RARE Daily

Hitting a Wall

April 6, 2020

Terry Pirovolakis says he feels like crying, yelling, and punching a wall. It’s an expression of the frustration many people within the rare disease community feel in the face of fundraising and research efforts coming to a sudden halt as a result of the COVID-19 pandemic.

Pirovolakis’ son Michael, who is 2, has spastic paraplegia 50, an ultra-rare and progressive neurodegenerative disease. Pirovolakis has been working to raise $3 million to fund several research efforts to work towards treatments and a potential cure, including a gene therapy, with several projects moving in parallel.  

As researchers at the National Institutes of Health were 48 hours away from seeing data from a critical experiment of a possible gene therapy in cells from an SPG50 patient, the lab had to shut down because of precautions put in place to slow the spread of COVID-19.

Projects Pirovolakis is involved with at three other labs have been stopped as well and cells and fibroblast have been frozen for later use. Even a hackathon he recently organized, in which teams from around the globe worked to develop potential therapeutic strategies to pursue for SPG50 that was supposed to culminate in an expert panel judging presentations from different teams, has been left unfinished with the judging to be done at a yet-to-be determined future date.

Fundraising efforts have come to a standstill as well. Several events including several dance-a-thons, a golf tournament, and a walk from Toronto to Ottawa to meet the prime minister of Canada have been cancelled or postponed. Even signs intended to help raise awareness for SPG50 that were delivered to a group of mountaineers who were going to climb Everest have been put away as the expedition is on hold because of the pandemic. Last month, Nepal suspended permits for all mountain expeditions closing down all efforts to ascend the world’s highest peak.

Nevertheless, Pirovolakis considers himself luckier than some. He points to years of investment and efforts to develop animal models that have suffered setbacks, or clinical trials that have been stymied. Academic labs have had to euthanize laboratory animals bred as models for diseases as they have had to reduce populations due to extended closure without staff in place to care for lab animals.  

“It’s heartbreaking. We’re trying to work around this extreme nightmare that we’re all in and hope that it ends quickly so we can go back to normal. I want to cry. I felt like yelling, and want to punch a wall, but that’s not going to help anybody. All we can do is hope everyone comes out safe and healthy and we go back to normal,” he said. “All of our research has been paused. What takes a month or two, or potentially three months to get up and running again, is going to delay all of us in the rare disease space by at least six months.”

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