A toddler is thriving after doctors in the U.S. and Canada used a novel technique to treat her before she was born for a rare genetic disease that caused the deaths of two of her sisters, says Health writer, Jonel Alecciaap.
Ayla Bashir, a 16-month-old from Ottawa, Ontario, is the first child treated as fetus for Pompe disease. After six prenatal enzyme replacement treatments at The Ottawa Hospital, Ayla, was born at term. She is receiving postnatal enzyme therapy at CHEO (a pediatric hospital and research center in Ottawa, Canada), and doing well at 16 months of age. She has normal cardiac and motor function and is meeting developmental milestones.
Experts at Duke Health were among the multi-national team involved in treating a fetus for infantile-onset Pompe disease using an enzyme replacement therapy - a first in the world.
Duke has played a pivotal role in many advances in the field of Pompe disease, including developing alglucosidase alfa as the first Food and Drug Administration-approved enzyme replacement therapy (ERT) for Pompe disease, identifying the role of high and sustained antibody titers to the ERT, using biomarkers to follow treatment response, and establishing immune tolerance induction protocols for the most severe patients, noted Priya Kishnani, MD, co-senior author, division chief of Medical Genetics at Duke University School of Medicine.
“All of these advances were crucial to this particular patient’s treatment and response,” said Kishnani. “The intrauterine therapy represents a new frontier for patients with Pompe disease.”
Newborn screening can lead to early initiation of treatment with recombinant enzymes, "but this strategy does not completely prevent irreversible organ damage," the authors said.
"From our long-standing work at Duke treating patients with Pompe disease, we know first-hand the critical importance of earlier initiation of treatment. Our ability to offer a new treatment opportunity to this family and potentially change the course of this difficult disease has made this collaboration and project groundbreaking."
Jennifer Cohen, M.D., co-first author of the NEJM paper
You can read more about the promising news in these online articles:
In a first, doctors treat fatal genetic disease before birth - ABC News (go.com)
Rare, deadly genetic disease successfully tre | EurekAlert!
In a first, doctors treat fatal genetic disease before birth - CentralMaine.com