After groundbreaking CRISPR therapy, a homecoming

From my colleague Jason Mast: KJ Muldoon, the first infant treated with a personalized gene-editing drug, has been discharged from the hospital for the first time in his life, the Children's Hospital of Philadelphia announced Tuesday. After 307 days at CHOP, KJ was dressed in what early studies suggest are the world's smallest and cutest graduation cap-and-gown before leaving. KJ Muldoon

It's a promising sign for KJ, his family, and the therapy researchers built in just 6 months. Born with an ultra-rare disease that prevented his liver from breaking down ammonia, he was rushed to CHOP, where specialists kept him under strict monitoring to prevent ammonia from flaring and doing long-term damage. Typically, he would receive a liver transplant. Instead, scientists across the country teamed to devise a gene-editing treatment.

KJ received the first of three doses at six months old. He's now 10 months old. The hope is that, while not cured, he has been left with a far more mild version of his disease. Meanwhile, researchers are working on ways to scale his treatment for thousands of others.

CANCER

ctDNA testing surges, but impact remains unproven

Circulating tumor DNA blood tests are rapidly gaining popularity among oncologists for their potential to detect cancer recurrence and treatment resistance earlier than traditional imaging. But despite their promise, data presented at the annual ASCO meeting this week suggest that the clinical value of ctDNA tests is still unproven.

While some trials hint at benefits, others lack conclusive survival outcomes — which raises concern about whether early interventions based on ctDNA actually improve patients' lives.

"We need evidence to know the true value of these tests," University of Pennsylvania cancer researcher Angela DeMichelle told STAT's Angus Chen. "They have incredible potential to help people, but if we don't do the studies and don't do them the right way, we can hurt people."

rare disease

Vinay Prasad talks RCTs, endpoints at NORD

Vinay Prasad, the new chief of CBER at the FDA, spoke at a meeting of the National Organization for Rare Disorders yesterday. Though for years the firebrand oncologist emphasized the importance of rigorous randomized controlled trials, he now asserts that not every drug for every disease needs one — especially ultra-rare diseases. He cited the case of Baby KJ, saying "the U.S. FDA is firmly committed to making sure all of these therapies come through as quickly as posisble, and that people that people have access to these therapies as soon as possible."

He also appeared to strike a different tune on another issue for which he has demonstrated zeal: "Some people may think I'm a critic of surrogate endpoints and I only want overall survival. But I want to say the answer is both," he said, adding that the FDA "will take action at the first sign of promise for rare diseases."

The agency's approach, he said, is to "take action at the earliest statistically persuasive biomarker changes that are reasonably likely to predict clinical outcomes."

vaccines

Opinion: Change to Covid vaccine recommendations could jeopardize pregnant health

HHS Secretary Robert F. Kennedy, Jr.'s move to drop Covid vaccine recommendation for pregnant people represents a major ethical and public health setback, opines Johns Hopkins bioethicist Ruth Faden.

In a new First Opinion, she warns that reversing course on vaccination guidance ignores clear evidence of the vaccine's benefits for both mothers and their newborns — protection that's especially crucial in the face of heightened risks like preterm birth and stillbirth.

Faden, who helped lead national efforts to close the longstanding medical research gap around pregnancy in pandemics, says Kennedy's push to require randomized controlled trials is both scientifically unnecessary and ethically indefensible.