Emily Kramer-Golinkoff founded Emily's Entourage in 2011 to speed up research for the final 10% of CF patients. Emily's Entourage For the vast majority of cystic fibrosis patients, new drugs have been life-changing, transforming a debilitating lung disease into a manageable condition. But for about 10% of patients born with other genetic mutations, these treatments don't work.
"We have been left behind," said Emily Kramer-Golinkoff, who founded a nonprofit, Emily's Entourage, to speed up research for what she calls "the final 10%" of CF patients who don't respond to the current treatments or experience side effects. As the cystic fibrosis community gathers this week in Atlanta for its largest annual gathering , Kramer-Golinkoff is hoping those patients will be a big part of the conversation, particularly after recent scientific setbacks. In May, Vertex and Moderna stopped a clinical trial of a drug that used mRNA, the technology behind the Covid vaccines, to treat those CF patients in the 10%, citing tolerability issues.
In February, the drugmaker Boehringer Ingelheim ended a trial of a gene therapy for CF. Over four decades ago, when Kramer-Golinkoff was diagnosed with the progressive and fatal genetic disease at six weeks old, a failed clinical trial would have been where the story ends. But today, thanks largely to her nonprofit's work, there are rays of hope.
Affecting about 40,000 Americans, cystic fibrosis causes thick, sticky mucus to build up in the lungs, creating life-threatening lung infections and respiratory failure. About 90% of patients with the disease have a certain genetic mutation and can benefit from Trikafta and a newer-version, Alyftrek, which are both made by Vertex Pharmaceuticals. By improving the function of a protein called CFTR that maintains the balance of salt and water in the body, the drugs thin the mucus in a patient's lungs.
A 2024 article in The Atlantic, headlined "The Cystic-Fibrosis Breakthrough That Changed Everything," described how those patients can now run up stairs and take part in 1o-K races. 90% of CF patients have effective treatment options available, but these treatments do not work for the remaining 10% of patients. Emily's Entourage But for patients like Kramer-Golinkoff who don't produce a fully functional CFTR protein to benefit from those drugs, the big breakthrough didn't change much. Since its creation in 2011, Emily's Entourage has raised more than $22 million and funded 51 research projects developing multiple therapeutic approaches, including antisense oligonucleotides, or ASOs, small molecules and gene therapies.
Delivering a drug to the right cells presents an especially difficult scientific problem because the lung is an organ designed to keep things out. Adding to that challenge, the lung of a CF patient is filled with mucus. "It's incredibly challenging in a healthy lung," said Chandrabali Ghose, chief scientific officer for Emily's Entourage.
"But it's orders of magnitude more difficult in a CF lung." One promising gene therapy developed by Spirovant Sciences could work regardless of a patient's genetic mutation. The drug is now in an early-stage clinical trial . Emily's Entourage is also investing in other approaches — phages, which are naturally occurring viruses that kill bacteria, and antimicrobials – that treat drug-resistant infections that can ultimately be fatal for CF patients.
"We see these as buying-time initiatives," Ghose said. The foundation's work could ultimately help patients with other conditions, including people who suffer from joint and skin infections. Her group is also funding research into nonsense mutations, which are changes in DNA that cause the cells to stop making proteins earlier than they should, causing diseases.
What scientists learn from that research could be relevant to patients with a range of rare genetic conditions. "We all benefit when there's a leap forward," Kramer-Golinkoff said. Many people hear about the progress for 90% of the CF community and think we've figured it out, but that is not true.
Those in the final 10% are still contending with the same killer disease that CF has always been." Emily Kramer-Golinkoff Emily's Entourage Founder Kramer-Golinkoff sees hope in the story of Baby KJ , which has spurred regulatory changes aimed at allowing scientists to develop custom-made drugs for individual patients. There are about 2,000 genetic mutations that cause cystic fibrosis. Many are extremely rare, affecting just a small handful of people.
Perhaps her biggest challenge is combating the misconception that cystic fibrosis has been cured, which stifles investment into new treatments. "Many people hear about the progress for 90% of the CF community and think we've figured it out, but that is not true," Kramer-Golinkoff said. "Those in the final 10% are still contending with the same killer disease that CF has always been." Now 41, Kramer-Golinkoff is grateful to be alive.
Most CF patients at her stage are dying or receive lung transplants. But her life isn't easy. She's on antibiotics to control chronic infections in her lungs, takes supplemental oxygen around the clock, injects multiple shots for diabetes that's related to CF, and takes over 30 pills — all to salvage what lung function she has left and delay progression of the disease.
She knows she's not unique, and that it's important not to forget this group of patients who are still waiting for their big medical breakthrough. "There are a lot of other people in the same boat as me," she said. "We don't have time to wait." CNBC Cures is underwritten by Alexion, AstraZeneca Rare Disease.
Source: CNBC
