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By Jacqueline Lisk
| July 3, 2020
Rich Horgan created Cure Rare Disease (CRD) as a way to save his brother. Now, there are other lives at stake.
CRD, a Boston-based biotech nonprofit, began in 2018 while Rich was a Blavatnik Fellow in Life Science Entrepreneurship at Harvard Business School. Its mission is to develop precision medicine for patients with rare diseases, starting with Rich’s brother, Terry.
Terry has been battling Duchenne muscular dystrophy (DMD), a rare and fatal inherited muscular disease, for nearly two decades. His condition was caused by an ultra-rare gene mutation so he has never been eligible for clinical trials — until now.
CRD has assembled a cross-functional team of more than 15 world-renowned geneticists and clinicians who are using CRISPR gene-editing to design what will hopefully be a life-saving customized genetic therapeutic for Terry and others with DMD. The team is applying what they learn to create personalized treatments for a cohort of 10 other patients who, like Terry, had little or no hope until now.
In 2019, CRD showed in-vitro proof of concept for this custom CRISPR therapy: essentially, they showed they could correct Terry’s DNA in a petri dish. Now they are working on mouse testing and dosing in partnership with Charles River Labs and navigating the FDA-approval process. Rich thinks they could have the first FDA-approved, human clinical administration by the end of this year or early 2021.
But time is not on their side. Most people with DMD don’t live past their early 20s. Terry is 25. In December 2019, he took a bad fall and fractured both his femurs. The accident reminded Rich how fragile Terry’s situation is. But still, he is hopeful.
“We don’t expect him to get out of his wheelchair and start playing basketball,” says Rich. “We do hope we can improve upper limb mobility and cardio function to the point where he can enjoy life without the imminent threat of his disease.”
In addition to scientific research, CRD is working on building the ecosystem and infrastructure to support individualized drug development for those with rare conditions. Whether or not treatments that are tailor-made for an individual become commercially viable is an open question, but if you compare the cost of treatment to the cost to care for a Duchenne patient, for example, individualized therapeutics could prove cost-effective, Rich says.
Other families hanging their hopes on CRD
CRD’s work is also personal for board member Stephanie Herzog, an interior designer from Branford, CT. A routine blood test led to her son Max’s DMD diagnosis when he was six months old. He had no symptoms.
“It felt like a nightmare, like a bad dream we couldn’t believe. From that point forward, we had a looming cloud over our head,” Herzog says.
She and her husband, Jesse, were willing to travel anywhere and spend anything. “But there was nothing to beat this,” she says. “That was a tough pill to swallow.”
The family vowed to make the most of every moment — and they did. But living life to the fullest gets exhausting, admits Herzog, when you are a working mom with three children. The Herzogs met Rich when Max was about two-and-a-half through one of Jesse’s business associates. For the first time, they felt hopeful.
Max, who will turn five in July, is going through the same genetic editing process that appears it could work for Terry. To say the family is excited is an understatement.
“Words don’t do it justice. To think my son, God willing, won’t even know he has this disease would be beyond our wildest dreams, but certainly prayers answered,” Herzog says.
CRD could mean “prayers answered” for other patients living with rare genetic disorders, but the nonprofit won’t succeed without donations, and COVID-19 has negatively impacted their fundraising.
To learn more or to donate, visit https://cureraredisease.org.
Sponsored by Philip Morris International
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