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Recap of 2015 and Hopes For The Future for GNE Myopathy - A Cure Yet!

Dear friends, family, and readers:
Thank you for continuing to follow my blog and supporting me in various ways.  I appreciate your attention, communication, and friendship.  Ever since I started writing on GNE myopathy, I have attempted to write about the latest research and have sought to expand  public awareness of our rare disease by attending various conferences and by meeting with as many patients as my physical ability would enable.
This year I have been fortunate to attend many functions of the Rare Disease  community. Ultragenyx and the Neuromuscular Disease Foundation (NDF) have sponsored patients' day at which I was able to meet and socialize with many patients. When I meet fellow patients, I am usually touched and inspired by the manner and grace they manage their challenges. The NDF hosted a Gala in Los Angeles to honor two  GNE myopathy researchers Dr. Argov and Dr. Rosenbaum. Many patients shared their experiences of what it is  like to live with this debilitating disease. 
This is the second year I have attended the Global Genes Symposium that is held annually in California.  I learned many research related details on the process of drug approval, patients' registries, and advocacy within the rare disease community.  This year was very productive because more patients were getting accurately diagnosed.  The Sialic Acid and ManNac trials are active clinical trials that are in full swing, and these are good reasons to celebrate!
Additionally, I have been working to increase the awareness of GNE myopathy, and I would especially like to thank  Ms. Dina Albanese from SmithSolve  who helped  me with this effort. She has been or sending out the story of my family to various web sites, and publications.  The latest publication of my story is featured in the Fall Newsletter of the Myositis Association.  Thank you Dina and SmithSolve for helping us in this endeavor.
My story is on page 11 of this newsletter.http://www.myositis.org/storage/documents/Newsletters/2015/web_-_TMA_Fall2015_Newsletter_SINGLE_PAGE_FORMAT_151027.compressed.pdf


I want also to congratulate our team in India (gne.myopathy.org) for successfully establishing their nonprofit status.  Our India branch sponsored a Disability Day by distributing flyers and giving presentation to various businesses and educational institutions.  Any patient or patient's group are welcome to become a member of  our international site. 

Gene Therapy:
Dr. Darvish and Associates are prepared to begin gene therapy Phase 1 and Phase 2 clinical trials for patients with GNE myopathy.  They have already filed a new Investigational Drug application with the FDA.  They have also been working tirelessly to secure five million dollars to begin these trials.  We expect this gene therapy to be more effective than the other treatments that are currently being developed.  Please circulate and forward this information worldwide to investors who may be interested in this venture.  For more information, contact Dr. Darvish at ddarvish@hibm.org.

Sialic Acid Clinical Trials:
Extended phase 2 continues.  This study is continuing to evaluate fifty six patients who are on  Sialic Acid tablets.  Data published previously on this group reported increased strength in  their upper extremities. This study is not recruiting new patients.

Phase 3:  This study is still recruiting patients with GNE myopathy in a trial for Sialic Acid tablets in  the U.S, Canada, United Kingdom, Israel, and many other countries. The researchers have changed the age limit to 55 from 50.  Please ruse  the following link to contact the recruiters.

ManNac or DEX-M74
The National Institutes of Health in Bethedsa, Maryland, U.S.A., has completed  the Phase 1 study with ManNac.
Here is some  information that researchers observed in Phase 1, which I think is quite encouraging:  "The intracellular localization of GNE and the sialic acid pharmacokinetics profile provide evidence that ManNAc (derived from oral DEX-M74) was metabolized intracellularly in subjects with GNE myopathy, a favorable location for this sialylation-increasing therapy. The fact that ManNAc concentrations returned to baseline within 12-24 h post-dose and sialic acid levels remained increased at least 48h after single oral doses of DEX-M74 allow for 1-2x daily dosing in future multiple dose studies."

Phase 2 ManNac (DEX-M74)
Phase 2 is still ongoing with fourteen patients being treated with ManNac. See the following link.

New Link for Ultragenyx
Ultragenyx, the biopharma company conducting the Sialic Acid trials has a new link that will help patients, caregivers and doctors learn more about GNE myopathy, Please refer to this link.  http://gnemyopathy.com/about-us

I keep learning and growing from attending these educational and patients' day events.  I have met many patients with varied rare diseases, with challenges that make mine feel quite tiny in comparison to theirs. The inspiration or 'take away' I leave with from these functions is that we all are seeking a CURE.  With this desire we continue to travel far and wide to connect with patients, researchers, technologies in the fervent hope that a cure will be discovered. I look forward to meeting more of my fellow GNE myopathy patients and learning more about our disease in 2016.  Have a healthy year.

As Judy Garland would say: "Always be a first rate version of yourself, instead of a second rate version of somebody else."
“Life is like riding a bicycle. To keep your balance, you must keep moving.” - Albert Einstein

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