Help for Hannah: MPI Research offers hope

When parents are told their child has a rare genetic disease from which she will not recover there is shock, disbelief, anger and then tears.

For Matt and Lori Sames what came next was the conviction that someone has to be the first to be cured. They started Hannah’s Hope Fund, a public charity dedicated to finding a treatment and cure for Giant Axonal Neuropathy, the rare fatal disorder with which their daughter Hannah has been diagnosed.

The Sames, from Rexford, N.Y.,  were in the Kalamazoo area recently to meet with scientists and other employees at MPI Research who are working with the Sames as they race to find a treatment for their daughter and others like her. The Sames visited during Quality Week at the company to offer their thanks for work researchers are doing.

Before setting out to get a peek at downtown Kalamazoo, 8-year-old Hannah, offered a positive review of the visit to MPI, having been impressed with the long hallways of the research facility. "It was so cool," Hannah says.

Giant Axonal Neuropathy, or GAN, is a rare genetic disorder that slowly takes away one's ability to walk, use one's hands, speak and swallow. Once the disorder was believed to affect cognition, but now it appears it simply takes away the ability to communicate. Every nerve cell in the body is affected by the disorder. Eventually the damage to the nerves becomes so severe it leads to paralysis and seizures. Those with the disorder die in their teens or 20s.

It is so rare that only 25 people have been diagnosed with it around the world, although the Sames believe that GANs may be under-reported through misdiagnosis.

The scientists working on a gene therapy approach for GAN believe it is ready for human clinical trial. In meetings with the FDA in January they were given the necessary approvals to proceed. Trials are to begin in the fall of 2012.

This will be the first time a therapeutic gene has been delivered to the spinal cord. The team of researchers working on the project  have come up with a way to transport copies of healthy genes to targeted cells using a modified virus. The virus infects the cells with a healthy copy of the gene that will, in theory, provide protein that is missing in the cells of those with GAN. The research has been led by Dr. Steven Gray, in the Samulski lab at UNC at Chapel Hill's Gene Therapy Center.

Lori Sames says the work done to date has been unique in that they have asked researchers to collaborate with one another rather than keep findings to themselves and publish it just in time for their work to be considered for further funding. Such practices mean drug development can typically take a minimum of 10 years -- years the Sames do not have.

Their approach also means they do not receive funding through the National Institutes of Health, the typical funder for such research. Instead the Sames have raised the money for research through fundraising efforts of Hannah’s Hope Foundation, with events like the recent Thirsty for the Cure, pub crawl, marathons and dances. MPI employees helped raise $250,000 through a Pepsi Challenge that asked voters to choose a top charity by voting on Facebook.

For the next stage of the research they must raise at least $500,000. If the gene therapy proves safe in Phase 1 trials, the Sames hope a biotech firm will take on the project and see it through Phase 2 and Phase 3 trials.

From what they have learned in the four years since Hannah has been diagnosed, they believe that the therapy they are pursuing has the potential to lead to breakthroughs for other, more complex nuero-degenerative disorders.

The work being done by MPI exemplifies the quality and importance of the research that is being done in Southwest Michigan and in other parts of the state, says MichBio CEO Stephen Rapundalo. The work underscores the critical importance of Michigan’s bioscience industry, which includes local companies such as MPI Research, startups at the Southwest Michigan Innovation Center, WMU’s Bioscience Research & Commercialization Center, and others that have grown from the legacy of the Upjohn Co.

It’s a story worth telling.

"We need to get the message out that our industry is making a difference in people’s lives with this kind of work," Rapundalo says.  

"It’s rare that employees at a place like MPI ever get a chance to see the face of a child whose life depends on their work then have the opportunity to relate that back to what they are doing in the lab," Rapundalo says. "Meeting Hannah and her family will have a lasting impression on those employees. This is why people get into the business."

Kathy Jennings is the managing editor of Southwest Michigan’s Second Wave, She is a freelance writer and editor.