is a genetic disorder that effects young children, resulting in mental disabilities, blindness, nerve damage and seizures. Those afflicted may live into their teens, while others with severe forms of the disease die at an earlier age. There is no specific treatment for Sanfilippo syndrome, but a Cleveland-area startup owner literally climbed a mountain to help find one.
Tim Miller, CEO of Abeona Therapeutics
, joined a team of climbers representing the Team Sanfilippo Foundation
to scale Mount Rainier in Washington. The 14,411-foot ascension represented the latest in a series of fundraisers
designed to fight the deadly disease through research. Thus far, the effort has raised nearly $22,000.
Abeona, a company developing gene- and plasma-based therapies for rare genetic disorders, recently entered its first trial on replacing a Sanfilippo sufferer's malfunctioning DNA with a correct copy. The therapy produces an enzyme needed to dispose of sugar molecules that are otherwise stored in cells. This storage causes progressive damage in the patient.
"We're the only ones in the world using this particular approach," says Miller. "Our next step is to enroll more patients."
Miller battled freezing temperatures, high altitudes and steep rock faces during the 36-hour climb to Rainier's crest. The early-September jaunt burned 16,000 calories and left him physically and emotionally exhausted. Disappointment Cleaver, a 70- to 80-degree rock incline located at 12,500 feet, was perhaps Miller's most harrowing challenge.
"You're scaling 1,000 feet of rock in the middle of the night with a short rope," he says. "You just have to keep moving."
Miller and his teammates - among them a father of two boys diagnosed with lethal Sanfilippo syndrome type A - reached the summit at sunrise, a sight that washed away all previous trials.
"There was this great sense of joy when we reached the top," says Miller. "We got to see the entire world unmapped before us."
Tackling Mount Rainier was difficult, but nothing compared to what those dealing with Sanfilippo syndrome must endure, adds the medical entrepreneur.
"I had to live through mental, physical and emotional hardships (on Mount Rainier)," Miller says. "But parents whose children have (Sanfilippo syndrome) must live with the disease for years. That's courage."