Medical Moment: Gene therapy for cystic fibrosis

Published: Feb. 23, 2023 at 5:59 PM EST
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(WNDU) - 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, but not for 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 cystic fibrosis, the lungs fill with thick mucus, making it tough to get air. Mucus also clogs the pancreas and intestines.

Cystic fibrosis doctor Marie Egan 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.

“We include a small piece of DNA or blueprint that has the right instructions,” Dr. Egan explained. “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.

“I think it’s imperative that we move forward, and not just for CF, but for all genetic disorders,” Dr. Egan said.

The U.S. Food and Drug Administration has approved Trikafta, the first triple combination therapy available to treat patients with the most common cystic fibrosis F508del mutation in the CFTR gene, which is estimated to represent 90% of the cystic fibrosis population.

Patients with cystic fibrosis should speak with a healthcare 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.