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Global Genes Summit, Huntington Beach, California, Video Lale Welsh (NDF), and Ultragenyx's Update on Phase 3 Sialic Acid Trial

 This is the second year I have attended this Summit.  If some of you remember, last year, it took me about 12 hours via ground transportation to travel to the summit; this year it took only seven hours. Timewise, I am making progress.  It was very educational and empowering.  It offered  me a way to network with researchers, doctors, policy-makers, and patients in the rare disease community. For those who were unable to follow the live feed or find it too daunting a task to sift through the many presentations I have summarized the information that I think would be of interest to Gne-Myopathy patients. I trust this summary will clarify what was presented.

 Lale Welsh Executive Director (NDF)
Ms.Welsh is from the Neuromuscular Disease Foundation. NDF funds scientists working on Gne-Myopathy, helping patients with screening, and  testing. Here is a brief video of Ms. Welsh summarizing  the symptoms, potential treatment, and testing  associated with  Gne-Myopathy. Thank you Ms.Welsh for focusing the spotlight on our disease. Here is the video link:
For more information  about the Neuromuscular Disease Foundation site please follow this link

 Dr. G. Rao, Director  of Orphan Products Development, The Food and Drug Administration (FDA)
 Her presentation was focused on the FDA's  partnering with patients. A secondary focus was the pharmaceutical companies and  drug development.  The FDA would like more input from the patient community. She listed some areas where patient and/or patient organizations need to focus.  first and foremost that would include (1) Create a robust patient registry;  (2) Educating ourselves about the FDA regulatory process;  (3) Partnering with industry in areas where patients can help to design trial studies, and, (4) Participating in the FDA Advisory Committees to help them with clinical trials and related input on drug development.  Here is the link for FDA by which a patient can apply to become a Patient Representative. Patients are encouraged to apply to be on the advisory team. Patients are essential in helping to bring effective drugs to the market,  check out these links for more information.
FDA patient network:  http://www.fda.gov/forpatients/about/default.htm

Dr. P.J. Brooks, Ph.D.  fromThe  National Institutes of Health (NIH)
Dr. Brooks stated that there are 7,000 rare diseases that are molecular based for which there are only 500 approved therapies . He also mentioned that it takes approximately $350 million to get a drug to market. Dr. Brooks also mentioned the various institutes associated with the NIH.  Currently, a team led by Dr. N. Carrillo is conducting a phases 1 and 2 trials for Gne-Myopathy using ManNac (DEX-M74) The link for this study:

David Glazer, Director of Engineering, Google, and Dr. A. Philippakis from Broad Institute 
They discussed about building a super-platform through which patient groups and the research community would collaborate on storing genomic information. This  will enable scientists worldwide to access and share data. Through this platform they could readily study the natural progressionand history of rare diseases, which would speed up more effective therapies.  Google is looking to do a trial using this platform with three patient groups.  I think this is a great way to speed the discovery of cures. However, we need to be cautious about privacy issues and their related repercussions. Google has partnered with The Autism Speaks MSSG. Here is the link:

Screening of  The Movie "The Lion's Mouth Open":
We were able to view this documentary and to ask questions from the filmmaker Marianna Palka, who is living with the devastating illness of Huntingtons Disease.  Ms. Palka showed such strength when she received her diagnosis.  This is a heart-wrenching documentary.  She has inspired  and energized me to continue my effort to advocate and spread the awareness of Gne-Myopathy. If I ever feel pity for myself, I plan to watch this movie yet again  because my condition is not nearly as severe as those who suffer from Huntingtons Disease.

Ultragenyx's Sialic Acid Phase 3 Update.  Please read this updated flyer and consider participating in this trial.

Global Genes:https://globalgenes.org/

I look forward to next year's summit, and I hope some of my fellow Gne-Myopathy patients will join me.

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