Utah study is offering hope for ill children

At 3, Anna Rose Scurria stands tentatively, her eyes big and smile a little apprehensive. Her mom, Krista Scurria, stands close, not quite touching her, but you can see an invisible thread as she forms herself around her daughter so she can catch her quickly should the child falter.

Anna Rose and her brother Joshua, almost 6, both have spinal muscular atrophy, the leading genetic killer of children younger than 2. Only within the past year has she been able to stand and take nervous little steps with a walker. Her parents give credit for that and the fact that Joshua can now straighten himself in his wheelchair to an experimental treatment.

Parents like Krista and John Scurria of Louisiana, as well as Loree and Ward Weisman of Colorado, have been bringing their children to Utah regularly recently for a monitored clinical study. Lyza Weisman is also, at 3, beginning to walk again. Like the Scurrias, the Weismans use the word "miracle" to describe what they've experienced in the early phase clinical trials testing new use of two proven medications — sodium phenylbutyrate and valproic acid combined with carnitine.

The children's neurologist, Dr. Kathryn Swoboda, also a geneticist and researcher at Primary Children's Medical Center and lead investigator of the studies, is more cautious but nonetheless pleased with early results.

"These drugs are not a cure," she said. "They will never be a cure, but if we could buy some considerable time for these kids to get old enough so that even more potent therapies are available, we will have done a huge service to these SMA kids."

Swoboda's just winding up the small clinical trials to test the safety of using the drugs in children with SMA. They have, she says, been well-tolerated. The next step is a bigger, multicenter study to test effectiveness — a step the FDA approved just this week for the valproic acid-carnitine regimen.

Project Cure SMA

SMA occurs in one in 6,000 births, always to children whose parents both lack one copy of SMN1, one of a pair of motor neuron survivor genes. One in 40 people have the deletion; when both parents lack the gene, there's a 25 percent chance a child will have SMA.

It is the number of copies of the second gene, SMN2, and the resulting protein it produces that helps motor neurons survive and determines how severe the SMA will be. More copies mean better physical outcomes. SMA type 1 children, those with the fewest copies, don't sit up or walk and most die of their fragility and complications before age 2. Type 2 children like Anna Rose, Joshua and Lyza sit up but are generally too weak to walk. Type 3 children have a range, from showing little effect to over time weakening until they can no longer walk.