BOSTON, Massachusetts—Researchers have made “remarkable progress” in advancing cell and gene therapies for rare diseases, but the US healthcare system—particularly the way clinical trials are conducted—simply cannot keep up with science.

That was the consensus of a panel of experts who spoke at the 2022 World Orphan Drug Congress (WODC) here.

“We’re looking at an amazing time,” said Samarth Kulkarni, PhD, CEO of Swiss biotech company CRISPR Therapeutics. “We’re blessed to have all these new platforms today, like CRISPR and mRNA, which we didn’t have 20 years ago. I think gene editing can go a long way for dozens of diseases.”

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In fact, investors poured $23 billion into the biotech sector in 2021, on top of the $21 billion invested in 2020, according to Janet Lynch Lambert, CEO of the Alliance for Regenerative Medicine (ARM).

“That’s a lot of money in the bank, and it’s really good news for the sector, and also for patients waiting for these therapies,” said Lambert, whose nonprofit coalition is currently tracking 2400 clinical trials around the world, including 140 therapies that are in phase 3.

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Yet even though “this could be a record-breaking year for gene therapies for rare disorders,” she said the current investment climate is very difficult.

“We focus our attention on the public policy changes that stand between us and where we want to be,” Lambert said, naming the biggest issues as reimbursement and market access. “We’ve got a 20th-century health system trying to accommodate 21st-century medicine . . . Part of what we see from payers is that there aren’t enough products on the market for them to change the way they do business. It shouldn’t be that hard to bring a new drug to market.”

Peter Marks, MD, PhD, directs the Center for Biologics Evaluation and Research (CBER) at the US Food and Drug Administration (FDA).

“We have an opportunity to help many groups of very small numbers of patients with different rare diseases, if we can find a way to manufacture products in a cost-effective manner and study them in a way that does not require our traditional development programs, which involve randomized, controlled clinical trials,” Dr. Marks said, speaking by video from FDA headquarters, adding that these challenges are not insurmountable.

“It just really requires us to think differently than we have in the past about how we overcome each of these obstacles, either with automated technologies for manufacturers or [pathways for] new accelerated approval,” he said.

ARM engages frequently with the FDA, particularly on chemistry, manufacturing, and control (CMC) issues “that are causing a lot of hangups on bringing new therapies to the market,” Lambert said.

“The number one challenge has been around CMC, so we’re working with the agency to get better clarity on that and simplify the process,” she said. “We’ve also published a best practices guide on how to approach [adeno-associated virus] manufacturing. A lot of individuals are being lured into this field, and so rather than have everybody start from square one, we pulled together a best practices guide.”


Keynote panel: Advancing cell and gene therapies for rare diseases: What challenges face developers in pre-commercialization and how can all stakeholders work to get therapies to rare patients faster? Presented at: World Orphan Drug Congress; July 12, 2022; Boston, MA.