News tagged with enzyme replacement therapy
The same genetic defect causes Pompe disease in both humans and dogs
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 ...
Genetics
Feb 15, 2013 |
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Anti-cancer drug fights immune reaction in some infants with Pompe disease
Adding a third anti-cancer agent to a current drug cocktail appears to have contributed to dramatic improvement in three infants with the most severe form of Pompe disease—a rare, often-fatal genetic disorder ...
Genetics
Oct 11, 2012 |
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Enzyme replacement therapy shows promising results in X-linked myotubular myopathy
A collaborative research team including a Medical College of Wisconsin (MCW) pediatric neuropathologist successfully mitigated some of the effects of a muscular disease by using a new targeted enzyme replacement therapy strategy ...
Genetics
Jan 22, 2013 |
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Cancer drugs help the hardest cases of Pompe disease
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, ...
Genetics
Jan 05, 2012 |
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Gene therapy can correct forms of severe combined immunodeficiency
Severe combined immunodeficiency is defect in the immune system that results in a loss of the adaptive immune cells known as B cells and T cells. Mutations in several different genes can lead to the development of severe ...
Immunology
May 24, 2012 |
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Targeted gene therapy enhances treatment for Pompe disease
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 ...
Diseases, Conditions, Syndromes
Jun 25, 2012 |
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Spanish Fabry disease patients appear to react differently to the rest of Europe
Spanish patients with Fabry disease, a rare hereditary condition where abnormal fatty deposits collect in blood vessels and organs throughout the body, appear to react differently to those in other European countries, according ...
Diseases, Conditions, Syndromes
Jul 20, 2011 |
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