What's changed about rare disease medicine

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Last week, Endpoints News published my in-depth story about teenager Connor Dalby, who for nearly all of his life has suffered constant seizures. In March, Connor received the first dose of a bespoke treatment for his one-of-a-kind genetic disease.

I’ve been following Connor and his family for more than three years. And during that time, a huge amount has changed in the world of ultra-rare diseases, both with the researchers trying to help patients, and with the regulators overseeing it all. 

In some ways, it’s gotten much more difficult to develop drugs, particularly for conditions that are especially rare. A wider industry downturn has led many companies to abandon promising therapeutics. 

But I got a firsthand look at scientific advances that spell real promise. The n-Lorem Foundation seized on antisense oligonucleotides — a customizable drug technology — to develop 17 medicines, including one for Connor’s unique case. The group eventually aspires to treat thousands of patients like him. 

Whether n-Lorem will succeed remains to be seen. But there’s now a wider conversation going on about how our scientific, investing and regulatory systems grapple with diseases and patients who often don't fit our current constructs. Last week, for example, Nobel Prize winner Jennifer Doudna and others published a piece in Nature Medicine outlining a roadmap to slash the cost of creating gene therapies. 

Even if people like Doudna can figure out the economics, there are still questions about whether the FDA can figure out how to deal with an influx of these programs. As part of my reporting, I asked Peter Marks, the FDA’s director of the Center for Biologics Evaluation and Research, about this. He pointed to the agency’s efforts to develop a so-called platform policy that could allow drug developers to simultaneously target multiple diseases without redoing critical work. 

"It could be something that makes an unattractive business proposition a more attractive one," Marks said. (After our interview, Marks announced another FDA initiative: a Rare Disease Innovation Hub that aims to unify the agency’s approach to rare disease medicines.)

Marks is pushing the FDA toward more regulatory flexibility (though not without controversy), just as groups like n-Lorem and others are trying to push ahead with trials, drugs and funding models. The problems that have held back rare disease medicine won’t go away anytime soon. But there’s undeniable momentum to address them.

— Jared Whitlock, features editor

Read more stories about how treatments for rare diseases are being developed:

A teenager faced constant seizures. Could a drug developed just for him stop them?: Connor Dalby’s shrieks filled his playroom, and the rest of the house. The teenager hushed when his mom, Kelley, asked a long-coming question: “Are you ready for the big day tomorrow?”

FDA announces rare disease hub in bid to streamline treatment paths: The FDA will launch a rare disease center to unify its policies and find new ways to evaluate drugs that can pose a regulatory dilemma, it announced Wednesday.