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Duke experts part of first-ever team to use enzyme replacement to treat Pompe disease in fetus

Duke experts were part of a team that was the first to ever provide enzyme replacement therapy to a fetus to treat infantile-onset Pompe disease. While untreated infantile-onset Pompe disease patients rarely live past their first year of life, now-17-month-old patient, Ayla Bashir, is eating, drinking and living normally after having received the treatment.

The team included researchers from Duke, the University of California, San Francisco, and Ottawa Hospital. 

Priya Kishnani, Chen family distinguished professor of pediatrics and chief of the division of medical genetics, said she was “involved right from the beginning, when the start of the clinical translation occurred, and when the first three babies were treated in the world with this enzyme therapy, [Myzozyme].” 

Myozyme was developed at Duke and is the only FDA-approved enzyme therapy for treating infantile Pompe disease. 

An intrauterine approach

The intrauterine approach involves treating a patient for Pompe disease prior to birth. The disease causes build-up of glycogen in the body’s cells and leads to major organ damage, even in the womb. Once born, infants show muscle weakness, heart problems and breathing issues. 

The Bashir family had two children who passed away from Pompe’s disease before Ayla was born. By taking an intrauterine approach, the experts hoped earlier initiation of treatment would lead to better outcomes. 

Ayla was administered with six enzyme replacement treatments as a fetus through the umbilical cord, and began receiving the standard therapy for Pompe patients after birth.  

“It was really very gratifying to see how well we all worked together,” Kishnani said. “The biochemical genetics laboratory at Duke did really cutting edge work on the biomarkers. Our pathologist, Dr. Kyle Strickland, was able to look at the placenta of this baby as well as the placenta from other babies with Pompe, who had not received intrauterine treatment, and do the comparison.” 

Kishnani also recognized the efforts of Pranesh Chakraborty, the Bashir family’s treating physician, Jennifer Cohen, assistant professor of the department of pediatrics, and the team in Canada, who looked after the baby and told Kishnani how things were going.

Impact on future research

The success of the intrauterine approach translates to various impacts on medical research at large. Being able to treat Pompe from the intrauterine level gives both doctors and patients the unique advantage of combating this disease at an earlier stage.

“In a rare disease space, every patient is teaching us something. So if you listen carefully, you will definitely learn a new aspect of the disease, which then can help you impact how you try and treat the disease,” Kishnani said.

Kishnani further found it important that their work was done at the in-utero level first, as trials are usually done in adults first and then trickle down to pediatrics. 

“The work was done in the most severe end of the spectrum, and we were able to get broad label approval,” Kishnani said.

Kishnani and her team have also pushed to make Pompe a part of the recommended screening panel for newborn babies. She noted that with rare diseases like Pompe, many patients are not diagnosed.

“In a rare disease space, without the therapy, you don't even know who the patients are, because many of them are not diagnosed,” Kishnani said. “And so we have collaborated across campus at Duke as well as, I would say, across the world, to get a better understanding of this rare disease.”

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