Images of 2016 With Hopes for Getting Closer to a Cure in 2017

                

Dear friends, family, and readers:
Thank you for continuing to follow my blog, and for helping me in my effort to increase awareness of GNE Myopathy.  I appreciate your attention, communication, friendship, and for reaching out to me.  Ever since I started writing about GNE Myopathy, I have attempted to write about the latest research and have sought to expand public awareness of our rare disease by attending various conferences and by meeting with as many patients as my physical ability would allow.
This year I have been fortunate to attend many functions of the Rare Disease community and decided to close out 2016 by showing some of the highlights in images.  

Highlights in Images in 2016:
A Guest Blogger's visit  to a GNE Myopathy patient Kai-Ni-Ma in Taiwan

 A GNE Myopathy patient Kam's illustration was selected by the Everylife Foundation for display during the Rare Disease Caucus in Washington, D.C.
 


Stories of GNE Myopathy patients Shilpi and Mona's fundraising efforts:

     

The Ultragenyx's Patients Day 2016 held in California. It was a fun filled event and was attended by patients from many countries.


Another Patients Day held by Ultragenyx in Barcelona, Spain and was attended by GNE Myopathy patients with their care givers.

A two-day symposium sponsored by the Neuromuscular Disease Foundation (NDF) was attended by patients from as far away as Japan and Portugal.  What a fun group!  I look eagerly forward to our next meeting.

One of the most important highlights of 2016 was the announcement by Mr. E.Yashari and C. Becher (both board members at NDF),that funds have been allocated to initiate a "Pre-Ind" clinical trial for gene therapy, which will be administered by Dr. J. Mendell. 


The NDF has launched their new dynamic and very informative website this year, It is a very user friendly site.  In addition, a short video about GNE Myopathy in which I played a brief part "Bracing for Life" is to be found on this site at  http://curehibm.org/

And yes, education, and advocating and meeting friends in the rare disease community at the Global Genes Conference was truly an inspiring experience for me.

The international patient organization, GNE Myopathy International (GMI) http://gne-myopathy.org/ has initiated a webinar series in 2016 directed and organized by patients.  The first and second webinars addressed current and potential treatments for GNE Myopathy.  Each webinar was attended by an average of 25 patients from all over the world. The presenters were Prof. Bhattacharya, a member of http://gne-myopathy.org/ and Lale' Welsh, CEO of the NDF and http://curehibm.org/

GMI supported by World Without GNE Myopathy (WWGM) have been very active in India in 2016 by distributing flyers, organizing workshops, and  funding an essay contest on rare diseases. For more on their activities please visit:  http://gne-myopathy.org/upcoming_events.html

Link for Current and Ongoing Trials for GNE Myopathy
https://clinicaltrials.gov/ct2/results?term=gne+myopathy&Search=Search

Since I was correctly diagnosed with GNE Myopathy  in 2010 and started writing a blog and I have continued to be encouraged that a cure would be discovered. Even before my correct diagnosis I have experienced many physical challenges, I have been dismayed at times; however, I have remained hopeful. I remain hopeful because I know there are many researchers, doctors, a biotech company, and the National Institutes of Health (NIH) all working on an effective therapy for GNE Myopathy.  Not many rare diseases have this collaboration; therefore I feel quite fortunate.   I look forward to meeting more of my fellow GNE Myopathy patients and learning more about our disease in 2017.  

Second-Ever Patients Webinar, A Survey for Patients, A Short Video On GNE Myopathy, Ultragenyx Withdrew Its European Application For Sialic Acid

GNE Myopathy International (GMI) held its first-ever patients webinar in September and it was a great success.  We had patients from all over the globe participating in that webinar. Now we are planning a second patients webinar in collaboration with  the Neuromuscular Disease Foundation (NDF) on December 3. Lale' Welsh, the CEO from the NDF has graciously volunteered to be the presenter.  The discussion is on "Recent Developments in Treatments for GNE Myopathy."  Please refer to the attached flyer on how to connect to this upcoming webinar. 
Webinar Flyer And Direct Link to Connect on Dec. 3rd. 8 a.m. Pacific Time:  https://altvil.zoom.us/j/525434317?pwd=&status=success

Survey For Patients
GNE Myopathy International (GMI) has developed a short survey on various treatment options for GNE Myopathy patients. This survey is intended to collate patients driven information on therapies/treatments with the hope that the entire community might benefit.  All survey responses will remain anonymous to all including the ones hosting the survey. We hope to share the data from this survey at our next webinar.  It takes about 10 minutes to complete this survey. 

