would be necessary, says Dr. Thomas Crawford, a researcher from Johns Hopkins who is attending the Project Cure SMA meeting.
      But, he says, "there's every reason to be optimistic" about the future of SMA research.
      SMA is affected by two genes, so even when one isn't working there is a near identical copy that is. The trick, then, is to increase the amount of "gene expression" in that remaining gene, and this can be done through medication.
      Now that the prospect of drug therapy "is around the corner" and clinical trials are imminent, says Crawford, researchers have to figure out how to measure whether experimental drugs are effective. "It turns out it's not that easy," he says.
      One way is to measure the health of the child's nerves by counting motor neurons research that has been pioneered by Dr. Kathryn Swoboda at the U. Because SMA affects the motor neurons, says Crawford, "it's like genetic polio."



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