tara

tara
Meeting my Congressman

Saturday, September 10, 2016

First Ever GNEM Patient Organized Webinar, Recap of The NDF Patient Symposium, Ultragenyx-Testing A Pro-Drug for Sialic Acid, And Upcoming Events

Developing a Patient-Centered Approach to Cure GNEM

 GNE Myopathy International and World Without GNEM will be holding its first patient organized and directed webinar.  This webinar will be very informative and would enable patients to offer their input and knowledge so that we would be able to move forward on the path towards an effective therapy. Professor Bhattacharya will discuss "GNE Myopathy Therapies".  We invite all patients, family members, and researchers to join this webinar. "Collectively we will cure GNEM through advocacy, education and research."  http://gne-myopathy.org/

Please refer to the information on how to connect with this webinar, as well as to the poster below on the details of how one could participate in this webinar:

Join from PC, Mac, Linux, iOS or Android: 
Meeting ID: 394 221 126
SIP: 394221126@zoomcrc.com
Meeting ID: 394 221 126



                 Neuromuscular Disease Foundation Patients Day Symposium

Last week the NDF held its third annual Patients Day Symposium.  Patients came from as far away as Japan and Portugal, and from the U.S.A. and Canada.

There were many GNEM-distinguished researchers and scientists attending and discussing current research discoveries for GNE  Myopathy patients.  The first speaker was Dr. M. Hegde, Ph.D. Professor of Human Genetics from Emory Labs.  She had a fascinating discussion on the various forms of genetic testing, including human exome and genome sequencing, as well as the related pattern recognition in various diseases.  It is good to note that she will be a team member on the Scientific Board at the NDF.   Dr. M. Huizing from the National Institutes of Health gave a very comprehensive presentation on the sialic acid/ManNac pathway, including updates on the current clinical trial using ManNac. Dr. S. Krolczyk discussed data from phase 2 of the sialic acid clinical trials conducted by Ultragenyx.  Dr. A. Kogelnik, of the Open Medicine Institute explained precision medicine. The videos could be seen at:  https://www.facebook.com/NDF.HIBM/

Later in the day the patients were able to ask questions from the speakers. Thereafter, Dr. G. Kubacky a psychologist met with the patients separately to help them address various coping skills that may help to  manage GNEM.  A delicious lunch was served at which patients got to socialize and meet with the other patients and doctors.

The evening concluded with NDF  celebrating its tenth anniversary with cocktails, dinner, and a surprise announcement.  It was announced by Mr. E.Yashari and C. Becher, (both board members at NDF) that funds have been allocated to initiate a "Pre-Ind" (1) clinical trial for gene therapy, which will be administered by Dr. J. Mendell.  During the evening  Dr. Mitrani-Rosenbaum called in from Haddassah, Israel to congratulate the NDF on their tenth anniversary, and on the announcement of GNEM gene therapy trial. Subsequently, Dr. C. Bertoni explained the various forms of gene therapy. A short film was debuted on this evening as well enitled - "Bracing For Life."

Day Two of the events were more hands on work with the patients where they participated  in adaptive exercises. learned about correct body mechanics, and other helpful techniques. A segment on nutrition in relation to GNEM specific challenges was also presented to the patients.

Most of these presentations were live-streamed so that patients all around the globe would be able to watch and listen to the experts as they discussed GNEM.The videos can be viewed at: https://www.facebook.com/NDF.HIBM/, and later will be posted at:  http://curehibm.org/

My Note: The pinnacle of knowledge, research, technology, and emotional wellness all came together to conclude another spectacular symposium at the NDF.  Thank you Lale', the NDF, and its Ambassadors, patients, and presenters for making this a remarkably captivating and educational experience.

Ultragenyx Pharmaceutical
Ultragenyx continues to recruit patients for the "Severe Ambulatory Impaired Mobility" clinical trial. Although, some sites may have "not  yet recruiting", please feel free to contact the coordinator at a site closest to you as it takes a while to update the information on the website. For specific sites, refer to the linkhttps://clinicaltrials.gov/ct2/show/NCT02731690?term=gne+myopathy&rank=2

Ultragenyx has started  a preliminary testing on a pro drug (2) to assist with the absorption of Sialic Acid. "UX-001P GNE Myopathy Neurology - Prodrug 2nd generation for UX001." I have copied the link in regards to this information which could be found on page 55 of the document. http://files.shareholder.com/downloads/AMDA-2CDCD3/2516987548x0x907532/7D891BF2-2F95-4137-8F49-D5020CF2B78F/Baird_Presentation_09_08_16.pdf

Upcoming Events:
The Global Genes Organization  will be holding their annual Rare Patient Advocacy Summit for all rare diseases on September 22-23.  I plan to attend and share any pertinent information in my next blog.
GNEM Patient Advocacy Meeting in October, to be hold in Barcelona, Spain: https://scontent-lax3-1.xx.fbcdn.net/t31.0-8/s960x960/13925888_1466306466718656_5838474011700334081_o.jpg

(1) Literature, diiscussion and links on "Pre-Ind"  in regards to drug/gene therapy development:  http://www.fda.gov/BiologicsBloodVaccines/GuidanceComplianceRegulatoryInformation/Guidances/CellularandGeneTherapy/ucm072587.htm
http://www.genetherapynet.com/united-states-of-america.html

(2) ProDrugs - From Serendipity to Rational Design:  http://pharmrev.aspetjournals.org/content/63/3/750.full

After Thought:
Sometimes I dream of, imagine, and contemplate climbing my Everest which is similar to a flight of stairs like this:
                                                         Photo Credit Yoichi
"Disability is not a brave struggle or courage in the face of adversity.  Disability is an art. It's an ingenious way to live."  Neil Marcus

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