A new treatment for a fetus with a devastating genetic disease has resulted in the baby being born healthy and prosperous, according to a recent case study.
Ayla, 16 months, survived the rare genetic condition, infantile Pompe disease, unlike her siblings with the same deadly condition.
Pompe disease is one of the childhood diseases that can cause severe damage to vital organs, such as the heart, before birth, giving little chance of survival.
According to the University of Ottawa study in collaboration with UC San Francisco and Duke University, presented Wednesday in the New England Journal of Medicine, the treatment consisted for the first time in the replacement of enzymes during fetal development.
After six prenatal treatments performed at the Ottawa hospital, the baby was born to term and continued postnatal enzyme therapy, while her cardiac and motor functions are completely normal.
Before fetal treatment, babies born with Pompe disease usually have an enlarged heart and are at risk of dying within two years if not treated.
“As new treatments become available for children with genetic diseases, we are developing protocols to implement them before birth,” said Dr. Tippi MacKenzie, co-director and corresponding author at UCSF Benioff Children’s Hospitals.
“This treatment is very promising and I am very happy for Ayla and her family,” commented Dr. Chakraborty, a researcher at the CHEO Research Institute and an associate professor at the University of Ottawa.
“Seeing how Ayla is doing, it is important to continue clinical trials to determine whether this type of fetal treatment will be a good option for other families when the treatment given when the baby is a newborn is not early enough,” he added. .
