RARE Daily

A Partnership to Save Money and Time

August 21, 2020

While a student attending Harvard Business School, Rich Horgan liked to pick the brains of leading researchers in the hope of finding some way to help his brother Terry, who had the rare neuromuscular condition Duchenne muscular dystrophy.

He became excited by the work of Boston Children’s Hospital researcher Timothy Yu, who had developed a customized therapy for a young girl with a form of the deadly neurological condition Batten disease, and eventually founded the nonprofit Cure Rare Disease to develop customized therapy for his brother and other patients like him.

Cure Rare Disease has relied on collaboration with researchers and institutions to work toward an experimental therapy. Now that the team is moving toward a clinical trial that will dose Terry with an experimental gene therapy, the organization has entered a new collaboration.

Earlier this week, Cure Rare Disease said it formed a strategic partnership with Columbus Children’s Foundation, a nonprofit biotech that advances and accelerates gene therapy programs for ultra-rare genetic diseases with populations too small to attract investment and corporate interests. The foundation sees a critical role for itself to work with people developing gene therapies for n of 1 or ultra-rare diseases by helping with translational work, and leveraging its relationships with its co-founders, the contract development and manufacturing organization Viralgen Vector Core and the gene therapy developer AskBio, to help organizations like Cure Rare Disease navigate what’s ahead.

“We work with programs that are clinically promising and not commercially viable. If they were brought forward in a commercial manner, the costs would be so prohibitive that it would create equity and access issues,” said Laura Hameed, executive director of Columbus Children’s Foundation.

Hameed said while Columbus Children’s Foundation can provide an estimated 60 percent reduction on the commercial sticker price of what a gene therapy for an ultra-rare condition might command—about a $3 million savings in the case of Cure Rare Disease—perhaps more critical is the speed at which it can help an experimental therapy advance.

“With rare disease programs time equals life,” she said. “Being able to get programs in a queue to be developed without an 18- to 24-month wait is a significant value add that our foundation is able to bring the programs that we work with.”

Duchenne muscular dystrophy is characterized by progressive muscle degeneration and weakness that primarily affects boys with symptoms beginning as early as three years of age. It is caused by an absence of dystrophin, a protein that helps keep muscle cells intact. Progressive muscle weakness in the lower limbs spreads to the arms, neck and other areas of the body. The condition is universally fatal, and death usually occurs before the age of 30 generally due to respiratory or cardiac failure.

Cure Rare Disease is preparing to sit down with the U.S. Food and Drug Administration in September for a meeting to discuss its filing of an application to begin a clinical trial that would dose Terry with the experimental gene therapy. The gene therapy the organization has developed is delivered through a viral vector and uses CRISPR to activate an isoform of the dystrophin gene. The approach, which has been shown to work in the lab on cells grown from Terry’s own, is expected to provide him with an alternative way of producing the protein he needs.

Terry is now 25. He is no longer able to walk, his upper limb strength is weakening, but his mind is sharp.

“Our goal is not for him to get up and start playing basketball. Of course, we’d welcome that, but we want to keep our expectations tempered in the sense that at the very least, we want to pause the disease,” said Horgan. “If we see some upside in terms of improved motor function in the upper gate, then that’s fantastic.”

Collaborations are often thought about in terms of their economic value, but the role Columbus Children’s Foundation plays is a reminder about the value of time. People like to say, “time is money,” but there’s usually a way to find more money. Time is another story.

Photo: Rich and Terry Horgan

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