Research Brings hope to victims of Spinal Muscular Atrophy by Marian Rizzo

Stephanie Price recalled with sadness the devastation she felt when doctors said her infant daughter would not live to see her second birthday.

At 5 months of age, Hannah Price was diagnosed with Spinal Muscular Atrophy, or SMA, a debilitating disease that affects the muscles and breathing ability of its victims and the No. 1 genetic killer of children under the age of 2.

"Imagine being told that your daughter has this horrible muscular disease and there's no cure," said Price, whose daughter was diagnosed with Type I, the most severe form of SMA.  "At the time, they said she would live to10 months and no longer than 18 months...'Just take her home and love her for as long as you can.' "

Now 3, Hannah hangs onto life by a fine thread as her parents struggle to keep her alive through pulmonary therapy and by using a special amino acid formula in her diet. 

But, a recent breakthrough in research has given new hope to the Prices, and to other families of SMA victims.

In a media telephone conference transmitted from Libertyville, ILL., medical researchers announced Monday a new development in drug treatment can correct the disease in laboratory mice.

A collaborative effort by Ohio State University, the University of Wuerzburg, Germany, and Northeast Wales Institute, the study concluded that SMA is caused by a loss or mutation of a gene called survival motor neuron, or SMN.  Dr. Arthur Burghes, an associate professor of medical biochemistry, neurology and molecular genetics at OSU, headed the research project.

While the gene appears in two almost identical forms, SMN1 and SMN2, victims of Spinal Muscular Atrophy lack SMN1.  Although they have SMN2, it does not make sufficient SMN protein needed by motor neuron cells that motivate muscles and affect breathing ability.

When researchers gave high amounts of the SMN2 gene to laboratory mice, they noted that the mice developed normally.  Administration of the compound prevented the disease from developing at the egg stage and reversed the symptoms in mice that had difficulty breathing three to five days after birth.

"We found if we have a lot of the SMN2 gene, which is present in an SMA patient, it's capable of producing sufficient SMN so neurons can react normally," Burghes said in a telephone interview.  "We can make SMN2 function so they don't have SMA.  It's very exciting.  We've finally shown that SMN2 can replace SMN1.  We're looking forward to the next stage where we find the drug compound and find a way to help SMA patients."

Burghes said he expects to have a drug compound fit for humans within a year or two.  "But, we need to get to that next step, and it's not an easy one either."

Meanwhile, SMA strikes one in every 6,000 babies, according to a report from Families of SMA, a support and research organization that contributed to the government-funded research.  The organization has committed to raising $2.5 million for drug research and is collaborating with Aurora Biosciences, a pharmaceutical research lab in San Diego.

An often fatal disease that destroys the nerves that control voluntary muscle movements, SMA can strike anyone of any age, race or gender.  Fifty percent of children diagnosed with SMA before age 2 will never live to see their second birthday, the report showed.

The breakthrough in drug therapy has given new hope to these victims and their families, said Audrey Lewis, found and director of Families of SMA in Libertyville.  The parent of a child with SMA, Lewis said this is the best news she's heard in years.

"Dr. Burghes and his colleagues have worked diligently over the last decade, using not only their scientific expertise, but also their hearts and souls to bring us to this point," Lewis said.  "The magnitude of today's announcement leaves me speechless."

Four Marion County families stand to benefit from Monday's medical science report.  To Mary and Stephen Bodzo of Belleview, it's the answer to many prayers.  The Bodzo's daughter, Krista, 10, was diagnosed with Type II SMA and has spent the majority of her life in a wheelchair and dependant on breathing machines when she sleeps.  Mary said she is overwhelmed that her child may have a chance at a normal life.

"This has been our dream and our prayer for nine years," Mary said. "This is a hope that they will find a drug very soon that Krista can have that will rid her of SMA.  Then we can focus on repairing the atrophy and the damage.  Just that this could be a reality in her lifetime is an answer to our prayers."