FDA says it will speed up rare disease treatment approvals - Spectrum News

WASHINGTON — The U.S. Food and Drug Administration announced a new strategy on Monday to speed up treatments for rare diseases. Called the plausible mechanism framework, the draft FDA guidelines establish a new approval process for individualized therapies for rare disorders.

“This framework aligns regulations with biology for ultra-rare conditions,” Health and Human Services Secretary Robert F. Kennedy Jr. said at an event where he was joined by FDA Commissioner Dr. Marty Makary and the parents of children with rare diseases. “Randomized control trials are mostly just not feasible.”

In the United States, there are over 10,000 rare diseases that affect more than 30 million Americans, according to the National Organization for Rare Disorders, which maintains a database of conditions. Caused by environmental factors, genetics or metabolic issues, they are frequently life threatening, progressive or chronic, according to Rare Diseases International.

Because randomized controlled trials typically take years, cost millions of dollars and involve large numbers of patients, and because rare disorders can affect only a small handful of people, treatments for rare conditions can take years to approve if they’re approved at all, HHS officials said.

“For decades, families heard the same thing: There are not enough patients. The approval will take too long. You just have to wait for the science to catch up with your child,” Kennedy said. “That ends today.”

The new approval guidelines for rare disease treatments is the latest FDA effort during President Donald Trump's second term to accelerate timelines and reduce regulatory oversight for medications — moves that have drawn praise but also raised concerns about safety standards.

A handful of medical groups did not respond to Spectrum News' requests for comment on the new framework.

Monday’s draft guidance focuses on treatments that target specific cellular, genetic or molecular abnormalities that are designed to correct or modify their underlying causes. Key criteria for FDA approval include a demonstration that the therapy targets the root cause and confirmation that the cause has been successfully targeted with a drug or gene editing, the HHS said.

Kennedy cited the successful treatment of KJ Muldoon, also known as Baby KJ, who was born in August 2024 with a fatal metabolic disorder and survived after being successfully treated with a customized gene-editing therapy at the Children’s Hospital of Philadelphia.

“Every child facing a rare genetic disease deserves the same kind of treatment that KJ got,” Kennedy said.

Under the new framework, a disease with 100 mutations of the same gene would no longer require 100 clinical trials, Kennedy said, adding that the guidelines require long-term safety monitoring.

“Innovation without accountability destroys trust,” he said. “Regulation without flexibility destroys hope. We reject both extremes. We choose innovation and accountability.”

The FDA’s Center for Drug Evaluation and Research will conduct the reviews of so-called investigational new drugs, clustering treatments that work with similar mechanisms, such as gene editing, into a single clinical trial.

“Our system is built for common diseases not for rare ones,” Makary said Monday. “Historically rare diseases have been at the FDA an afterthought. Rigorous, elaborate standards are so high that they’re just not practical for many of the therapies for rare diseases.”

Makary said the new framework is designed to give drug developers a path to accelerate their rare disease treatments with approval based on the experiences of individuals.

“I’ve taken care of many patients with rare diseases,” said Makary, who was a surgical oncologist at Johns Hopkins University School of Medicine prior to joining the FDA. “I’ll tell you it’s hard to look somebody in the eyes and say there’s nothing out there that we know of that we can offer you.

“When you’re in that situation at the bedside, you ask yourself, ‘Is there anything out there or anything humanly possible that we can do differently?’ That is the perspective I bring to the FDA.”

The FDA came under fire last week when it said it would not review Moderna’s new mRNA flu vaccine, saying it hadn’t compared its standard-dose shot to a high-dose formulation for people over the age of 65. It reversed course last week after working with Moderna to revise its application.