February 29 th. 2016, will be the ninth annual Rare Disease Day that will be observed around the world. There are over 7,000 rare diseases, and communities around the world will be conducting various events to bring attention to the plight of patients living with these rare diseases. Our hope is to raise awareness and improve access to treatment both for patients and their families. I would like to give a great big "shout out" to Team India (World Without GNE Myopathy,India) for coming up with an essay contest to raise awareness among the youth population.
Here are some of the events that have been scheduled.
United Kingdom: http://www.rarediseaseday.org/association/60
United States: https://ncats.nih.gov/rdd
Here is a more comprehensive link to a map that includes specific events in respective countries around the world: http://www.rarediseaseday.org/events/world:
Reminders:
Reminders:
Registry for GNE Myopathy Patients:
Previously, I know that some patients may have had difficulty understanding all the information/questions regarding giving "consent" to the Registry, as it was printed only in English. Currently information about what is collected in the Registry have been translated in eight other languages to give you a better understanding. Please register if you haven't registered already. See link below
http://www.treat-nmd.eu/gne/patient-registries/international-registry/**What is a patient registry and why do we want to create one?
"When a clinical study or trial is being planned, it is very important that patients suitable for that trial can be found and contacted quickly. A registry is like a bridge connecting patients and families with doctors and researchers who are trying to understand and treat the disease by making sure that patients’ details are all collected in a single database or “registry”. TREAT-NMD network and Ultragenyx Pharmaceutical are creating this international registry for people from different countries who have HIBM".
**Ref. from treat-nmd. registry's site.
Many Sites Are Still Recruiting Patients For Sialic Acid Phase 3
https://clinicaltrials.gov/ct2/show/NCT02377921?term=gne+myopathy&rank=4
Gene Editing (from GNE-Myopathy International Site)
Gene editing means changing the DNA sequence of an organism (such as human) in situ, that is, within a living organism. This technology has the potential to change any sequence (like a mutation) in a patient’s DNA and convert it back into the normal sequence . Several types of gene editing methods have been developed in the last decade. For more information, please refer to: http://gne-myopathy.org/research.html
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