Researchers at UCSF and physicians in Ottawa decided to try treating the disease earlier than birth itself, infusing the missing enzyme directly into the fetus through the umbilical vein while the mother was still pregnant.
Starting at 24 weeks of gestation, the team gave the fetus six infusions of alglucosidase alfa, the standard Pompe enzyme, under ultrasound guidance before the baby was even delivered. The child was born in June 2021 showing none of the heart damage that had affected her older siblings.
The child was reported healthy and developing normally more than a year later, continuing postnatal enzyme therapy to manage the disease long term. The approach is still a single case, not a trial, and whether fetal treatment can help every form of the disease, or carries risks of its own, is now being tested in a small follow-up study.
Read the original study
Cohen et al., New England Journal of Medicine, 2022 · doi.org/10.1056/NEJMoa2200587
Treatment began before her first breath.
Source
- Cohen, J. L., Chakraborty, P., Fung-Kee-Fung, K., Schwab, M. E., Bali, D., Young, S. P., Gelb, M. H., Khaledi, H., DiBattista, A., Smallshaw, S., Moretti, F., Wong, D., Lacroix, C., El Demellawy, D., Strickland, K. C., Lougheed, J., Moon-Grady, A., Lianoglou, B. R., Harmatz, P., . . . MacKenzie, T. C. (2022). In Utero Enzyme-Replacement Therapy for Infantile-Onset Pompe’s Disease. New England Journal of Medicine, 387(23), 2150–2158. https://doi.org/10.1056/NEJMoa2200587