closer look
A new gene therapy is 'amazing to see,' a mother says. Then there's the price
Adobe
Victoria Rasberry sees the difference a gene therapy can make every morning. Her 8-year-old daughter Addi needs thick mucus sucked out of her airways so she can breathe. She eats breakfast from a feeding tube and must take 28 different medications to prevent pain, infections, and seizures. Her brother Oliver, age 3, is a typical giggling toddler. The children share a genetic mutation that causes a fatal neurodegenerative disease called metachromatic leukodystrophy, or MLD, but as a baby he was treated in Italy with what its maker said today will cost $4.25 million in the U.S., making it the most expensive drug in history.
"When Addi was this age she had lost the ability to speak and was already using a ventilator to sleep at night," Raspberry said. "It's amazing to see how well Ollie is doing in comparison. And it's all because of the gene therapy."
On Monday the U.S. FDA approved Orchard Therapeutics' gene therapy Lenmeldy, an achievement decades in the making from parents' efforts, researchers' experiments, and a company's experience with other gene therapies that failed. Now there's the hurdle of that price. "It may take months sometimes to get those things worked out," Paul Orchard of the University of Minnesota said about insurers. "And some of these kids aren't going to have months to screw around." STAT's Jason Mast and Megan Molteni have more on the complicated story.
climate
Heat waves hit already vulnerable counties harder, study finds
A new research letter published yesterday in JAMA Network Open reminds us that summer is coming, and, with it, heat waves driven by climate change that challenge health and health care. You might be familiar with heat islands in cities, but this analysis looked more broadly at counties in the U.S., measuring how many activated emergency medical services to cope with heat-related illnesses, which can include cardiovascular problems, heat stroke, sepsis, and kidney failure.
Across the country during a July 2023 heat wave, the researchers found, nearly one-quarter of counties had high EMS activation. The burden was higher in socially vulnerable and disadvantaged communities, as defined by CDC metrics and an index from the University of Wisconsin. "These communities are already at greater risk for cardiovascular disease, with lower access to primary care compared with other counties," the authors write, urging investment targeting these communities to improve their heat resilience.
science
Intermittent fasting is making people drop dead, a study says. Really?
At the risk of giving more oxygen to a study of dubious merit, I do think you should read my colleague Matt Herper's takedown of coverage saying a popular fad diet is apparently lethal, citing scientific research to be presented at an upcoming conference. Maybe you saw headlines and stories pinning a 91% higher risk of death due to cardiovascular disease on intermittent fasting. Here's why he says it's nonsense and not worth your brain cells: The study, now available only as a press release, depends on observational research, the kind we know cannot establish cause and effect.
That's a particular weakness of nutritional research because it's hard to randomize people to eat or not eat something for years — and accurately recall if they did. Crucially, it leaves out what might be different about people with different results. Case in point: the French paradox, the hypothesis "that red wine let Parisians down croissants, foie gras, boeuf bourguignon, raclette, and moules frites without the heart attacks the researchers expected." Au contraire, mon frère. Read more.
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