WESTFORD — In many ways, Matthew Davidopoulos is like any 6-year-old boy. He's funny, obstinate, and full of life. He watches the Patriots on television and Marvel superheroes on his iPad. He can rattle off the names of his classmates at Rita Miller Elementary School.
But much of Matthew's life is a struggle. When he was 8 months old, he was diagnosed with spinal muscular atrophy, a rare disease known as SMA that causes loss of muscle control and is the leading genetic cause of death for infants. He sits in a wheelchair, strapped in with a vest to support his spine, sleeps with a ventilator mask, and is put in a vibrating respiratory system twice a day to help him breathe and swallow.
Matthew, who has blue eyes and tousled brown hair, is relieved when a home nurse completes the drill. "I don't like this," he says emphatically. "Now can I go downstairs?"
While he is strong and already has lived longer than many children with Type 1 SMA, the most severe form of the disease, Matthew's parents, Courtney and Paul Davidopoulos, worry about him constantly. They have joined hundreds of parents of children with SMA to press drug makers, including Cambridge's Biogen Inc., and the Food and Drug Administration to get treatments to patients more rapidly.
"We want to know why they can't move faster, why they haven't already applied for [drug] approval," said Courtney Davidopoulos. "More parents are getting this diagnosis every day and they're making life and death decisions for their kids every day."
Matthew's parents are part of a new grass-roots organization called Families for Acceleration of SMA Treatments, or FAST Movement, that is critical of drug companies and the FDA, and even an established patient group that has helped fund early stage research.
It's increasingly common for such groups to push for better and more accessible medicines, especially as advances in biotechnology lead to potential drugs for previously untreatable diseases.
For drug makers who are already balancing the demands of regulators, investors, and consumers upset with high drug prices, the patient groups are another constituency that they must contend with.
There are currently no FDA-approved treatments for SMA, which affects more than 10,000 children in the United States. But more than a dozen experimental drugs are in the pipeline. The furthest along is SMNRx, a compound being developed by Biogen and Isis Pharmaceuticals Inc. that has helped children improve their motor functions in clinical trials.
But so far Matthew hasn't been able to get access to the Biogen-Isis drug, which even if all goes well won't be on the market until 2017 at the earliest. He qualified for one clinical trial, but demand was heavy and he wasn't selected in a lottery. "So many patients wanted a slot, and they didn't have one," his mother said.
In a Nov. 18 letter to FDA drug evaluation director Janet Woodcock, the FAST Movement called on the agency to "urgently move forward with market approval" of SMNRx. "The need is clear and our voice is loud," the letter said. "We need treatment now."
Like other activist groups, the FAST Movement is pushing for expanded access to experimental therapies for rare and terminal diseases. It questions the need to conduct a pair of late-stage clinical trials for SMNRx, a drug that looked safe and effective in earlier trials. It also objects to Biogen and Isis giving a placebo to a third of the 230 patients in the late-stage trials.
"It's very unethical at this point to give a placebo" to seriously ill patients," said Katie Myers, a West Palm Beach, Fla., mother of a 20-month-old boy, Kaden, with SMA. "The length of the trial is longer than the typical life span of a child with SMA. These children are the pride and joy of their families. They enjoy life. And we already have proof that these drugs work."
SMNRx originated in the Carlsbad, Calif., labs of Isis Pharma, but Biogen is a partner in the late-stage trials and has an option to commercialize the drug if it is approved. The companies say the late-stage trials, with some patients given a placebo to compare with those taking the drug, is needed to gather the kind of findings the FDA requires to approve the drug for the broadest set of patients.
"The priority we have is to make this happen as fast as we can," said Biogen vice president Mike Poirier, who heads its SMA program. "I drive home at night and think about it. Honestly, there's no answer I could provide to parents that would make them feel we're moving fast enough."
FDA officials have granted SMNRx fast-track status, letting Biogen and Isis have more frequent talks with regulators. But they wouldn't comment on specific drugs under review. In a statement, the agency said it recognized "the urgency to identify effective treatments for patients with spinal muscular atrophy and other diseases with unmet needs."
Cure SMA, a 30-year-old patient advocacy group, has worked closely with the drug makers. Its president, Kenneth Hobby, said he sympathizes with patients who want to speed up the process but fears skipping the late-stage trial runs the risk of an FDA rejection — and further delays — if clinical data from earlier trials isn't seen as strong enough.
"What you don't want is a good drug that doesn't get approved," Hobby said. "Everybody ultimately wants the same thing: a drug approved for as many people as possible as quickly as possible."
For families of children with the debilitating disease, approval can't come fast enough.
Another FAST Movement organizer, Mary Bodzo of Belleview, Fla., whose 26-year-old daughter Krista has SMA, said the Cure organization "does a lot of good but they're also involved with the pharma companies so they don't want to put pressure on them. We can be more aggressive. These kids have so much hope for a better quality of life."
Matthew Davidopoulos became a television news sensation in September when, through an agreement between coaches and league officials, he scored a touchdown in his wheelchair for his 9-year-old brother Noah's team during a Pop Warner football game in September.
"He was crazy about that," said his mother. "He couldn't understand why he couldn't play for the rest of the season. . . . That was the perfect day for us."