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Meeting my Congressman

Saturday, June 11, 2016

Clinical Trials - Frequently Asked Questions, Founder Mutations, Request of Patients of Indian Origin,Patients' Day, And More


Clinical Trials and FAQ's

When one has a rare disease, it is a  good practice to monitor trial sites and companies that announce GNE Myopathy clinical trials. Participation in clinical trials and natural history studies provide important information to doctors, researchers, and yourself about a particular rare disease.  It is  imperative to participate in clinical trials and registries when you have a rare disease, such as GNE Myopathy, as there is a limited number of patients who can provide data that may lead to a treatment and more importantly a cure.  


Do Participants still get treatment after a clinical trial ends?
The answer to this and other questions could be found at this link - clinical trials 101:
http://musculardystrophynews.com/clinical-trials-101/
Note: It may be frustrating  to see on the clinical trials. gov site that states  "recruiting"; however, when you contact this site you are notified that the study is closed to new participants.  This is because it may take some days or weeks for the clinical trials.gov site to be updated. 

What Is a Founder Mutation?
Some of us may have heard  researchers mention the phrase "founder mutations," in its historical and geographical implications. This is an interesting  piece of the puzzle with GNE Myopathy. "Founder mutations often spare their carriers and therefore can spread from the original founder to his or her descendants." http://www.scientificamerican.com/article/founder-mutations-2006-06/?page=2
For those who are interested in  their ancestral history and how their mutations trace back for centuries, Dr. Argov has published a very interesting and fascinating paper regarding the founder mutations.  He states that "A cluster of GNE myopathy patients due to p.M743T mutation was identified in a small town (Sangesar) in Northern Iran. Many belong to the Bahai religion (a relatively new religion originating in Persia during the 19th century)." Later, in the paper, Dr. Argov went on to note that the European Roma Gypsy's mutation p.I618T  is another founder mutation which dates back to the 13th. and 14th. centuries AD.  There are about 50 such patients with GNE Myopathy in Bulgaria.  Please refer to this link for the complete paper: http://content.iospress.com/articles/journal-of-neuromuscular-diseases/jnd150087

A Request for Patients of Indian Origin 
GNE Myopathy International is kindly asking patients of Indian origin to submit a copy of their GNE Myopathy mutations. This will help the group to get a better understanding of which mutations are more widespread in the Indian population. In addition, this information will help the group in their advocacy efforts within India to generate public concern and to lobby for more research towards finding and funding a cure.
Contact information: gne.myopathy@gmail.com
Website:  http://gne-myopathy.org/

Sialic Acid Phase 2 Trial
This article was published a while back. It discusses Sialic Acid, now known as aceneuramic acid Extended Release (Ace-ER) 
https://www.sciencedaily.com/releases/2016/02/160222144340.htm
The researchers state that "The findings suggest that initiating treatment earlier in the disease course may lead to better outcomes. It is our hope that the Phase 3 trial will result in the first therapeutic agent for this condition.” 1
1.  http://www.healthcanal.com/bones-muscles/70517-phase-2-clinical-trial-to-treat-rare-hereditary-muscle-disease-shows-promise.html
GNE Myopathy Newsletter by Treat NMD
This most recent edition contains topics on clinical trials, patients organizations, and the current ManNac trial at the National Institutes of Health.  Here is the link:

 https://www.gnemdmp.com/Portals/_default/Skins/Genesis/pdf/2016-apr.pdf 
https://www.gnem-dmp.com/Home/Newsletters

Images of Ultragenyx's 2016 Patients Day
Patients from all over the United States and from other countries attended this fun event. Again, this year the music was phenomenal, which got many attendees to keep dancing till the end. There were abounding quantities of delicious food that were just irresistible.  Along with many other rare disease patients, there were many patients from the GNE Myopathy group, some of whom came from as far away as Taiwan. 
 

Upcoming Events:
*July  5 -9:  There will be an International Congress of Neuromuscular Disease in Canada.  See specifics at:
http://icnmd2016.org/

*August 29th: There will be a  patients day hosted by the Neuromuscular Disease Foundation.   Please check the website for details once they are accepting applications for travel stipend.  http://ndf-hibm.org/

GNE Myopathy Support Groups
These groups are closed groups as the discussions within these groups are related to those who have our disease.  Please let me know if you need my help in setting up a group in your own language. 
Arabic Language Group:  https://www.facebook.com/groups/932711150182944/
EnglishLanguageGroup https://www.facebook.com/search/top/q=hibm%20%2F%20gne%20myopathy%20support%20group
Hebrew Language Group:https://www.facebook.com/groups/1544523909170865/
Italian Language Group:
 https://www.facebook.com/groups/associazione.gliequilibristi.hibm/
Japanese Language Groupshttps://www.facebook.com/padmenigata/?fref=photo
http://npopadm.com/

Please sign this petition regarding a policy to save the children with rare diseases.   It is easy and simple.https://www.change.org/p/prime-minister-implement-rare-disease-policy-and-save-children-diagnosed-with-rare-diseases



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