Duchenne Lessons: Advocates For Rare Spinal Disease Have Eyes on FDA
[Updated, 1:09 pm ET, see below] Heather and Jessica Tomko will tell you that they’re nothing alike. They’ve got different interests, different tastes in movies, television, and music. If Jessica hates a gift, Heather probably loves it. Heather just scored tickets to see the Broadway show Hamilton and can’t wait. Jessica sighs.
“You can’t get a bigger fad than Hamilton,” Jessica says. “We go to very few concerts together. Heather refuses to go to anything I enjoy going to.”
But the sisters also have things in common, including the rare disease spinal muscular atrophy. They have spent their lives—Jessica is 26, Heather is 27—in wheelchairs. Neither has ever walked. They need help getting out of bed and getting dressed in the morning. Heather had a feeding tube implanted a few years back. They can no longer lift their arms over their head the way they could five or 10 years ago.
“It’s just little things like that where it’s a gradual loss of strength,” Heather says.
There is no approved treatment for SMA. Left untreated, Heather and Jessica, who have a slower-developing form of the disease, might expect to continue to get weaker as time goes on.
Their story has undeniable emotional appeal. But that appeal also underscores an important issue in healthcare these days: The growing power and sophistication of patient advocacy groups for rare diseases, the complex roles they play in the development and regulation of new drugs, and the big business opportunities those drugs provide to pharmaceutical companies.
According to a 2015 report from EvaluatePharma, the market for drugs for rare, or “orphan” diseases, as they’re known, has been growing by 12 percent every year and is expected to reach $178 billion worldwide by 2020. The small populations of patients with those diseases, combined with a lack of alternative treatments, means the drugs typically command very high prices—on average, an estimated $111,820 per patient, per year between 2010 and 2014, according to the report. Twenty-one orphan drugs were approved in 2015, a record for the second straight year.
The first-ever treatment for SMA could soon gain approval, too. In the next few months, Biogen (NASDAQ: BIIB) and Ionis Pharmaceuticals (NASDAQ: IONS) are expected to ask the FDA for approval of nusinersen, which is meant to help improve the motor function in SMA patients.
Nusinersen would become the first in an advancing pipeline of SMA drugs—at least six in clinical trials now, according to the nonprofit group Cure SMA—to make it that far.
Once the application is filed, the FDA typically makes an approval decision in up to 10 months. That review period gives patient advocates a chance to impact a typically bureaucratic process. For Duchenne muscular dystrophy, also a rare disease without treatments, public hearings to discuss drugs under review have featured throngs of patients and patient advocates pleading with regulators to approve experimental drugs despite flawed data. Two drugs have been rejected, nonetheless. A third, eteplirsen, from Cambridge, MA-based Sarepta Therapeutics (NASDAQ: SRPT) was under review with what seemed like a bare minimum of data. FDA officials made unusually pointed comments about the effect of advocates’ appeals, and the agency has since delayed a final decision and asked for more data.
Patient groups played a critical role in the advancements of therapies for AIDS, multiple myeloma, and cystic fibrosis, now approved and used by people every day. Cure SMA backed early research that helped scientists understand the underlying cause of SMA. The ALS Foundation announced recently that money raised from the Ice Bucket Challenge—in which people shared videos of themselves dumping buckets of ice water on their heads to promote ALS awareness—helped scientists uncover a gene implicated in the disease.
Some rare diseases have become profitable targets for drug makers. Alexion Pharmaceuticals (NASDAQ: ALXN) has turned eculizumab (Soliris), a treatment for the blood disorder paroxysmal nocturnal hemoglobinuria, into a $2 billion-a-year cash cow. But many other diseases remain underfunded or completely neglected. Patient groups help raise money for basic research and, if a drug emerges that seems promising, help recruit patients for trials. The stories from within their communities—like that of Heather and Jessica Tomko, who agreed through Cure SMA to speak with the media—can lead to awareness and help their cause. (Other SMA patient groups did not respond to inquiries from Xconomy.)
“These groups have now taken it upon themselves to drive research, to raise money, and to really stimulate scientists working on their diseases,” says Voyager Therapeutics (NASDAQ: VYGR) CEO and former Eli Lilly R&D chief Steve Paul. “It’s just remarkable how effective [patient groups] have been.”
They’re increasingly involved in the regulatory process as well. According to Cure SMA CEO Kenneth Hobby, his organization has been in contact with the FDA for some time about the disease and its impact on families and patients. Hobby says he hopes a … Next Page »