Just Another Day at the Office

Driven by a sense of urgency, advocates like FARA's Ron Bartek are increasingly entering the drug-development business. Venture philanthropy has emerged as a logical (if last-resort) weapon in the fight against rare diseases as a growing number of groups are investing in companies in order to advance innovative discovery projects—often bankrolled by their own fundraising—across the so-called Valley of Death, the lab-to-clinic passage where most such projects expire. The Cystic Fibrosis Foundation alone has helped fund more than 30 compounds, including sinking $75 million into Vertex Pharmaceuticals to advance two novel mechanism of action into human bodies.

When they started down this road 12 years ago, the Barteks had only one advantage: political connections. He was a lobbyist on Capitol Hill; she was the manager of Rep. Billy Tauzin's Washington, DC, office. Aided by Tauzin, they sprang into action, stopping first at the National Institutes of Health, where they met Dr. Giovanna Spinella, a pediatric neurologist in charge of ataxia research. "She became our guardian angel," Bartek says. Spinella gave them their first lesson in patient advocacy. "We told her, 'We're here to ask you for your help,'" says Bartek, "and she said, "No, you are going to help us. You are the ones to start the organization and teach us about Friedeirch's ataxia.'"

"We knew we had to do more than raise awareness and raise funds for research," Bartek says. "We wanted to get a drug as fast as possible—and that meant creating an entire infrastructure and collaborating with many different stakeholders." Eventually, FARA would boast a global registry of more than 1,200 patients, nine clinical-research sites, an FA natural-history database, and a range of R&D-essential translational tools, including mouse models to screen drugs, cell lines developed from their patients' blood and tissue samples, and clinical endpoints and biomarkers for trials.

On the drug development front, a single French researcher was testing a compound called idebenone in FA patients with heart disease. Takeda held the patent. "Our scientific director called Takeda US to ask if we could borrow the drug to do research," says Bartek. "They said, 'You're a rare disease? We're not interested.'" So the Barteks turned to their pal Tauzin, who just happened to be chair of the House Energy and Commerce Committee. "Before we knew it, the company had donated all the drug they had left."

After the NIH agreed to sponsor the first-ever FA conference, they struggled to fill the room, digging up 88 scientists from around the globe who were doing research on anything related to FA. The conference next year will feature some 200 FA-focused researchers.