Link for Survey: https://docs.google.com/forms/d/e/1FAIpQLSeyI9xIaLN6BVQJHcWUUw2PIHcYRA25IfYcvm6cABlwyZBW8w/viewform?c=0&w=1


The Neuromuscular Disease Foundation has prepared a short and relevantly meaningful video on GNE Myopathy. It gives a brief overview of the earliest historical transmission of the GNE gene, its diaspora, its challenges, and the current therapies for GNE Myopathy.  I feel very humbled to be featured in a small part of this video.

Bracing For Life With GNE Myopathy Video:
https://vimeo.com/190395430

http://curehibm.org/news-events/videos.html


Ultragenyx's Withdrawal of Marketing Application of Sialic Acid in the European Union

On November 11, Ultragenyx announced the withdrawal of the Marketing Authorization Application (MAA) for Aceneuramic Acid Prolonged Release (Ace-ER or Sialic Acid) in the European Union. Ace-ER (Sialic Acid) is used  in ongoing trials for patients with GNE Myopathy.

Data based on the Phase 2 study of Sialic Acid was presented to the European Committee for Medical Products for Human Use (CHMP).  This Committee agreed that the Phase 2 study was encouraging but "did not provide sufficient amount of evidence to support approval at this time."

Meanwhile, Ultragenyx aims to collect more information based on the efficacy of Ace-ER on patients who are currently enrolled in the Phase 3 trial. Ultragenyx's CEO Dr. Kakis, stated that "Our Phase 3 study is on track and is designed to confirm the encouraging results seen in Phase 2 study." Dr. Kakis further emphasized that Ultragenyx is "committed to bringing this potential therapy," to GNE Myopathy patients.
Here is a link for the complete article:
http://ir.ultragenyx.com/releasedetail.cfm?ReleaseID=998999

Summing Up the Presentations at the Global Genes Summit, Summary of the First Patient Webinar, Google Group for Patients, Fundraising by Allison and More...

     This year the theme of the Global Genes Summit was "Learn, Connect, and Inspire".  The agenda for this two-day conference was planned and designed in partnership with rare disease patients,caregivers, and experts within the rare disease field. This summit was attended by over five hundred participants. I was quite fortunate to have been able to attend this Summit where I met some old friends and made new some connections.  I came away from this summit feeling quite empowered, informed, and more energized to reach out and connect with those who may be able to help our GNE Myopathy community.  I want to especially thank Global Genes (one of the better-run organisation I have encountered) and its staff for helping me.
     Some of the main points I learned that are globally applicable to our community and I think would help us to focus on are the following:

1. One in 10 Americans suffer from a rare disease which amounts to approximately 30 million Americans, and 350 million persons worldwide.
2.  80% of rare  diseases are caused by faulty genes, as is our disease, the GNE gene.
3. We need to study and incorporate what other successful rare disease communities have done to further their cause and incorporate some of their steps to further ours such as the Jain Foundation and Autism Speaks Foundation have done.
4.  It is vital that we find out who are the main players in the rare disease industry that will move our cause forward, and seek partnership with them
5. We must push for evidence-based therapies, and do not rule out therapeutic foods
6.  Technology both (disruptive and innovative) is very important and may come into play for GNE Myopathy.  An example would be the "Foldit" challenge that the Jain Foundation has successfully launched, and CRISPR  (a)
7.  Precision Medicine (how do we turn a gene on and off).
8.  Our GNE Myopathy community needs to create a platform such that we could give our consent to the experts for them to share and examine our  medical data with others (experts) so that they would be able to access and cross-reference the various registries, natural history studies, our laboratory information and biopsies, as this  data would provide  a more complete picture about GNE Myopathy. Currently, most of our medical data is fragmented.  This important point was brought up as well at the NDF Patients Symposium.

     In most of my blog posts I emphasize the importance of  both the role and the voice of the patients.  We in the GNE Myopathy community need to be actively engaged by pursuing A Cure, at the forefront of our cause  Each of us can play an important part with this cause  by reaching out and building relationships with experts, other patients, biopharma companies, and others who could help us get our cure. Our solution might well come from an unlikely source!  We should uncover every mystery until we get to our final goal.

