The short statement meant nothing to most people, but for a relatively small segment of the population, the words carry the same weight as it would for a death-row inmate granted a hearing that may lead to executive clemency.
Even more exciting, the Feb. 27 announcement stated the U. S. Food and Drug Administration assigned the “Breakthrough Therapy Designation” to the VX-809 and Kalydeco combination. The designation allowed the pharmaceutical company to move forward with a six-month trial, which is about half the time typically required.
CF is the abbreviation for cystic fibrosis, an inherited chronic disease that affects the lungs and digestive system of about 30,000 children and adults in the United States and 70,000 worldwide.
The new trials come a little more than a year after FDA approval of Kalydeco. Kalydeco was developed for 4 percent of the CF population with the G551D mutation of cystic fibrosis. In people with this mutation, a defective protein moves to its proper place at the surface of the cell but does not function correctly. Instead, the defective protein acts like a locked gate, preventing the proper flow of salt and fluid in and out of the cell.
Dr. Jerome and Vanessa Hammond suffered through the anxiety of waiting on the results of Kalydeco that came in January 2012. Their son, Will, was one of the 4 percent with the G551D mutation and so far, all signs of cystic fibrosis have disappeared since he began taking the drug.
“Now they are testing another medication for everybody else that hopefully will have the same results in that it will correct the cell function and they will no longer have the symptoms and problems associated with CF,” Vanessa said. “For new patients who haven’t sustained lung damage yet, then it’s just like taking medication and as long as they’re taking that medication, that child will not suffer the affects of cystic fibrosis.”
The study will focus on Kalydeco in combination with VX-809, a CF drug in development. The combined therapies are designed to treat the underlying cause of cystic fibrosis.
The six-month studies will examine the combination treatment in people ages 12 and older who have two copies of the Delta F508 mutation of CF, the most common mutation in cystic fibrosis. About 50 percent of people with CF in the United States have two copies of the Delta F508 mutation.
The studies will be conducted at approximately 200 clinical trial sites in North America, Europe and Australia. In total, about 1,000 patients will be enrolled across the two studies, which will test two different doses.
Cystic fibrosis is an inherited chronic disease that affects the lungs and digestive system. A defective gene and its protein product cause the body to produce unusually thick, sticky mucus that clogs the lungs and leads to life-threatening lung infections; and obstructs the pancreas and stops natural enzymes from helping the body break down and absorb food.
In the 1950s, few children with cystic fibrosis lived to attend elementary school. Today, advances in research and medical treatments have further enhanced and extended life for children and adults with CF. Many people with the disease can now expect to live into their 30s, 40s and beyond, according to information at www.cff.org.
Vanessa said if research efforts are supported, then she is hopeful of finding an effective treatment — it’s not a cure because they still have to take medicine.
“The whole weight is lifted. The whole reality has changed for Will — the whole reality. You don’t know what the future holds with or without cystic fibrosis, but the reality now for Will is very different than it was a year ago in terms of CF and how it affects his life,” she said.
Jerome likens Kalydeco to the polio vaccine announced to the world by Dr. Jonas Salk on April 12, 1955 that lifted a dark shadow of fear. Because of the vaccine, he never for an instant has worried about their four children contracting polio.
“With the polio vaccine, that shadow of fear was gone forever,” he said. “In a very similar way for a much, much smaller segment of the population, it’s exactly the same. It was this specter. This thing that was in the room all the time about what will this mean? That’s why any bacteria or anything new like that was fearful because of what it compounds in the CF patient — but suddenly, in a way that’s very difficult to describe — overnight that’s gone.
“What Vanessa and I are saying, is we want everyone to have that experience of feeling that ghost leaving the room,” he concluded.
That same miracle their family was given is now in reach for everyone else and until then, the Hammond family will continue supporting the Cystic Fibrosis Foundation through Great Strides.
“It’s because of all the parents and other people who cared for the last 25 years that we’ve gotten to this point, and for parents who did not have a chance to celebrate the health of their children. Yet many of them were just really passionate about this, raised funds and still do,” Vanessa said.
There is no way to describe what Kalydeco means, especially to the Hammond and Conn families, but also to extended families, friends and anyone else who has a compassionate heart.
“Think of all the people, all the talent that stayed focused on this problem and are still focused on it,” he said. “It’s an amazing story of — and I hate to sound so cornball — but it is an amazing story of what we can do together when all of these little towns and all of these organizations raise money. It’s like all of these small tributaries coming together and we have this river of support that turns into an ocean of support with the scientists, laboratories and companies and the moms and dads.”
Vanessa said the annual Great Strides walk and road race provides encouragement and support for families and individuals who have CF.
The Great Strides walk and 65 Roses 5K road race are April 13, on the Lee University campus. Registration begins at 7 a.m. in front of the Lee University Student Union. The 5K road race follows at 8:30 a.m., and the walk at 10 a.m. The route commences on the Lee campus and goes through downtown Cleveland and the historic Ocoee Street area. Additional information and online registration are available at the local event website at www.leeuniversity.edu/greatstrides, or by contacting Cleveland walk coordinator Rosie Adams in the Office of Student Development at 423-614-8406.
“When people who come out who are not particularly affected by CF, it really provides something that is public and affirming for those individuals and families with a disease that most people don’t know anything about,” Vanessa said. “I love seeing that.”