Recent News

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    Shilpi Bhattacharya writes about the opportunities for a new rare disease policy….

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    WWGM features in an article on rare disease policy…

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    Ultragenyx Announces Closure of Clinical Trial for GNE Myopathy

    http://ir.ultragenyx.com/releasedetail.cfm?ReleaseID=1037951 "a Phase 3 study evaluating aceneuramic acid extended release (Ace-ER) in patients with GNE Myopathy (GNEM) did not achieve its primary endpoint of demonstrating a statistically significant difference in the upper extremity muscle strength composite score compared to placebo. The study also did not meet its key secondary endpoint
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    Featured in Feminism in India

    https://feminisminindia.com/2017/07/18/muscle-disease-gne-myopathy/
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    Story on GNE Myopathy International

    Seventh Edition of GNEM-DMP featured a story on our organisation. https://www.gnemdmp.com/Portals/_default/Skins/Genesis/pdf/GNEM_DMP%20Newsletter_v7_FINAL_English.pdf
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    The National Institutes New Site Related to GNE Myopathy Research

    https://www.genome.gov/27567170/gne-myopathy-studies-about-mannac/
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    Interview of Prof. MadhulikaKabra,

    All India Institute of Medical Sciences, New Delhi highlighting the need for pharma companies to participate in drug development for treatment of rare diseases. http://indianexpress.com/article/delhi/indian-pharma-companies-dont-make-drugs-because-of-insufficient-revenue-4445067/
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    Challenges faced by people with rare diseases

    Challenges faced by people with rare diseases have been highlighted in a recent newspaper coverage http://indianexpress.com/article/delhi/rare-diseases-delhi-cost-of-treatment-gaucher-disease-4445068/
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    19-Feb-2015

    An Open Label Phase 2 Study of DEX-M74 in Subjects With GNE Myopathy The National Institutes of Health in Bethedsa, Maryland. U.S.A. has started recruiting patients with gne-myopathy for a clinical trial using ManNac. They plan to treat 12 patients in the clinical trial. Here is the link with very detailed information. If you have any questions, please feel free to send us an emailhttps://cl
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    28-Feb-2015

    Rare Disease Day Some of the online events: http://www.rarediseaseday.org/event/india/149  http://www.sanfordburnham.org/research/programs/genetics/symposium/Pages/2015.aspx?ItemId=1
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    23-Mar-2015

    "Road To The Cure" - Rare Disease Day Symposium at the Sanford/Burnham Research Institute" I was very fortunate to be able to attend a Rare Disease Day Symposium at the Sanford Burnham Research Institute in La Jolla, California. This campus is located in a coastal area, and the views were quite stunning. I wish more of us could have been able to attend. This symposium was enti
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    04-Apr-2015

    "A Couple Participating in The Boston Marathon is Helping to Raise Awareness for Gne-Myopathy" A couple (Mike and Christine) runners who will be participating in the Boston Marathon has graciously "adopted" me as partner/patient. One of my goals is to globally bring an understanding, and increase the awareness of Gne-Myopathy. We are very fortunate, in addition to recent att
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    28-May-2015

    Ultragenyx Announces First Patient Enrolled in Global Phase 3 Study of Aceneuramic Acid (Sialic Acid) Extended Release in GNE Myopathy http://www.ultragenyx.com/ht/a/GetDocumentAction/i/45418
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    21-Mar-2017

    Release (Ace-ER) in the European Union. For details see http://files.shareholder.com/downloads/AMDA-2CDCD3/2736159177x0x917129/E3CA6B05-3FAA-4E29-BA0D-83802604165B/RARE_News_2016_11_11_General_Releases.pdf
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    17-Jul-2015

    New Method for Production of Muscle Cells from Stem cells that may have promise for a treatment for GNE-myopathy and other inherited diseases. http://musculardystrophynews.com/2015/07/28/promising-therapy-muscular-dystrophy-based-adult-stem-cells/
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    08-Mar-2017

    Policy shame: sick, rare and ignored http://http://www.thehindu.com/opinion/op-ed/the-draft-national-health-policy-ignores-rare-diseases/article8318356.ece/
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    16-Mar-2017

    The theme is “research” and the slogan is “with research possibilities are limitless” Read more at: http://www.rarediseaseday.org/page/news/2017-theme-research Ultragenyx Announces Withdrawal of Marketing Authorization Application for Aceneuramic Acid Prolonged Release (Ace-ER) in the European Union. Read more at: http://files.shareholder.com/downloads/AMDA-2CDCD3/
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    18-Feb-2017

    Withdrawal of Marketing Authorization Application for Aceneuramic Acid Prolonged Release (Ace-ER) in the European Union.
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    24-Feb-2017

    The theme is “research” and the slogan is “with research possibilities are limitless”.    www.rarediseaseday.org
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    Sialyllactose therapy for GNE myopathy

    Scientists from the Institute of neuroscience, Japan have shown that sialyllactose supplementation can alleviate the symptoms of GNE myopathy in a mouse model in a dose dependent manner. This derivative was found to be more effective than free sialic acid. In these experiments the supplementation was given after the onset of the disease, mimicking human conditions. Sialyllactose is a natural deriv
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    Analysis of GNE mutations

    A research group at National Institutes of Health, USA have analysed 154 reported and novel gene variants associated with GNE myopathy. The authors have also predicted likely effect of those mutations on the function of GNE protein. Based on the frequency of these variations in the population they have estimated that the number of patients can be much higher than what is thought to be current numb
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    Gene corrected stem cells:

    Autologous stem cells, that is, cells taken from the same patients where it is supposed to be used, can be useful in treatment of patients with rare genetic disorders. These cells are generally non toxic and have fewer side effects. Unfortunately the cells would have the mutant gene as these have been obtained from patients. If the genetic defect can be repaired, then the corrected stem cells can
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    Synthetic stem cells:

    One of the major problem of stem cell treatment is high potential for getting cancer due to the property of these cells to grow and becomecancerous. A new technique that allows synthetic stem cells to be created, has been successful in treating damaged heart muscles. Read more at: http://www.christian.org.uk/news/ethical-stem-cell-technique-repairs-heart-without-cancer-risk/