Doctors Treat a Rare Genetic Condition Before Patient Is Born

Thanks to continued weekly medications, a 16-month-old girl shows no symptoms of a severe genetic disease that typically kills children before they turn two.

Written byDan Robitzski

| 2 min read

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An excited-looking toddler crawls towards toys while her mother watches on.

Ayla, shown here playing with her mother, received an experimental treatment for the deadly genetic condition Pompe disease before she was born.

Image credit:ANDRE CHOUTU / CHEO

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In a medical first, an infant was successfully treated for a rare, fatal genetic disease before she was born, via therapeutic enzymes injected into her umbilical cord.

The girl, now 16 months old and symptom-free, according to a case study published yesterday (November 9) in The New England Journal of Medicine, has a severe form of a rare genetic condition called infantile-onset Pompe disease. People with this disease produce too little or no acid alpha-glucosidase (GAA), an enzyme that allows lysosomes to break glycogen down into usable glucose. Without GAA, glycogen deposits build up, causing irreversible, progressive damage to the heart and other muscles.

If the condition is left untreated, children with the most severe form of the disease (which affects fewer than one in 100,000 babies, according to STAT News) accumulate this damage before they’re even born, and rarely live to see their second birthdays.

The only existing treatment ...

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Meet the Author

Dan Robitzski
Dan is an award-winning journalist based in Los Angeles who joined The Scientist as a reporter and editor in 2021. Ironically, Dan’s undergraduate degree and brief career in neuroscience inspired him to write about research rather than conduct it, culminating in him earning a master’s degree in science journalism from New York University in 2017. In 2018, an Undark feature Dan and colleagues began at NYU on a questionable drug approval decision at the FDA won first place in the student category of the Association of Health Care Journalists' Awards for Excellence in Health Care Journalism. Now, Dan writes and edits stories on all aspects of the life sciences for the online news desk, and he oversees the “The Literature” and “Modus Operandi” sections of the monthly TS Digest and quarterly print magazine. Read more of his work at danrobitzski.com.
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