After receiving therapy for a rare genetic illness, a toddler girl is thriving. She received the treatment before she was even born, which is a first for this illness.
Ayla, who is 16 months old, has infantile-onset Pompe syndrome, a hereditary condition that can result in organ damage that starts before birth. A baby with Pompe has a larger heart and weaker muscles at birth. Most infants die before they turn two if untreated. However, this approach does not stop the permanent and potentially fatal organ damage that occurs in utero. Instead, treatment often starts after birth.
As part of a clinical trial that was in its early stages, Ayla got treatment while still in the womb. The toddler is completing developmental milestones, including walking, and has a healthy heart. Her success is evidence that the condition can be treated during pregnancy to prevent organ damage and prolong the lives of unborn children, according to a study published on November 9 in the New England Journal of Medicine.
Bill Peranteau, a pediatric and fetal surgeon at the Children’s Hospital of Philadelphia who wasn’t involved in the work, says, “It’s a tremendous step forward.”
Infantile-onset Less than 1 in every 138,000 newborns born worldwide has Pompe disease, an uncommon disorder. It is brought on by genetic alterations that either lower the acid alpha-glucosidase (GAA) enzyme levels or stop the body from producing it.
GAA converts the complex sugar glycogen into glucose, the body’s primary energy source, inside cellular organelles known as lysosomes. Glycogen builds up to dangerously high amounts without GAA, which can harm muscular tissue, including the heart and the muscles that aid in breathing.
Ayla was diagnosed with the most severe form of Pompe illness, while other people can develop it later in life or have a less severe version that doesn’t expand the heart. She doesn’t produce any GAA in her body. If treatment begins soon after birth, replacing the missing enzyme with an infusion can help prevent glycogen accumulation (SN: 4/26/04).
Early research in mice revealed that prevention of a Pompe-like disease might be accomplished by medication. So pediatric geneticist Jennifer L. Cohen of Duke University School of Medicine and associates began a preliminary clinical trial involving Pompe and seven other lysosomal storage diseases that are comparable to Pompe.
When her mother was 24 weeks pregnant, the team began treating Ayla by injecting GAA through the umbilical vein. Six injections were given to her mother overall, one every two weeks. Ayla has been receiving weekly infusions since birth, and the medical staff will continue to provide treatment for the rest of her life.
Cohen claims that the therapy was risk-free for both mother and kid. But it’s not known whether this prenatal enzyme replacement is always a safe and beneficial alternative until more people are treated and evaluated in the experiment. The trial has treated two additional patients with different lysosomal storage diseases thus far, but it is too early to tell how they are doing.
Additionally, in-utero treatments for other uncommon genetic illnesses, such as the blood condition alpha thalassemia, are being investigated by researchers. And in 2018, researchers reported on three kids who had successfully undergone prenatal treatment for a sweating problem.
According to Peranteau, such methods may one day be used to treat other rare disorders. But before attempting any newly created medicines in pregnancy, it will be crucial to demonstrate that they are safe and effective when administered after delivery.
According to Cohen, how Ayla and other treated patients will fare in the long run is yet unknown. “We are cautiously optimistic, but we want to exercise caution and keep an eye on the patient for the duration of their life. I believe that the next five years, in particular, will be crucial in determining how she does.
