Girl Treated for a Disease While Still in the Womb

You can’t be treated for a disease before you are born right? Or wait, can you? It turns out that you actually can. Sixteen - month - old Ayla has a rare genetic disease called infantile-onset Pompe disease. This disease can cause organ damage that begins before birth. Babies with this disorder typically have large hearts and weak muscles. If this disease is left untreated, children often die before the age of two. Treatment typically starts after birth, but this often does not prevent irreversible organ damage, which may lead to death.

However, Ayla was treated before birth as part of a clinical trial and is currently doing well, she has a healthy heart and is meeting developmental milestones. So how specifically does this treatment work? Infantile- onset Pompe disease causes genetic changes that either reduce or completely prevent the body from making an enzyme called GAA. Inside cellular structures called lysosomes, GAA helps to convert the complex sugar glycogen into glucose. Without GAA, glycogen accumulates to dangerously high levels, causing damage to muscle tissue including the heart and muscles that help people breathe.

While some people can develop the disease later in life or have a less severe form that does not enlarge the heart, Ayla was born with the most severe form, and her body does not make any GAA. The enzyme can be replaced through an infusion, which can help to prevent glycogen build up. Ayla’s mother started receiving the infusion when she was 24 weeks pregnant and received a total of six infusions. After Ayla was born, she continued to receive weekly infusions and will need to receive treatment throughout her life.

This therapy was safe for both Ayla and her mother, but until more patients are treated and monitored in the trial, it is impossible to know whether prenatal enzyme - replacement is always a safe and effective option. Regardless, this treatment is a great step forward in the way in which we treat diseases, and it means that we can be hopeful that in the future, scientists will continue to find new ways to treat rare and possibly life-threatening conditions.