Drucy S. Borowitz, MD.

Drucy S. Borowitz, MD, was a leading figure in cystic fibrosis care and research in Western New York for decades.

Borowitz Oversaw Key CF Research Breakthroughs

(EDITOR’S NOTE: This is the second installment in a three-part series recognizing Cystic Fibrosis Awareness Month.)

By Dirk Hoffman

Published May 15, 2024

Drucy S. Borowitz, MD, clinical professor emeritus of pediatrics at the Jacobs School of Medicine and Biomedical Sciences, was a leading figure in cystic fibrosis care and research in Western New York for decades.

“Our Therapeutics Development Center in WNY helped to study almost every drug of the modern CF era. ”
Drucy S. Borowitz, MD
Clinical professor emeritus of pediatrics at the Jacobs School of Medicine and Biomedical Sciences

She directed the Cystic Fibrosis Center at the former Women & Children’s Hospital of Buffalo (WCHOB) for more than 25 years, where she also served as chief of pediatric pulmonology.

Borowitz is an internationally recognized expert in nutrition and the involvement of the intestine and lung in cystic fibrosis and was a leading researcher of enzyme replacement therapy to correct digestive abnormalities in cystic fibrosis patients.

Dramatically Changing Course of the Disease

She led the CF Therapeutics Development Center at WCHOB, which helped in the development of the breakthrough drug ivacaftor — a cystic fibrosis transmembrane conductance regulator (CFTR) modulator. The first patient in a multisite clinical trial study was enrolled in Buffalo in 2009.

“Ivacaftor was a ‘proof of concept’ medicine. Although it did not treat the most common CF mutation, it was the first time we used a CFTR modulator (a drug that changes the function of the CF transmembrane regulator protein, the protein that forms the channel that is ‘broken’ and thus causes the disease CF),” Borowitz said.

“If it hadn’t worked, it would have meant that we were going down a blind alley and would have to start all over,” she added. “Ivacaftor has been used in combination with other modulator drugs to ‘fix’ the CFTR protein produced by other CFTR mutations, some of which are common and some of which are quite rare. Ivacaftor is a basic building block of modulator therapy.”

When drugs are developed, they are usually tried in adults first, with a steady expansion of age eligibility once safety studies are complete.

In February 2024, ivacaftor was approved for use in infants as young as 1 month of age.

“Using this powerful drug shortly after the diagnosis is made can prevent most symptoms of CF from occurring,” Borowitz says.

Playing An Important Role in Drug Studies

Borowitz says the newest medication has dramatically changed the course of the disease for many, though not all, people with CF. (It’s actually a combination of three drugs: elexacaftor-tezacaftor-ivacaftor; brand name Trikafta, often called ETI).

“People with CF did not live beyond childhood when Dr. Erika Bruck, the first ‘CF physician’ in WNY started to provide care,” she said. “By the time I started in 1989, some people with CF were living to mid-adulthood, but not most. There were still many deaths of people in their teens and 20’s.”

“I retired as the ‘Trikafta era’ began. The CF Foundation now estimates the median survival for all people with CF in the U.S. to be 56 years of age or older,” Borowitz added. “Our expectation for children and young infants who are able to start modulator drugs such as ETI early in life is that they will have a full lifespan.”

“Our Therapeutics Development Center in WNY helped to study almost every drug of the modern CF era,” she said. “Progress has been incremental and many of the drugs we studied and helped bring to market are not as transformative as ETI, but are still important.”

For example, Borowitz noted that one person who participated in a study of an inhaled antibiotic felt so much better that she mused, “people often wonder how they would react if their doctor told them they only had six months to live, but what if you thought you had a fatal condition and then you realized that you would live?”

“That inhaled antibiotic enabled that person to live long enough to benefit from ETI.”

Borowitz noted one of the great things about ETI is that it improves function in many parts of the body. For example, women with CF often had problems becoming pregnant or chose not to because of poor lung function.

“We have seen a ‘baby boom’ since ETI became available. CF is an autosomal recessive disease. Those babies are CF carriers, but will only have a chance to have CF if the father is a carrier,” she said.  

A challenge of longevity is that physicians need to screen for disease processes that were less of an issue before, such as the increased risk of colon cancer in people with CF.  

ETI is not a complete panacea and research continues into treating ongoing problems, Borowitz noted.

“Some people still have challenges with difficult to treat infections or gastrointestinal issues. Some people cannot tolerate ETI and other modulator drugs are being studied, with a new combination drug being reviewed by the FDA this year” she said. “And some people have mutations that make them unable to ever be treated with any modulators. Gene editing, gene therapy or mRNA treatment could help them and all people with CF, but the science is very complex. The CF Foundation is totally committed to ‘a path to a cure’ and progress is being made.”

‘Forever Indebted’ to Clinical Trial Participants

Borowitz said she is forever indebted to all of the people with CF and their families who participated in the over 60 clinical trials in WNY.  

“In addition, our research coordinators, especially Nadine Caci and Chris Roach, have played key roles in explaining the various studies, answering questions, and going out of their way to make participating in a clinical trial as smooth as possible,” she said.

“Personal connection, transparency, commitment, and success in bringing forward things to improve people’s lives are all critical. Despite many challenges, we have had a stable team over many years. Truly caring about the lives of people we serve and caring about each other has enabled successful collaboration.”

Borowitz said she also “truly admires the resilience of people with CF and their families.”

“They have had to commit to following a treatment plan every day. In an odd way, as we developed more drugs to keep people stable and their life expectancy increased, the complexity of the treatment was at odds with people feeling better and wanting to lead a full life.”

An additional burden is that long before COVID-19, infection protection and control policies were in place that limited contact between people with CF because of the risk of transmission of serious lung infections from one person with CF to another.

Continuing to Improve Lives of People with CF

After retiring from UB in 2016, Borowitz joined the CF Foundation as its senior vice president of community partnerships, where she led numerous initiatives to improve patient care and advance new treatments before retiring in 2020.

“My job was to find novel ways for people with CF to connect with each other and to enable their lived experiences to be embedded in the activities of the CF Foundation,” she said. “We were using video connections and holding virtual conferences starting in 2016, and this work continues.”

Even in retirement, Borowitz continues to improve the lives of people with CF.

About 85 percent of people with CF have a pancreas that doesn’t work, and they need to swallow many capsules with digestive enzymes before every meal and snack to prevent malnutrition.

“There have been very few improvements in these enzyme supplements since the 1970s,” she says. “Although modulators can improve pancreatic function in some children, most people with CF still have to take enzyme supplements.

Borowitz is working with a small biotechnology company as a scientific adviser and board member to use what has been learned over the years to create a better enzyme.

Using machine learning, they have engineered a more potent enzyme that could be a single small pill or even a liquid. Phase 1 trials are currently underway.