Here Goes Hannah! Girl Heads to NIH For Treatment of Giant Axonal Neuropathy

12-year-old from Clifton Park heading to National Institute of Health for potential life-saving treatment

Hannah Sames, 12, embarks on the trip of a lifetime Tuesday. It’s a trip that could save her life.

Sames is heading to the National Institutes of Health to participate in a clinical trial for the rare disease she has, an experiment with gene therapy that would not be taking place if not for the efforts of her parents.

“This is the culmination of eight years of work,” Matt Sames said.

Hannah was diagnosed with giant axonal neuropathy in 2008, when she was 4. The rare, progressive disease is an inherited condition that results in progressive nerve death. This causes problems with walking and sometimes with eating, breathing and other activities. Patients typically become quadriplegics, dependent on a feeding tube and ventilator before dying in their 20s or 30s.

Doctors gave Matt and Lori Sames no reason to hope when they diagnosed Hannah’s condition. As Matt Sames remembers it, Lori asked a genetic counselor if the diagnosis was a death sentence. The answer: Yes.

The Sameses spent the next eight years determined to change that. They created Hannah’s Hope Fund — http://www.hannahshopefund.org/ — to raise money to support research to find a cure for the disease. As Lori Sames has explained in the past, if they didn’t do it, no one would.

“When you have a rare disease, ultra-rare like GAN, pharmaceutical companies aren’t interested in expensive drug development,” she told the Times Union last year. “The onus is left on the families.”

By the end of 2008, Hannah’s Hope Fund supported its first study, at the University of North Carolina at Chapel Hill, seeking an effective way to get a needed, functioning gene into the cells of a person with GAN.

Many studies and the equivalent of a medical degree later, the Sames saw the fruits of their efforts in the launch at the NIH of the first-ever study on people to determine the safety of gene therapy for patients with GAN.

Hannah, however, could not participate. She has a mutation that would cause her body to reject the gene being inserted, Gigaxonin, as a foreign substance.

So far, five other children have been safe and seen some positive effects from the drug trial. Matt Sames said. They’ve seen improvement in breathing and leg strength, and their expressions are more animated.

So Hannah will be given a drug to keep her immune system from rejecting the gene, so that she can try it, too.

Hannah’s first injection will come on July 21, Matt Sames said, and then she’ll be required to live near NIH for monitoring for 60 days. Lori Sames will stay with her. Matt and the couple’s two other daughters, 17-year-old Madison and 14-year-old Reagan, will commute back and forth.

Hannah is looking forward to the adventure, Matt Sames said. The 12-year-old is mostly confined to a wheelchair now, but can walk a few steps with some assistance from her parents.

“She’s very excited about it,” Matt Sames said. “She’s a little nervous, but she’s looking forward to hopefully doing some things she hasn’t been able to do for a long time.”

Thanks to Times Union for this piece. (Source)