Children’s Hospital Colorado Helps Lead Research to Determine First Successful Treatment of the Underlying Causes of Cystic Fibrosis


FDA approves Kalydeco to treat rare form of cystic fibrosis

Children’s Hospital Colorado, host of one of the largest cystic fibrosis (CF) centers in the country, helped lead a major break through in the treatment of CF. Kalydeco, the first drug that treats the underlying causes of CF, recently gained approval from the U.S. Food and Drug Administration. Children’s Colorado participated in early research and drug trials for Kalydeco. The drug is approved for the treatment of a rare form of CF in patients six years and older who have the specific G551D mutation in the Cystic Fibrosis Transmembrane Regulator (CFTR) gene.

“This is a major breakthrough in the treatment of cystic fibrosis,” said Frank Accurso, MD, pulmonary section head, medical director of the core laboratory at Children’s Colorado Clinical Translational Research Center, and U.S. principal investigator for the initial Kalydeco research trial. “This is a breakthrough therapy for the CF community because current therapies only treat the symptoms of this genetic disease.

“Kalydeco is the first available treatment that targets the defective protein, which is the underlying cause of CF,” continued Accurso.

A team of researchers from our hospital

Dr. Accurso’s research team at Children’s Colorado led phase two of the Kalydeco trial. The hospital’s sweat testing lab performed analyses on sweat samples from patients all over North America in order to determine the effect of the drug and its activity on the protein. The research performed on the Anschutz Medical Campus proved the drug was working.

Due to abnormalities in the protein CFTR, CF sufferers cannot normally clear their airways of mucus when they acquire an infection. This leads to breathing challenges, prolongs the infection and results in serious illness. When first defined in 1938, children with CF seldom lived beyond infancy, as they had no medication or treatment.

Improved outlook and life expectancy for CF patients

Since 1980 median life expectancy has increased from 18 to 37 years, thanks to the advent of inhaled antibiotics, mucus-thinning medication, newborn screening and early diagnosis, and the development of specialized CF centers – like the one at Children’s Colorado.

Even though only four percent of CF patients stand to benefit from this new FDA-approved medication, Dr. Accurso says the next round of clinical trials will involve this drug plus other medications to find the right combination for treating the vast majority of CF patients.

CF, which affects about 30,000 people in the U.S., is the most common fatal genetic disease in the Caucasian population. About 4 percent of those with CF, or roughly 1,200 people, are believed to have the G551D mutation.

On a daily basis, a CF sufferer may take up to 15 pills and invest at least one hour for secretion clearance; patients with severe CF may ingest up to 60 pills and undergo two and a half hours of secretion clearance treatment.

About the drug: Kalydeco

“Kalydeco is an excellent example of the promise of personalized medicine – targeted drugs that treat patients with a specific genetic makeup,” said FDA Commissioner Margaret A. Hamburg, MD.

Two 48-week, placebo-controlled clinical studies involving 213 patients, one in patients ages 12 years and older and another in patients ages 6 years to 11 years, were used to evaluate the safety and efficacy of Kalydeco in CF patients with the G551D mutation. In both studies, treatment with Kalydeco resulted in significant and sustained improvement in lung function.

The development of Kalydeco resulted from a partnership between Vertex Pharmaceuticals Inc. and the Cystic Fibrosis Foundation.

About Children’s Hospital Colorado Cystic Fibrosis Research and Care Center

Established in 1990 and accredited by the Cystic Fibrosis Foundation, Children’s Colorado houses one of the premiere CF centers in the country. The Mike McMorris Cystic Fibrosis Research and Care Center delivers state-of-the-art care to CF patients, provides education for healthcare professionals and families with CF, and advances the field through clinical research.

Dr. Accurso helped institute nation-wide CF newborn screening, which significantly advanced diagnosis and treatment. 2009 marked the completion of a national effort in newborn screening. According to the Cystic Fibrosis Foundation, Colorado was the first state to adopt the policy in 1982; the last state implemented it in 2009.

The Breathing Institute at Children’s Hospital Colorado, ranked the No. 4 children’s hospital for pulmonology care by U.S. News and World Report, is widely recognized as one of the world’s premier programs for treating children with breathing and sleep disorders. The Institute is known for its clinical and research leadership roles in caring for children with conditions including cystic fibrosis, pulmonary hypertension and rare lung diseases.