Newly approved cystic fibrosis treatment offers promise – Midland Daily News

Omar P. Haqqani, for the Daily News

Newly approved cystic fibrosis treatment offers promise

On October 21, the U.S. Food and Drug Administration (FDA) approved a new therapy that could improve the lives of thousands of people living with cystic fibrosis (CF). The first triple combination therapy has been made available to treat patients with the most common cystic fibrosis mutation. Trikafta is approved for patients twelve years and older with cystic fibrosis that have at least one F508del mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. There are approximately 2,000 known mutations of the CFTR gene, but the most common mutation is the F508del mutation. It is estimated to represent 90% of the cystic fibrosis population. Trikafta is very effective on this mutation. The Cystic Fibrosis Foundation (CFF) calls it, "the single greatest therapeutic advancement in the history of CF."

What is cystic fibrosis?

Cystic fibrosis mutations prevent CFTR proteins to become functional and that prevents the movement of chloride to the cell surface in the body. Chloride is an element of salt and when its movement is hindered, mucus in various organs becomes thick and sticky. The improperly developed mucus causes germs and bacteria to remain in the lungs. This results in infection, inflammation and other complications, including respiratory failure.

CF also presents a danger in the pancreas. The mucus causes digestive enzymes not to function properly, resulting in malnutrition and poor growth, due to the prevention of the release of digestive enzymes. Mucus can also cause liver disease by blocking the bile duct. It may also alter the ability for men to father children.

In the U.S., more than 30,000 people are living with cystic fibrosis and more than 70,000 are diagnosed worldwide. More than 50% of them are age 18 or older.

Symptoms of cystic fibrosis

Symptoms of CF appear in proportion to damage to particular organs. The most common and noticeable symptoms occur when the lungs become damaged. Lung infections such as pneumonia and bronchitis, along with wheezing, or shortness of breath are frequent symptoms. Additionally, persistent coughing may occur and often produce phlegm.

When CF affects other organs, symptoms may include salty tasting skin, poor weight gain, despite a good appetite, and infertility. Other symptoms may be bulky stools or problems with bowel movement.

Diagnosis and treatment

CF is a genetic disease. 75% of cases are diagnosed before a child is two years old. As with the symptoms, treatment is focused on the organs exhibiting the most impact from the mutation. In looking at specific symptoms, a physician may prescribe airway clearance, pancreatic enzyme supplements and individualized physical fitness programs. These therapies have often proven effective.

Nasal inhalers that include antibiotics to keep nasal passages clear are used in airway clearance therapy. To improve the absorption of various nutrients, pancreatic enzyme supplement capsules may be prescribed, along with multivitamins.

The available therapies that target the defective protein are treatment options for some patients with cystic fibrosis, but many patients have mutations that are ineligible for treatment. The new therapy is a combination of three drugs that target the defective CFTR protein. It helps the protein made by the CFTR gene mutation function more effectively.

The prescribing information for Trikafta includes warnings related to elevated liver function tests (transaminases and bilirubin), the use at the same time with other products that are inducers or inhibitors of another liver enzyme called Cytochrome P450 3A4 (CYP3A), and the risk of cataracts. Patients and their caregivers should speak with a health care professional about these risks and any medicines they take before starting treatment.

Patients with cystic fibrosis should also speak with their physicians about having tests performed to understand which gene mutations they have.

To learn more about cystic fibrosis, its symptoms and treatment, log on to vascularhealthclinics.org.

Ask Dr. Haqqani

If you have questions about your cardiovascular health, including heart, blood pressure, stroke lifestyle and other issues, we want to answer them. Please submit your questions to Dr. Haqqani by e-mail at questions@vascularhealthclinics.org.

Dr. Omar P. Haqqani is the chief of Vascular and Endovascular Surgery at Vascular Health Clinics in Midland: http://www.vascularhealthclinics.org

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Newly approved cystic fibrosis treatment offers promise - Midland Daily News