Emily Kramer-Golinkoff founded Emily’s Entourage in 2011 to accelerate research for the final 10% of CF patients.
Emily’s entourage
For the vast majority of cystic fibrosis patients, new medications have changed lives, turning a debilitating lung disease into a manageable condition.
But in about 10% of patients born with other genetic mutations, these treatments don’t work.
“We’ve been left behind,” said Emily Kramer-Golinkoff, who founded the nonprofit Emily’s Entourage to accelerate research for the “last 10%” of CF patients who don’t respond to current treatments or experience side effects.
As the cystic fibrosis community gathers in Atlanta this week for its largest annual meeting, Kramer-Golinkoff hopes these patients will play a big role in the conversation, especially after recent scientific setbacks. In May, Vertex and Moderna halted a clinical trial of a drug that used mRNA, the technology behind Covid vaccines, to treat 10% of CF patients, citing tolerability issues. In February, drugmaker Boehringer Ingelheim ended a trial of gene therapy for CF.
When Kramer-Golinkoff was diagnosed with the progressive and fatal genetic disease over four decades ago at six weeks old, the story should have ended with a failed clinical trial. But today, thanks largely to the work of her nonprofit, there are bright spots.
About 40,000 Americans are affected by cystic fibrosis, which causes thick, sticky mucus to build up in the lungs, leading to life-threatening lung infections and respiratory failure. About 90% of patients with the disease have a specific genetic mutation and may benefit from Trikafta and a newer version, Alyftrek, both made by Vertex Pharmaceuticals. By improving the function of a protein called CFTR, which 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 these patients can now run up stairs and compete in 1o-K races.
90% of CF patients have effective treatment options, but for the remaining 10% of patients, these treatments do not work.
Emily’s entourage
But for patients like Kramer-Golinkoff, who don’t produce fully functional CFTR protein to benefit from these drugs, the big breakthrough didn’t change much.
Since its founding in 2011, Emily’s Entourage has raised more than $22 million and funded 51 research projects developing various therapeutic approaches, including antisense oligonucleotides, or ASOs, small molecules and gene therapies.
Delivering a drug to the right cells presents a particularly difficult scientific problem because the lung is an organ designed to keep things out. Adding to this challenge is the fact that a CF patient’s lungs are filled with mucus.
“In a healthy lung, it’s an incredible challenge,” said Chandrabali Ghose, chief scientific officer of Emily’s Entourage. “But with CF lung it’s orders of magnitude more difficult.”
A promising gene therapy developed by Spirovant Sciences could work regardless of a patient’s genetic mutation. The drug is currently in early clinical trials.
Emily’s Entourage is also investing in other approaches – phages, which are naturally occurring viruses that kill bacteria, and antimicrobials – to treat drug-resistant infections, which can ultimately be fatal for CF patients.
“We view these as buy-time initiatives,” Ghose said.
The foundation’s work could ultimately help patients with other conditions, including those suffering from joint and skin infections. Her group also funds research into nonsense mutations, changes in DNA that cause cells to stop producing proteins sooner than they should, causing disease. What scientists learn from this research could be relevant for patients with a range of rare genetic diseases.
“We all benefit when there is a leap forward,” said Kramer-Golinkoff.
A lot of people hear about the progress for 90% of the CF community and think we have it figured out, but that’s not true. The last 10% are still struggling with the same deadly disease that cystic fibrosis has always been.”
Emily Kramer Golinkoff
Emily’s Entourage founder
Kramer-Golinkoff sees hope in Baby KJ’s story, which has spurred regulatory changes designed to allow scientists to develop tailored drugs for individual patients. There are approximately 2,000 genetic mutations that cause cystic fibrosis. Many are extremely rare and only affect a small handful of people.
Perhaps their biggest challenge is combating the misconception that cystic fibrosis is cured, which hampers investment in new treatments.
“A lot of people hear about the progress for 90% of the CF community and think we have it figured out, but that’s not true,” Kramer-Golinkoff said. “The last 10% are still battling the same deadly disease that cystic fibrosis has always been.”
Kramer-Golinkoff, 41, is grateful to be alive. Most CF patients at her stage die or receive a lung transplant. But her life is not easy. She takes antibiotics to control chronic infections in her lungs, takes supplemental oxygen around the clock, injects multiple shots for cystic fibrosis-related diabetes, and takes over 30 pills – all to restore her remaining lung function and slow disease progression.
She knows she is not unique and that it is 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.