An new study published March 27, 2019, in Science Translational Medicine has shown that treating cystic fibrosis (that genetic condition portrayed by Cole Sprouse in the film “Five Feet Apart”) before birth can prevent life-threatening complications of the genetic condition, including lung damage, damage to the pancreas, and even male infertility. Currently, it’s estimated that only two percent of men with cystic fibrosis can have children naturally, and they often turn to IVF to conceive.
New medications have been created in recent years that work to target cystic fibrosis at the cell, rather than treating just the symptoms. Currently, there is a 50/50 chance children born today with the condition will live to age 41. These new medications, however, have provided hope for a normal life span for children born today. Yet, not all of the new drugs are available to all patients, especially small children, due to the wide variety of cystic fibrosis mutations, and the lack of safety testing on that age group. But now, researchers have used one of the new medications in animal testing, and it is showing promise for babies with cystic fibrosis in the womb.
The first of these new medications to be approved by the FDA is called Ivacaftor, and is available to people who have the G551D mutation. About 30,000 people in the United States, and 70,000 worldwide, have cystic fibrosis. Only about five percent carry the G551D mutation. Ivacaftor can help people with this particular mutation to reduce lung infections and gain weight. While it is only currently used in patients over age one, researchers hope that eventually it can be taken by women pregnant with a child with cystic fibrosis.
Researchers used ferret embryos with two copies of the cystic fibrosis G551D mutation, and gave the drug to the pregnant mothers. They continued to treat the baby ferrets after they were born. Administering the medication before birth addressed many issues caused by cystic fibrosis — it prevented male infertility, eliminated pancreas problems, and prevented lung disease. When the researchers ceased administering the medication to the born baby ferrets, their pancreases began to fail and lung infections began to occur.
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Other medications focus on helping about 90 percent of people with cystic fibrosis who carry the most common mutation – DF508. Cystic fibrosis researcher Thomas Ferkol of Washing University School of Medicine in St. Louis believes that these medications also have the potential to prevent the symptoms of cystic fibrosis if administered before birth as well.
While further studies are needed in humans in order to prove this theory and ensure safety, the results of the animal studies are promising and offer hope, especially for those who learn of their child’s condition during pregnancy. Children with cystic fibrosis are often targeted for abortion, with one study showing that nearly 30 percent of women would consider aborting a child because of it. Kaiser Permanente in California revealed that between 2006 and 2008, of the 87 pregnant women who underwent prenatal testing, 23 of the babies tested positive for the condition. Five of the babies were aborted. Other parents have sued for wrongful birth of their child with the condition, despite the fact that these new treatments exist to help them live longer and healthier lives.
Being able to treat this life-threatening, chronic condition while still in the womb will not only save lives, but allow future men with the condition to have their own children naturally without having to resort to IVF.
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