FDA clears first gene therapy for Sanfilippo syndrome

The FDA yesterday approved Ultragenyx’s Fayuvi, the first treatment specifically cleared for Sanfilippo syndrome type A, an ultra-rare neurodegenerative disease. The one-time gene therapy was approved for patients who still have preserved neurodevelopmental function, after studies showed that children treated early continue to develop cognitively when they otherwise would have been expected to decline.

The approval comes after the FDA rejected Fayuvi last year over manufacturing concerns, and marks a notable use of natural history data rather than a randomized trial to establish efficacy. The approval also gives the company a much-needed win after several clinical setbacks — plus a rare pediatric disease priority review voucher potentially worth more than $100 million, STAT’s Jason Mast writes.

“It’s hard to overstate what this approval would mean for everybody who is living with this really horrific disease and watching their children suffer and pass away early, and all the rest that it brings,” said Cara O’Neill, chief science officer of the Cure Sanfilippo Foundation. “This, gosh, would just finally mean when patients and families receive this shocking diagnosis, they wouldn’t be told to … take their kids home and love them. They would be given hope and an action plan for treatment.”

clinical trials

Xenon Pharma has good news and bad news

Naturally, the company's press release yesterday evening led with the good news. A marketing application for azetukalner, its experimental treatment for a common type of seizure disorder, was submitted to the FDA.

Xenon disclosed the bad news further down in the release: A "voluntary pause" on patient enrollment was placed on studies of azetukalner that have been underway in major depressive disorder and bipolar depression due to "neuropsychiatric adverse events" described as confusion, loss of speech, poor coordination, and psychosis.

The company said the side effects were transient and manageable, and that the enrollment pause was likely to be temporary. Investors were less certain, sending shares down sharply in pre-market trading this morning.

podcast

Definium's new psychedelics data, and a reprieve for international scientists

International researchers got a reprieve in the courts this week. But many are still considering leaving the states for opportunities elsewhere. What does that mean for the future of American medical research?

We discuss that, plus the latest news in the life sciences, on this week’s episode of “The Readout LOUD.”

STAT reporter Jonathan Wosen and Fanta Aw, the executive director of NAFSA: Association of International Educators, join the podcast to discuss a recent court decision around foreign visas for students. We also discuss the Definium’s psychedelics data and what it means for that field as a whole.

Listen here.

research

Roche expands its Boston footprint with new research center

From STAT's Adam Feuerstein: Roche opened a new biomedical research center in the Allston neighborhood of Boston yesterday, joined at the ribbon-cutting ceremony by Massachusetts Gov. Maura Healey, Boston Mayor Michelle Wu, and other politicians.

The Roche Genentech Innovation Center Boston will serve as the Swiss pharma giant's drug discovery and R&D hub for cardiovascular, renal, and metabolic diseases. The new facility, with labs and office space for 500 employees, will also house data scientists and AI specialists.

"These are some of the most significant health care challenges we face, and all are very closely linked," said Roche Group CEO Thomas Schinecker, in remarks at the opening ceremony. "If you want to make a real difference, you cannot look at obesity alone or the heart and kidney separately. You have to understand how these diseases are all interconnected, and to do that, you have to connect the science as well, and that is what we want to do here."

The new Roche facility is part of Harvard University's Enterprise Research Campus, a mixed-use development of lab and office space, apartments, retail, a hotel, and a conference center. The project, located adjacent to Harvard Business School on former industrial land, is being developed by Tishman Speyer and Breakthrough Properties, the real estate company owned by biotech mogul Arie Belldegrun.

washington

Confirmation hearing is set for FDA nominee

From STAT’s Margaret Manto: The Trump administration’s nominee as commissioner of the FDA, Heidi Overton, is scheduled to appear before a Senate committee next Thursday for her confirmation hearing.

Overton is a preventive medicine physician who most recently served as deputy assistant to the president for domestic policy, and has been closely involved in shaping the MAHA Movement’s federal policy goals. She previously served as vice chair and chief policy officer at America First Policy Institute, a think tank founded by Agriculture Secretary Brooke Rollins.

Overton recently drew criticism from Sen. Bill Cassidy (R-La.), the chairman of the health committee, for her role in crafting an executive order that further upended the childhood vaccine schedule. But Cassidy told STAT this week that he had several “very cordial” meetings with Overton, who is also a staunch abortion opponent. Cassidy has pursued further restrictions on medication abortions.

Next week’s hearing will likely touch on both vaccines and abortion, among other issues. Senators will also likely question Overton about her lack of managerial experience. If confirmed, she would succeed her former research adviser, Marty Makary, as commissioner.

cancer

Rare variant sharply raises lung cancer risk in non-smokers

Why do some non-smokers develop lung cancer? Researchers have identified a rare inherited EGFR variant associated with dramatically higher odds of lung cancer, particularly among people who have never smoked. The variant, T790M, was found in just 641 of more than 10 million people, but carriers had 25-fold higher odds of lung cancer overall and roughly 60-fold higher odds among never-smokers.

The variant is unusually concentrated in Southern Appalachia. In that population subset, prevalence reaches as high as 1 in 2,000 people in some areas, STAT’s Andrew Joseph writes.

“It demonstrates that in some people, inherited genetic susceptibility can produce profound lung cancer risk,” said Jaclyn LoPiccolo, a thoracic oncologist at Dana-Farber and the lead author of the study.

Thanks for reading! Until next week,

rare disease