Flyers and Patients Stories on Website gne-myopathy.org

The GNE Myopathy website was started a little less than a year ago by a group of patients and family members. We formed this site with the hopes of generating increased awareness for Gne Myopathy, and to collaborate with patients and researchers on finding a cure for our disease.
We have continued to increase the awareness among patients, and to some extent within the medical communities; however, much work needs to be done.  Fellow patients are helping us by disseminating flyers in their respective countries.  These flyers list the signs and symptoms of Gne-Myopathy and have been translated into fourteen languages by native speakers of these languages.  These flyers are available for download from the http://gne-myopathy.org/ website.  We also invite patients to share their stories and would sincerely like to thank Roberta and Liraz for sharing their stories of the various challenges that  Gne-Myopathy presented in their young lives.
This first story is done in a Question/Answer format.

Roberta Living with GNE Myopathy from Turkey

Q. How long have you had GNE Myopathy?
It’s been 8 years now
Q. When and how were you diagnosed? 
My symptoms came out very quickly. Until i was 25, everything was normal; I could do everything until November 2007. First I started to be late to work, I couldn't understand myself my friends were seeing me on the way and they were asking "are you all right? Why are you walking lame?"  Then in 2 weeks I came home late and was climbing the apartment stairs like creeping.. my dad saw this and thought I had something wrong with my bones (like hip dislocation), I had an x ray, nothing was wrong then they send me to a neurologist, she told I could be MS (multiple sclerosis), I’ve seen the MS doctor and she sent me to neuromuscular professor. Then she wanted some tests like EMG, biopsy just to be sure about the disease.

For more information on Roberta's story, please visit:   

  http://gne-myopathy.org/our_stories.html                                                                                                        

Living With GNE Myopathy from a Young Age


My name is Liraz and I was born on April 2nd, 1994 in Kiryat Yam, Israel. I was diagnosed with HIBM at the age of 17, in April 2011. My parents are first cousins, both are Persian Jews. So far, I am the first, and hopefully remain the only case of this disease in my entire family. I also have an older sister (24 years old) and twin brother and sister (13 years old).

For more information on Liraz's story, please visit:
  http://gne-myopathy.org/our_stories.html

Patient Advocacy Symposium Held by the Neuromuscular Disease Foundation; ManNac,Sialic Acid, and Gene Therapy

