Spring brings the promise of good cycling weather and Hannah Sames is eager to get outside on her bike.
With the warmer days also comes hope that a clinical trial will soon begin that will help stop the progression of giant axonal neuropathy (GAN), a rare genetic disorder the 10-year-old girl was diagnosed with in March 2008.
GAN is slowly taking away the use of Hannah’s limbs. It’s a disease that also can affect sight, hearing and the ability to speak and swallow. There’s no cure yet, but her parents are working very hard to change that.
After Hannah’s diagnosis, they started the Hannah’s Hope Fund, a charity dedicated to funding research to find a treatment for the disease. They assembled an international team of scientists to research a gene delivery approach that could help arrest the disease’s progression and have raised enough money to fund the first phase of a human clinical trial for children, which will involve gene replacement therapy. It was scheduled to start almost a year ago, but the Sameses are still waiting.
“We’re very frustrated right now,” said Matt Sames, Hannah’s dad. “Our team has developed something we think is going to be effective and it’s basically sitting on a shelf.”
The process is moving slowly because regulators want to make sure the clinical trial will be as safe as possible for the 44 children who will participate in it, he said. If all goes well, the first participant will start receiving gene replacement therapy in June or July. Hannah probably will have to wait between six and eight months longer, though. Extra steps have to be taken to ensure her body won’t reject the treatment.
“Both copies of her gene are defective, so we’re delivering this full-length protein and we have to make certain that her immune system doesn’t see it as foreign,” explained Lori Sames, Hannah’s mom.
At best, the gene therapy will arrest the progression of the damage the disease has inflicted on Hannah’s nervous system. It cannot regenerate nerves that have already died.
Her family is working hard to keep her ambulatory until she can receive gene therapy. A few weeks ago, she had tendon extension surgery to improve her range of motion.
“She really struggles,” Matt Sames said. “With braces and a walker, she can go about 50 feet and then she has to stop. It’s really hard for her.”
Despite that, her parents said Hannah’s spirits are good and she’s finding plenty of ways to enjoy herself. She takes gymnastics, participates in the Double H Ranch’s adaptive skiing program in Lake Luzerne during winter and, now that it’s getting warmer, she’s ready to get outside to ride her adaptive bike.
On April 25, the casts applied after her tendon surgery will be removed and, if all goes well, she’ll make an appearance at a golf fundraiser at The Edison Club in Rexford to benefit the fund.
Over 120 participants have signed up for the event so far but there’s room for at least 10 more foursomes, Matt Sames said.
The event includes a grilled lunch, a round of golf with a cart, a buffet dinner, an awards ceremony and a goodie bag. The cost is $200 per golfer.
Registration can be made online at www.hannahshopefund.org or by sending a check made out to Hannah’s Hope Fund to 19 Blue Jay Way, Rexford, NY 12148.