Enid’s Story: Cystic Fibrosis Clinical Trial Offers Hope
By the time Enid Katz was two years old, she had already suffered through several bouts of bronchitis and was always hungry, though her weight was normal. Her mother approached the pediatrician with the possibility that something was wrong, but the doctor suggested she would likely outgrow her symptoms. However, as Enid experienced several more lung infections, her mom decided to do her own research.
“In the early 1990s, there was no Google,” says Enid, now 34. So, Enid’s mom went to the local library and discovered that her daughter’s repeated infections and constant hunger could be early signs of cystic fibrosis. She insisted that the doctor refer Enid to the cystic fibrosis clinic near her home on Long Island, NY. There, shortly before her third birthday, Enid underwent two sweat tests, which look for elevated levels of sodium and chloride to diagnose cystic fibrosis. Both tests were positive.
Cystic fibrosis is a genetic disorder caused by a defective protein, CFTR, that makes mucus overly thick and sticky. The mucus accumulates in lungs and other organs, leading to lung infections, inability to digest food, diabetes, bone weakness, and infertility in most men. On average, people with cystic fibrosis experience a yearly 1-2% decrease in lung function, and respiratory failure is the cause of death for the majority of patients.
As soon as Enid was diagnosed, she began a course of treatments and medications to open up her airways, prevent infections, and help her maintain weight.
About a month later, Enid’s brother was born. A sweat test performed when he was 10 days old showed that he also had cystic fibrosis, and the siblings began their journey together.
A Special Bond
As the Katz siblings grew up, they formed a special bond over the shared experience of undergoing a slew of daily treatments for cystic fibrosis and frequent clinic visits.
“Friends came by to play and watch TV with the nebulizers running,” Enid remembers. “Overnight class trips required a parent to dole out our medications and help us do the physical therapy.”
Despite this careful routine, Enid’s brother developed a severe lung infection that took his life just after his 21st birthday in 2014. Enid, devastated by this loss and devoted to her brother’s memory, vowed to keep fighting.
Staying Strong
Today, Enid follows a rigorous daily care plan to prevent lung infections and other health problems. Starting as early as 4 a.m., she inhales five different breathing treatments and wears an inflatable vest that uses high-frequency oscillation to help loosen and thin mucus in the lungs. She also takes several pills throughout the day to address nutritional deficiencies caused by blockages in her pancreas and needs insulin to treat her diabetes.
“I have been riding horses since age 11, which gives me a full-body workout and is good for my mental health,” Enid says.
When lung infections do occur, they quickly sap her energy and are increasingly difficult to treat, as many of the microbes colonizing Enid’s lungs have developed antibiotic resistance.
A new class of medications called CFTR modulators, which help the defective protein work better, has become available in the last 12 years. Though these drugs do not provide a cure, they can improve survival and quality of life for up to 90% of patients with certain gene mutations. Unfortunately, Enid does not have any of the mutations that would make her eligible for this treatment.
“A gene therapy could help people with cystic fibrosis who aren’t eligible for treatment with CFTR modulators,” says Claire Keating, MD, Enid’s doctor and co-director of the Gunnar Esiason Adult Cystic Fibrosis Lung Program at Columbia University Vagelos College of Physicians and Surgeons. The multidisciplinary program is part of a network that participates in cystic fibrosis clinical trials, giving patients the chance to test potential breakthrough treatments, including inhaled gene therapies. Columbia is currently participating in several cystic fibrosis drug trials, including another gene therapy trial.
“Columbia has an engaged cystic fibrosis patient population and the infrastructure needed to conduct these complex trials,” says Emily DiMango, MD, co-director of the Gunnar Esiason Adult Cystic Fibrosis and Lung Program. “For patients, participation in clinical trials can provide early access to potentially life-altering treatments.”
Expanding Treatment Options
Recently, Enid became the first patient to receive an experimental gene therapy developed by Spirovant Sciences through a clinical trial at Columbia. Inhaled via a nebulizer, the therapy delivers a functional copy of the CFTR gene, encased in a deactivated adeno-associated virus, to airway cells. When the healthy CFTR gene reaches the airway cells, it triggers the production of normal CFTR protein in the lung without altering the genome itself.
The 53-week trial will determine if the therapy is safe and how long it remains in the lung. If successful, additional trials will be needed to study its efficacy and determine how often a patient needs to be treated, since old lung cells are eventually replaced with new ones.
For Enid, uncertainty about the potential benefit of this therapy has not deterred her from enrolling in the trial; she considers the study part of the fight she’s been keeping up every day for both her brother and herself.
“It feels pretty awesome to be part of this historic trial, and I’m honored to be the first patient to try the therapy,” Enid says. “I know my brother is watching over me with a big grin as if to say: 'Cool!'”