Priya Kishnani, MD, Professor of Pediatrics at Duke University Medical Center, discusses intrauterine treatment for lysosomal diseases.



The study, “Measurement of glycosaminoglycans in the amniotic fluid of fetuses with mucopolysaccharidoses treated in a phase I clinical trial by in utero enzyme replacement therapy,” looks at earliest possible treatment options.

Dr. Kishnani discusses the first patient to undergo this therapy, a young girl with severe Pompe disease. The child is now 23 months old and doing well in growth and development. Her biomarkers have also remained in the healthy range.

The study shows promise for future treatment options. However, long term effects will continue to be monitored.

For more information on rare lysosomal diseases, visit