Home The Washington Diplomat October 2008 Doctors Tantalizingly Close to Cure For Little-Known Genetic Baby Killer

Doctors Tantalizingly Close to Cure For Little-Known Genetic Baby Killer


Imagine giving birth to a beautiful, perfect baby boy who seems healthy in every way. Now imagine that you learn that he is anything but healthy — in fact, he has spinal muscular atrophy (SMA) type 1, the most severe form of a genetically inherited motor neuron disease that gradually destroys the ability to walk, sit, stand and eventually, to move.

That’s what happened to Jon and Dorothy Shuler. On March 7, 2008, their son Owen was born — a blue-eyed, dark-haired cutie with a captivating smile. The happy family’s joy didn’t last long, though. Little Owen had difficulty breathing, feeding and swallowing. Two months later, he was diagnosed with SMA. Owen spent much of his short life in intensive care at New York-Presbyterian Hospital; he passed away on Aug. 16, not yet six months old.

Spinal muscular atrophy is the number-one genetic killer of children under the age of 2. It strikes one in 6,000 newborns in the United States every year, making it one of the more common “rare” disorders, at least as common as cystic fibrosis. And one in 40 people (about 7.5 million in the U.S.) is a carrier of the mutated gene, but most people, like the Shulers, never hear of SMA until it strikes someone they love.

Unlike many neurological disorders though — such as Alzheimer’s and Parkinson’s diseases, multiple sclerosis and amyotrophic lateral sclerosis (ALS) — a real, effective treatment for SMA may not be that far away (dare we even think of a cure?).

The genetic roots of the disease have been traced: SMA results from a defective or missing gene dubbed SMN1 (survival motor neuron 1), which makes a protein essential to the development of motor neurons. There is also a backup gene, SMN2, which makes the same critical protein, although usually not nearly as much (about 10 percent).

Researchers believe that if they can find an effective means of revving up the activity of the SMN2 gene and replacing the protein that should have been produced by the damaged or missing gene, they can treat or even possibly cure SMA. A number of drug targets are now being studied as possible “SMN2 boosters.” For example, a class of compounds called histone deacetylase (HDAC) inhibitors, which turn off proteins that shut down gene expression, have shown promise in treating SMA in mice.

The outlook for SMA is so promising that the National Institutes of Health (NIH) has selected SMA as a model for a new approach to funding translational research, i.e. moving new findings from scientists in the lab to patients at their bedside more quickly. The SMA Project (www.smaproject.org) now has about million in annual funding, with more dollars from family advocacy organizations like Fight SMA and the SMA Foundation going to researchers across the country. In fact, prior to the NIH’s investment, many of the major breakthroughs related to SMA — including the Ohio State University research that first identified the genetic locus of the disorder — were largely made possible by funding from family advocacy groups.

And that’s where new legislation, the Spinal Muscular Atrophy Treatment Acceleration Act, comes in. Introduced in August 2007, the bill authorizes federal funding to support the efforts of these national nonprofits that have already poured massive private funding into SMA research, clinical trials and drug development. The bill (H.R. 3334/S. 2042), sponsored by Reps. Patrick Kennedy (D-R.I.) and Eric Cantor (R-Va.) and Sens. Debbie Stabenow (D-Mich.) and Johnny Isakson (R-Ga.), will help accelerate the push for national clinical trials to investigate new treatments for SMA.

It’s difficult to overstate the urgency of this quest for a treatment, and the importance of sufficient funding. As promising as current treatment possibilities are, they are still in the early stages — in animal models, and sometimes still in the lab. They won’t move forward without a lot more funding for further study. And every week, month and year that passes without an effective treatment means that more kids like Owen will lose their fight with SMA, and those with less severe forms of the disease will be robbed of their abilities to run, walk and play.

So even if you don’t have a dime to donate to private groups like Families of SMA or the Spinal Muscular Atrophy Foundation, you probably have a few minutes to make a phone call, write or e-mail your representatives in Congress to urge their support of the SMA Treatment Acceleration Act. You can even find a link to letter templates and lists of supporters online at the SMA Foundation Web site (www.smafoundation.org).

Do it for Owen, and do it for the next Owen — the one who will be born next month, or next year with SMA, but who may have the fighting chance that Owen Shuler never got.

About the Author

Gina Shaw is the medical writer for The Washington Diplomat.