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
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