     The second annual Patient  Advocacy Summit took place at  the University of California in Los Angeles, California on the 29th. of August, 2015. It was organized by the Neuromuscular Disease Foundation (NDF). (a)  The NDF's purpose is to facilitate  the global effort to cure Neuromuscular diseases.   Ms. Lale Welsh, its executive director, and her staff were very conscientious in planning for, and for meeting the unique needs of, our gne-myopathy patient group.   
     Ms. Welsh paid very special attention to our name tags, which consisted of a loop that was easy to be placed around our necks rather than a clip, which would have been difficult for some patients to put on.  Ms.Welsh also made sure that the tables were set at the proper height to facilitate wheelchairs, besides making sure that the conference room would have ample space for such wheelchairs to navigate the aisles.  Generously, the NDF offered travel and accommodation scholarships to patients and made provision for whatever else was needed. Ms. Welsh also ensured that the facility had enough roll-in shower stalls for those who needed to use them.  In addition, she assisted with the "drop-off" and "pick-up" of wheelchairs and scooters that the Muscular Dystrophy Association provided for patients.
       Since I was diagnosed in 2011, I have made an effort to meet as many of my fellow patients as possible. Other than my siblings, I especially remembered a first-time meeting I had with another patient in Sacramento, CA. Both Liz Singh-Juarez and I felt an immediate bond, this bond; it was one of understanding, empathy, and hope, since we both know the trials that this progressively weakening disease had given us. We were thus able to relate as if we had known each other as long time friends. Before meeting gne-myopathy patients outside my family, I felt as if we were the only ones with this weird-looking condition,the waddling gait, the splaying out of our knees and elbows, and of the way we had to hold objects and climb stairs.
     Gne-myopathy presents not only great challenges, it gives us great gifts as well, and these gifts were quite special indeed. I realized I have this disease in common with many talented young as well as older friends. These friends are the most kind, compassionate, intelligent, and positive persons I have ever met.   
     The presenters of this symposium  are well known doctors and researchers who have been doing gne-myopathy research for quite some time. The event opened by Jennifer, Y. giving a brief history of the NDF.  Dr. N. Carrillo from the National Institutes of Health, Bethedsa, Maryland, discussed  the ongoing ManNac trial.(b) The preliminary data of this trial suggests that ManNac is entering the relevant cells and is maintaining sustained levels. This study has completed its 90-day trial period and is projected to continue for  nine more months with the same twelve patients.  No major side effects just minor gastrointestinal issues have been reported.  If plans go as anticipated, the hope is for the ManNac trial to be extended and to be set up at more centers.
     Dr. P. Shieh, MD, Ph.D., from UCLA and Dr. A. Skrinar from Ultragenyx  presented the results of  the extended Phase 2  Sialic Acid study in which they have generally noticed increased strength in the upper extremities.  Their conclusion in "48-Week clinical data suggests that 6g/day SA‐ER has a statistically significant and clinically meaningful effect of stabilizing upper extremity muscle strength in GNE myopathy patients." (c)
   Ultragenyx is currently recruiting for Phase 3 trials worldwide. (d)  Some centers have started dosing patients whereas others have not yet opened up for recruiting.  Some patients will be on placebo and some will be dosed with Sialic Acid, i.e., a double blind study, means that neither your clinic doctor nor yourself will know if you are receiving the Sialic Acid or the placebo.  
     We, then transitioned to a very delicious Hawaiian-themed lunch along with the music. After lunch the patients went to a separate room from the family members so that the patients were able to privately and  freely discuss with other patients what it is like to live with gne-myopathy.  This session was led by Dr. Caughlin.
     Dr. D. Darvish, a fellow patient and researcher of gne-myopathy, attended this event as well.  Some of us were able to meet with him, and we learned that he and his group are working on starting up a gene therapy trial once they are able to secure funding. (e)
     About twenty patients plus many family members attended this event.  Although our ages varied, as did our cultures, our skin color, and the way we walked, looked or held items: we all came together to listen to the doctors and researchers. We came together as one group of patients in the hope that we might inspire, motivate, and instill a sense of urgency to the experts who are researching gne-myopathy, that they might find a cure for us, our offspring, and for the future generation.

**Note Please fellow travelers on the gne-myopathy road, let us get involved,  whether it is in committing to support The Natural History study at the NIH, the GNEM-DMP-on-line site, or one of the trials: as Dr. S. Kurdestani from UCLA mentioned that researchers are continuing to find new information about gne-myopathy on a recently tested group in Iran (Data will be published later).  Since, ours is a rare disease, and there are limited number of patients, the more information experts are able to collect, the better insight they will have in procuring treatments and therapies. They need more patients to get involved and we need to do our part in helping the researchers. Please refer to the links below for additional information.
***A recording of this Symposium will be posted online soon.

Links:
NDF
(a)http://www.ndf-hibm.org/
NIH
(b)https://clinicaltrials.gov/ct2/show/NCT02346461?
term=gne+myopathy&rank=2

ULTRAGENYX DATA ON THE 48 WEEKS' STUDY
(c)http://www.ultragenyx.com/file.cfm/22/docs/Phase%202%20and%20Extension%20Study%20of%20SA-ER%20in%20GNE%20Myopathy.pdf

ULTRAGENYX WORLDWIDE PHASE 3 RECRUITMENT
(d)https://clinicaltrials.gov/ct2/show/NCT02377921?term=gne+myopathy&rank=3

DR DARVISH
(e)https://www.hibm.org/arm/

GNEM-DMP ONLINE SITE/QUESTIONNAIRE
(f)http://www.gnem-dmp.com/?gclid=COXlqZem4ccCFY9hfgodqqsOfw