Medical Xpress: PHYSorg news tagged with: enzyme replacement therapy http://medicalxpress.com/ en-us Medical Xpress internet news portal provides the latest news on Health and Medicine. 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 on this finding, canine Pompe disease can now be diagnosed with a genetic test. http://medicalxpress.com/news/2013-02-genetic-defect-pompe-disease-humans.html Genetics Fri, 15 Feb 2013 14:40:03 EST news280158933 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 from 4s3 Bioscience. http://medicalxpress.com/news/2013-01-enzyme-therapy-results-x-linked-myotubular.html Genetics Tue, 22 Jan 2013 11:38:17 EST news278077010 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 characterized by low or no production of an enzyme crucial to survival. http://medicalxpress.com/news/2012-10-anti-cancer-drug-immune-reaction-infants.html Genetics Thu, 11 Oct 2012 16:37:43 EST news269192255 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 the immune response, improving the therapeutic effect, according to an article published in Human Gene Therapy, a peer-reviewed journal from Mary Ann Liebert, Inc. The article is available free online at the Human Gene Therapy website. http://medicalxpress.com/news/2012-06-gene-therapy-treatment-pompe-disease.html Diseases, Conditions, Syndromes Mon, 25 Jun 2012 14:00:01 EST news259848728 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 combined immunodeficiency, including mutation of the adenosine deaminase (ADA) gene. http://medicalxpress.com/news/2012-05-gene-therapy-severe-combined-immunodeficiency.html Immunology Thu, 24 May 2012 12:00:56 EST news257078057 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, but some children with Pompe disease produce an immune reaction that blocks the benefits of the life-saving enzyme treatment. http://medicalxpress.com/news/2012-01-cancer-drugs-hardest-cases-pompe.html Genetics Thu, 05 Jan 2012 17:26:38 EST news245006772 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 to a study in the August issue of IJCP, the International Journal of Clinical Practice. http://medicalxpress.com/news/2011-07-spanish-fabry-disease-patients-react.html Diseases, Conditions, Syndromes Wed, 20 Jul 2011 09:45:56 EST news230373931