NEW HAVEN, Conn. (Ivanhoe Newswire) – Cystic fibrosis is an inherited disease that affects the lungs, the pancreas, and other organs. There is no cure. New medications have come a long way to improve the symptoms for many patients, but not everyone. Now, researchers at Yale University are studying a therapy that could correct the condition before symptoms start.
Deep breaths in and out, something many of us take for granted. But for people with CF, the lungs fill with thick mucus, making it tough to get air. Mucus also clogs the pancreas and intestines.
Pediatric pulmonologist at Yale Medicine, Marie Egan, MD is studying ways to help the body repair the mutated DNA that causes the condition.
Dr. Egan and her Yale colleagues developed a new gene editing technique that targets a mutation in the CFTR gene. They’ve designed small molecules that can be delivered into the body intravenously.
Dr. Egan explains, “We include a small piece of DNA or blueprint that has the right instructions. Your own body can fix itself.”
Dr. Egan says the molecules would be administered as a one-time therapy and could be a delivery method and treatment for other conditions.
Scientists tested the technique in the lab and found that it worked not only in the lungs, but other organs that are affected by CF. The researchers say the technique needs to be tested in humans, but they suspect it could be successfully administered at any stage of life, not just in babies, but right after the condition is diagnosed. Cystic fibrosis is one of the conditions most states screen for during newborn testing.
Contributors to this news report include: Cyndy McGrath, Producer; Kirk Manson, Videographer; Roque Correa, Editor.
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Sources:
https://www.cff.org/intro-cf/about-cystic-fibrosis
MEDICAL BREAKTHROUGHS
RESEARCH SUMMARY
TOPIC: GENE THERAPY FOR CYSTIC FIBROSIS
REPORT: MB #5176
BACKGROUND: Cystic fibrosis (CF) is a genetic disorder that causes problems with breathing and digestion. CF affects about 35,000 people in the United States. People with CF have mucus that is too thick and sticky, which blocks airways and leads to lung damage, traps germs and makes infections more likely, and prevents proteins needed for digestion from reaching the intestines, which decreases the body’s ability to absorb nutrients from food. There are close to 40,000 children and adults living with CF in the United States (and an estimated 105,000 people have been diagnosed with CF across 94 countries), and CF can affect people of every racial and ethnic group.
DIAGNOSING: There is a wide range of severity in CF symptoms. Even within the same family, siblings can have different disease severity. Symptoms of CF can be classified into two main categories: respiratory and digestive. The most common symptoms of CF respiratory tract disease are: chronic coughing, recurring chest colds, wheezing or shortness of breath, frequent sinus infections, and/or very salty-tasting skin. Cystic fibrosis can be diagnosed with newborn screening, genetic testing, sweat test, and measuring nasal lining.
(Source: https://www.lung.org/lung-health-diseases/lung-disease-lookup/cystic-fibrosis/symptoms-diagnosis)
NEW TECHNOLOGY: The U.S. Food and Drug Administration has approved Trikafta (elexacaftor/ivacaftor/tezacaftor), the first triple combination therapy available to treat patients with the most common cystic fibrosis mutation. Trikafta is approved for patients 12 years and older with cystic fibrosis who have at least one F508del mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, which is estimated to represent 90% of the cystic fibrosis population. Patients with cystic fibrosis should speak with a health care professional and have tests performed to understand which gene mutations they have. The presence of at least one F508del mutation should be confirmed using an FDA-cleared genotyping assay prior to treatment. The safety and effectiveness of Trikafta in patients with cystic fibrosis younger than 12 years of age have not been established.
FOR MORE INFORMATION ON THIS REPORT, PLEASE CONTACT:
Colleen Moriarty
(203) 376-4237
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