NAUTIL.US | TEXT SETS really strange gene mutation that was completely inex- about clinical trials,” Spencer says—and then another plicable.” She says it has been a hard disease to study, _ five years before the drugs can be commercially avail- partially because the implicated protein is unstable able, she estimates. and partially because it was a rarity among the orphan Wrubel’s coalition intends to get pharmaceutical diseases. When it comes to funding, calpainopathy companies interested, too. “Many pharmaceutical com- has been overshadowed by other forms of muscular panies see treating orphan diseases as a way to increase dystrophy. “Muscle studies have been underfunded profits,” Wrubel says. Her husband, Lee, adds, “The forever and certainly a rare disease like 2a especially whole model for big pharmaceutical companies going underfunded,” Spencer says. forward is different. There is too little in the big phar- In 2010, Wrubel formed the nonprofit Coalition to maceutical pipeline, and they’re looking to feed that Cure Calpain 3. In the quest for a cure, she says, “It’s beast as much as possible.” A 2012 Thomson Reuters a matter of patients taking charge of their diagnosis.” study found that drug companies stand to profit from She reached out to other sufferers via Facebook, and — orphan drugs because, compared to drugs for common some donated money. She partnered up with two other afflictions, they often have shorter and less expensive nonprofits that had raised funds on their own, both — clinical trials, with more success. Spencer says a drug started by those afflicted with Type 2a. So far Wrubel’s for calpainopathy, for instance, would also be useful efforts have gathered close to half a million dollars. for patients with Lou Gehrig’s Disease and bed rest With that money, she has funded a project with Louis patients, as 1t would help arrest the loss of bone and Kunkel, professor of genetics and pediatrics at Boston muscle mass. Wrubel hopes to bring Cydan Develo