Penn Medicine and the Children's Hospital of Philadelphia will begin testing a new gene therapy for rare diseases following the release of a new Food and Drug Administration protocol on Nov. 12.
Penn Med cardiologist Kiran Musunuru and CHOP metabolic disease specialist Rebecca Ahrens-Nicklas worked with the FDA on the new protocol, which creates a path to regulatory approval for rarer-disease treatments. Penn and CHOP researchers will now utilize it to distribute customizable drugs that target specific genetic disorders.
“Nearly 30 years after the sequencing of the human genome, bespoke therapies are close to reality,” FDA Commissioner Marty Makary and Chief Medical and Scientific Officer Vinay Prasad wrote on the new protocol. “The FDA will work as a partner and guide in ushering these therapies to market, and our regulatory strategies will evolve to match the pace of scientific advances.”
In early 2025, Musunuru and Ahrens-Nicklas created a novel drug using the gene-editing technology CRISPR to treat an infant with a rare liver disorder. The infant became the first patient to ever receive a systemic, personalized gene-editing drug.
“I don’t think I’m exaggerating when I say that this is the future of medicine,” Musunuru, a translational research professor at Penn Med, said at the time. “This is the first step towards the use of gene-editing therapies to treat a wide variety of rare genetic disorders for which there are actually very few treatments currently in development at all.”
In the past, rare disease treatments have had trouble reaching the market as a result of protocols surrounding FDA clinical trials that disadvantage rarer diseases. The FDA's new “plausible mechanism” protocol dictates that one clinical trial can encompass varying treatments for individual genetic disorders, allowing individuals to receive injections customized to target their specific genetic mutation.
Musunuru said that he hopes their work will serve as a model going forward in an interview with The Philadelphia Inquirer.
“As academics, we think of ourselves as the top of the spear, going where the companies are reluctant to go,” Musunuru said.
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The researchers published their work with the FDA in the American Journal of Human Genetics.
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Staff reporter Kathryn Ye covers central administration and can be reached at ye@thedp.com. At Penn, she studies biochemistry and philosophy.
