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LA Mayor's Office Acknowledges the NDF's Advocacy with GNEM

Wednesday, February 19, 2020

Multi-Center ManNAc Trial Soon to Start, Rare Disease Day Events, And Recent GNEM News And Research Articles


Will 2020 be the year when we will have a viable treatment or will we be very close to a cure for GNE Myopathy?
 I wish I had a "crystal ball" and the foresight to answer the above question affirmatively.  What I know however, is that we are fortunate to have GNE Myopathy (GNEM) given the highest priority by The National Institutes of Health (NIH), Neuromuscular Disease Foundation (NDF), World Without GNE Myopathy (WWGM) and many well known researchers.  The new year looks very promising for our GNE Myopathy community, as these institutions sole purpose is to expeditiously find us a cure.
Many within our GNEM community have been looking forward to this moment when we will be able to participate in the ManNAc trial, and now it's here.  The National Institutes of Health (NIH) in Bethesda, Maryland has launched the long awaited Multi-Center Trial using MaNAc.  A total of 51 patients will be recruited for this randomized "double-blind" study which will be conducted at various sites within the U.S.A.  This trial will last for at least three years. See these links below for additional details:
https://clinicaltrials.gov/ct2/show/NCT04231266?cond=GNE+Myopathy&draw=2&rank=1

https://neuronext.org/projects/nn109-magine
Rare Disease Day Events:

GNE Myopathy is a rare disease and during the month of February there are many events to commemorate all rare diseases worldwide.  This year we will celebrate Rare Disease Day on February 29. Here are some activities that you may want to participate in:

Of interest to our GNEM community is a Symposium that will be held at the Sanford Burnham Prebys Center. There will be many presentations on Congenital Disorders of Glycosylation, hosted by Dr. Hudson Freeze. A well known GNEM researcher from the National Institutes of Health, Dr. M. Huizing will present on the "Basic Science and Clinical Results of ManNAc Therapy in GNE Myopathy."  

2.  What Makes You Rare: 
Join the NDF and the rare disease community in honor of Rare Disease Day by highlighting what makes you rare!  There is more to all of us than GNEM.  You may share a photo of you using the poster (What Makes You Unique Rare?) on social media using the hashtag #whatmakesmerare.  For more see this link:  https://curehibm.org/get-involved/whatmakesmerare.html

Recent News

The Neuromuscular Disease Foundation (NDF) continues to conduct Symposiums, Patient Days, monthly virtual Huddles, and webinars for patients and family members. As NDF strives to reach more and more patients around the world to increase the awareness of GNEM, it has launched a Podcast series where patients and caregivers openly share how GNEM is impacting their life.  If you are  interested in sharing your experience, please contact info@curehibm.org.  Here is a link to the first Podcast:  https://www.youtube.com/watch?time_continue=21&v=ifKCfO02OMQ&feature=emb_logo

World Without GNE Myopathy (WWGM) has started a series called GNE Myopathy Conversations.  For more, see this page :https://www.facebook.com/SupportGNEMyopathy/


Recent GNEM and Gene Therapy Articles

1.  Rare Diseases: Customizing Cures, Patient by Patient.  

2.  Four scientists with disabilities or chronic conditions share their conference conundrums and give advice on improving accessibility.

3.  Gene therapy involves introducing genetic material into a person’s cells to fight or prevent disease.

4.  Fighting the Cause of Alzheimer’s and GNE Myopathy Shreedarshanee Devi, Rashmi Yadav, [...], and Ranjana Arya.

**Over the years of living with GNEM, I have gradually cultivated some coping strategies to assist me with my many physical challenges that are ever present. Some of the coping resources I acquired over time and which I use to motivate myself are reading research articles on GNEM, novels, historical fiction, etc.  When a quote or passage speaks to me, I hold onto it with cherished reflection and renewed hope, so here is a repeat quote from one of my previous blogs:
"When you put together open medicine, open access, open source, and open data- open -all sorts of new channels of research activity become available, and existing ones become exponentially more powerful." 
(The Patient Will See You Now, by Eric Topol, p.211).