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Clinical Trial to Start Soon for GNE Myopathy Patients Unable to Walk; A Patient's Role as an Equality/Diversity Advisor; Updates ad Reminders

Finally some good news for GNE Myopathy patients who are unable to walk will soon be able to participate in a clinical trial. This trial is sponsored by the bio pharmaceutical company Ultragenyx. The medicine that will be tested is Ace-er  i.e. Sialic Acid (SA).  To be eligible to enroll for the study, you must not have used ManNac or SA for the prior 60 days.  Ultragenyx will be recruiting patients in the United States, Bulgaria, and Canada.  Please refer to this link for a more detailed description of this upcoming trial.  Please share with those who may be interested in this trial.

I am very interested in my friends sharing their life experiences of what it is like to live with GNE Myopathy.  Here is a brief piece on Mona's work life.  Thank you Mona for sharing, and for being of service. 
I have been living with GNE Myopathy for 17 years and it has been a thoroughly challenging time.   In order to survive and thrive, I have chosen to embrace it.  This bittersweet journey has led me to find my calling…
I have been an Equality & Diversity Advisor at one of the best young universities in the world (Manchester Metropolitan University) for nine years.  Not only do I get the opportunity to work with the most awesome people, I also get to shape policies, promote fair practice and ensure that the organisation values diversity.  

Through my work, I work diligently to create an inclusive environment across the whole organisation and make a positive difference to the experiences of disabled people.  I am also an active member of my University’s Disabled Staff Forum run by disabled staff.  This forum aims to support disabled colleagues and acts as a discussion forum for relevant issues affecting their life experience at the University. Our staff networks help individuals find others who face similar challenges and allow group creativity to be used in seeking resolutions to particular challenges.

My passion for disability equality has enabled me to influence positive change outside of the University.  In collaboration with E&D practitioners and Disabled Network Leaders across the country, we have helped build a National Association of Disabled Staff Networks (NADSN). NADSN is a “super-network” that brings together disabled staff networks and groups across the United Kingdom and beyond.  We focus on the Higher Education Sector and are open to any organisations that wish to work with us to examine challenges, share best practices, and to enable disabled people to reach their full potential. 

To highlight the importance of supporting disabled employees so they can flourish, I co-authored NADSN’s first ever peer-reviewed article published in The Journal of Inclusive Practice in Further and Higher Education, Issue 7, 2016 (NADP). This paper helps to advocate the need to build disability confident organisations that bring benefits for all.

An Indepth Report on Phase 2 study of Sialic Acid

This is a recent report that includes an in-depth discussion of the Phase 2 study of the trial of Aceneuramic Acid-Extended Release tablets or Sialic Acid (SA).  I hope my summary of the study will give the patients who participated in this study a little insight into all the components that were tested.   I will try to explain what I understand from this report.  

In the Phase 2 study the researchers found that, based on prior knowledge of SA, that they need to develop the right formulation of this medicine in order for it to be effective.   The reason for this is that when SA is taken orally it is cleared quickly from  the kidneys.  Therefore, for the patients to achieve a steady and continuous level of SA in the blood, an extended release form (SA-ER) of the medicine was developed.  SA-ER has been shown to maintain steady levels of SA for 10-12 hours.
In this study about 62% were female and 60% were of Persian Jewish ancestry. The average age of the patients was 39.7 years, with an average age at onset of the disease was 27.6 years.  About 60% of these patients used orthoses, and about 50% used assistive devices for walking.

Various dosages were tried on three groups.  One group received 3 grams of SA, another group received 6 grams of SA and a third group received a placebo.  It was observed that those who took 3 grams SA lost upper-extremity strength similar to those in the placebo group, whereas those on the 6 grams program  showed improvement (the researchers note this improvement as "statistically significant"). Again, and later in the study, at week 48,  the group on the 6 gram program of SA showed improvement in upper extremity strength compared to those in 3 gram group.

In the study no significant changes were found in the blood tests for glucose, liver enzymes, and blood count. No changes were observed in the MRI scores that were taken at the baseline visit and at week 24.  In conclusion, this study showed that an oral intake of  6 grams/day of SA increased the free SA level in the blood by 2.6 times.

Since assistive devices such as ankle-foot orthoses, canes, and or crutches were used during the 6-minute walk test, these devices could have affected the measurement of muscle strength during ambulation in this portion of the test. Patients at various stages of the disease process were included in this study (early onset to the advanced stages of GNE Myopathy). In the conclusion of this Phase 2  Sialic Acid  study, the findings suggested that treating patients with SA at the earliest possible recognition (onset) of the disease may have the best results. 
My Note:  Because this medicine may prove to be effective at the earliest onset, it is extremely important to globally increase the awareness of GNE Myopathy, for patients to get accurately diagnosed, and, to start treatment as soon as symptoms are noticed.
Here is the link for this article:


As part of mission we aim "collectively to cure GNE Myopathy",  our group in India will co-host a workshop for Rare Diseases in New Delhi, India from April 22-23, 2016: 

Please continue to participate in the Natural History Study at the NIH:  https://clinicaltrials.gov/ct2/show/NCT01417533?term=gne+myopathy&rank=7

If you have not registered yet,  GNE Myopathy patients, please register online:

Ultragenyx is still recruiting for the Phase 3 study of Ace-er (Sialic Acid)  in various countries and in various states in the U.S.


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