A baby with a rare genetic condition was cured before he was born

THE IMPORTANT

  • One in 40,000 children is affected by Pompe disease.
  • Ayla, a Canadian woman, was the first to receive in-utero treatment for Pompe disease.

This is the first world. In a hospital in Ottawa (Canada), in 2021, Ayla, a little Canadian girl, received in-utero treatment following a diagnosis of Pompe disease. This rare genetic condition weakens the body’s muscles, especially the heart and skeleton.

An enzyme deficiency at the origin of Pompe disease

“People with Pompe disease lack an enzyme called acid alfa-glucosidase, which breaks down glycogen, a complex sugar, so it can be used for energy. When too much glycogen accumulates in muscle cells, the it breaks down and the muscles lose their function. The disease is rare. It affects one in 40,000 births”, we can read in a press release from the Ottawa hospital. If left untreated, children affected by this disease will die within their first year of life. They must follow enzyme replacement therapy for life.

Zahid Bashir and Sobia Qureshi, Ayla’s parents, both have the recessive gene for Pompe disease. Therefore there is a one in four chance that their child will inherit the disease. Before Ayla, the couple had Hamza, 13, and Maha, 5, but unfortunately they lost two little girls, Zara and Sara, to pathology. At the end of 2020, Sobia Qureshi became pregnant again, but her baby was also affected by Pompe disease.

After receiving the diagnosis, the parents were referred to Dr. Karen Fung-Kee-Fung, specialist in maternal-fetal medicine at the Ottawa Hospital in Ontario (Canada). At the same time, a clinical trial on enzyme replacement therapy administered before pregnancy will begin in San Francisco (United States). This approach relies on the administration of an artificially produced enzyme to replace the missing enzyme. “This early intervention will hopefully limit the damage caused by the disease and prevent vulnerable newborns from having a potentially serious immune reaction to the drug.”say the scientists.

Enzyme replacement therapy: six sessions of therapy before delivery

For the purposes of the clinical trial, Sobia Qureshi had to travel to California every two weeks to follow six sessions of prenatal therapy, but the restrictions related to Covid-19 and the fact that she already had children became impossible to travel. Doctor Karen Fung-Kee-Fung and her team agreed with researchers from the University of San Francisco to carry out the treatment at the Ottawa hospital. The specialist administered six therapy sessions to the mother-to-be with Dr. Felipe Moretti, head of the facility’s maternal-fetal medicine division.

“The University of San Francisco and Duke University provided the new science that underlies this therapeutic approach. In Ottawa, we had the experience and the team to seize this opportunity and provide Ayla with this life-saving treatment. “underscored Doctor Karen Fung-Kee-Fung who also delivered a baby.

Ayla celebrated her first birthday in June 2022. Her heart and body are developing and functioning normally. The girl who is now on enzyme replacement therapy is very energetic and very active. “The new thing she learned is to climb on our sofas (…) I don’t think I have to watch over any of my children like we have to watch over Ayla”said Sobia Qureshi. Before adding: “But, nWe don’t know what the next five, ten or twenty years will look like. Hopefully this trend will continue and do wonders.”


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