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.
Nov 12, 2022
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After decades investigating a rare, life-threatening condition that cripples the muscles, Duke Health researchers have developed a gene therapy they hope could enhance or even replace the only FDA-approved treatment currently ...
Jan 26, 2017
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Kids with Pompe disease fail because of a missing enzyme, GAA, that leads to dangerous sugar build-up, which affects muscles and movement. An enzyme replacement treatment pioneered at Duke University has saved many lives, ...
Jan 5, 2012
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Using a protocol developed at UC San Francisco, physicians have successfully treated a fetus with a devastating genetic disorder for the first time, and the child is now thriving as a toddler, a case study in the New England ...
Nov 10, 2022
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Pompe disease, a severe glycogen storage disease appearing in Lapphunds is caused by a genetic defect in acid α-glucosidase gene. The same genetic mutation also causes the equivalent disease in humans. Based on this finding, ...
Feb 15, 2013
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Today investigators at Children's Mercy Hospitals and Clinics in Kansas City reported the first use of whole genome information for diagnosing critically ill infants. As reported in Science Translational Medicine, the team ...
Oct 3, 2012
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For nearly a third of patients with hemophilia A and almost all patients with Pompe disease, their own immune system is their greatest obstacle to treatment. When given essential proteins and enzymes, their body perceives ...
Sep 30, 2021
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Rare diseases are sometimes the most difficult to treat because of a lack of research and fewer participants to study.
Apr 16, 2021
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A new study has shown that a single injection of a novel adeno-associated vector (AAV)-based therapy can result in improved enzyme activ-ity and glycogen clearance as well as prolonged survival in a mouse model of Pompe dis-ease. ...
Aug 13, 2018
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Gene therapy to replace the protein missing in Pompe disease can be effective if the patient's immune system does not react against the therapy. Targeted delivery of the gene to the liver, instead of throughout the body,suppresses ...
Jun 25, 2012
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