For a decade, Charley's Fund has pushed the frontiers of finding a cure for Duchenne muscular dystrophy, but a mother's love for her child won't allow Tracy Seckler to celebrate this anniversary.
In the last decade, the nonprofit -- named after Seckler's son who has DMD -- has directed $25 million toward research. It also has backed the creation of a biotechnology company, DART Therapeutics, to develop drugs to deal with DMD.
Her son, Charley, 13, however, is showing advancing signs of DMD and that keeps Seckler spending "25 hours a day" on the nonprofit's missions of finding a cure for the terminal disease.
"We don't celebrate time gone by, we mourn time gone by," Seckler said.
The nonprofit was founded by the Secklers, after Charley was diagnosed with the progressive muscle-wasting disease when he was 3.
The disease, which affects one in every 3,500 newborn boys, stunts growth and deteriorates all muscles, including the heart. It is always fatal, and those with who are diagnosed rarely live past their 20s.
"I have never once heard a woe-is-me or a negative," said Ellen Wilner, a board member for Charley's Fund. "They are just positive -- they go and they do, and there isn't a wall they don't just push through. They are very motivated for obvious reasons, but I don't think everybody would have the same reaction."
In the last decade, Charley has grown to become a sociable, out-going child, who loves sports. Charley has an industrious mind, his mother said, which helps him overcome physical challenges that have appeared recently.
Earlier this week, Charlie walked around Stockbridge, but on one particular long trek, he asked a friend if he could grab hold of his back allowing him to continue to take part in the fun. He struggles to lift a gallon of milk, walk up stairs, and the disease has stunted his development, so he's smaller than children his age.
Charley just wants to enjoy a normal childhood, Seckler said. She declined a request for an interview with Charley.
"He just wants to be a kid and doesn't want attention because of the disease," Seckler said.
Charley's Fund initially directed funding for promising drugs. The nonprofit has gone on to produce its own drugs, encourage the streamlining and hastening of the regulatory process used by the federal Food and Drug Administra tion and improve the diagnostic system for assessing progression of DMD.
Seckler -- who doesn't earn a salary at Charley's Fund -- said her every day is focused on DMD. She fundraises, lobbies legislators and, most recently, helped get a petition, signed by 105,799 people, before the White House to urge the federal Food and Drug Administration to hasten approval of the drug, eteplirsen, produced by the drug company Sarepta.
The drug has been administered to 12 boys with the disease for more than two years. These patients are now stabilized because they are producing a protein called dystrophin.
"Once [the protein] appeared in their muscles, they stabilized and have not declined since then," Seckler said.
Searching for a cure
In 2010, Charley's Fund partnered with the Nash Avery Foun dation to form DART Therapeu tics. Seckler recalls being impressed with findings related to a new drug, HT-100, but the product had been shelved after the pharmaceutical company ran out of funding.
DART Therapeutics was formed and purchased HT-100, a product that aims to halt or slow down the formation of fibrosis, and fatty tissue, which contributes to the death of those with DMD.
The company's other product in development, DT-200, aims to build muscle without the negative side effects caused by steroids.
"There is no cure in the near horizon [for DMD], so we believe and it is widely accepted that it is going to take a cocktail of drugs to manage the disease and turn it into a chronic, manageable disease," said Marc Blaustein, chief executive officer for DART Therapeutics.
Blaustein joined DART Thera peutics full-time in 2011 after 17 years in the biotechnology industry. He had been running his own consulting business, and previously served as senior vice president at the Burlington-based Dyax Corp.
The company is filing paperwork on the request of the FDA, he said, which has put clinical trials on HT-100 on hold. DT-200 could soon begin human clinical studies.
"[DMD] is so pervasive and the damage that results in the body and muscle is so widespread ... our strategy is to focus on the fundamental pathologies and what causes the most damage and focus on reserving, stopping, or mitigating those effects," Blaustein said. "We feel that will have a profound effect on the disease."
Blaustein said employees work from home -- which is common for start-up biotechnology companies -- and the company contracts with specialists for expertise and resources.
Foundations aren't normally affiliated with biotechnology companies, Blaustein said. He added he joined the company because he was impressed with its focus on finding cures based on the fundamentals of DMD.
Despite past efforts, Charley's Fund is focused on the future, where DMD is no longer a terminal disease.
"I feel 100-percent confident that we will be instrumental in finding new treatment for the disease," Seckler said.
The nonprofit works consumes her days, and keeps her away from Charlie at times, but she said, "I wouldn't be doing this if I didn't think we would succeed."
To reach John Sakata: email@example.com, or (413) 496-6240. On Twitter: @jsakata