Complete information on my above take-away points and more  are available on the Global Genes Website
https://globalgenes.org/raredaily/global-genes-platformq-health-to-launch-rareuniversity-com-with-live-coverage-from-the-2016-rare-patient-advocacy-summit/

Summary of the First GNE Myopathy  Webinar by Imad K  and Slide Presentation by Professor A. Bhattacharya  

• With 20+ participants from various parts of the world and a very engaging agenda, the webinar lasted about 2-1/2 hours. Time of day for the webinar seemed to be best suited for those in North America, Europe, Middle East and Central Asia.
• Prof. Alok Bhattacharya introduced us to several different potential treatment options and their application in other diseases (Shilpi has posted a slide deck that contains all of that information). The goal is to move forward with a therapy that is fast-moving, effective and affordable.*
• It was also suggested that one way forward for us is to select one of the many existing therapies being developed that is well advanced in its therapeutic potential (in advanced clinical trial stages) e.g. messenger RNA therapy. This would make it faster and easier to bring that therapy to the market.
• Ultragenyx has a study on mRNA therapy but GNE Myopathy is not included amongst the conditions being tested at this time.
• Some patients have reported small-scale success stories after having tried alternative therapies such as stem cell therapy and homeopathic medicine.
• Many are eager to learn about an appropriate exercise regiment that may help save active muscles in order to stop/slow progression until a cure is made available.
• Patients have shown interest in getting involved with the initiative and would like some direction on how to do so.
• Please provide feedback or suggestions for future webinar via our private f/b group or feel free to email me.

*Note: Currently, my blog program is not allowing me to attach the Power Point slides presented by Prof. Bhattacharya.  Please contact me or gne.myopathy@gmail.com
if you would like a copy.

Google Group for GNE Myopathy Patients

We need to utilize all mediums of communication to generate information about  our disease.  This group consists of patients and caregivers.  It is  private and visible only to members in order to maintain privacy.  Please click on the link and request to join.  

https://groups.google.com/forum/#!forum/gne-myopathy-support-group

Allison's  Ability Fundraising
Please read Allison's courageous story on living with GNE Myopathy and how she is raising awareness and vital funds for research for our community. 

           http://campaign.justgiving.com/charity/muscular-dystrophy/alisonsability

And More...

Here is a link to the most recent GNEM's newsletter.  There is some interesting information about the registry statistics.
https://www.gnemdmp.com/Portals/_default/Skins/Genesis/pdf/GNEM_DMP%20Newsletter_v5%202.pdf

More links on Innovative and Disruptive Technologies:
(a)  http://www.businesswire.com/news/home/20160930005682/en/Online-Gamers-Invited-Tackle-Rare-Muscle-Disorder
http://sitn.hms.harvard.edu/flash/2014/crispr-a-game-changing-genetic-engineering-technique/

First Ever GNEM Patient Organized Webinar, Recap of The NDF Patient Symposium, Ultragenyx-Testing A Pro-Drug for Sialic Acid, And Upcoming Events

Developing a Patient-Centered Approach to Cure GNEM

 GNE Myopathy International and World Without GNEM will be holding its first patient organized and directed webinar.  This webinar will be very informative and would enable patients to offer their input and knowledge so that we would be able to move forward on the path towards an effective therapy. Professor Bhattacharya will discuss "GNE Myopathy Therapies".  We invite all patients, family members, and researchers to join this webinar. "Collectively we will cure GNEM through advocacy, education and research."  http://gne-myopathy.org/

Please refer to the information on how to connect with this webinar, as well as to the poster below on the details of how one could participate in this webinar:
Join from PC, Mac, Linux, iOS or Android: 

Meeting ID: 394 221 126
SIP: 394221126@zoomcrc.com

International numbers available:
https://altvil.zoom.us/zoomconference?m=yhdomeV83PIyqr8fdSHU9K6JzCSzjhbO

Meeting ID: 394 221 126

                 Neuromuscular Disease Foundation Patients Day Symposium

Last week the NDF held its third annual Patients Day Symposium.  Patients came from as far away as Japan and Portugal, and from the U.S.A. and Canada.
There were many GNEM-distinguished researchers and scientists attending and discussing current research discoveries for GNE  Myopathy patients.  The first speaker was Dr. M. Hegde, Ph.D. Professor of Human Genetics from Emory Labs.  She had a fascinating discussion on the various forms of genetic testing, including human exome and genome sequencing, as well as the related pattern recognition in various diseases.  It is good to note that she will be a team member on the Scientific Board at the NDF.   Dr. M. Huizing from the National Institutes of Health gave a very comprehensive presentation on the sialic acid/ManNac pathway, including updates on the current clinical trial using ManNac. Dr. S. Krolczyk discussed data from phase 2 of the sialic acid clinical trials conducted by Ultragenyx.  Dr. A. Kogelnik, of the Open Medicine Institute explained precision medicine. The videos could be seen at:  https://www.facebook.com/NDF.HIBM/

Later in the day the patients were able to ask questions from the speakers. Thereafter, Dr. G. Kubacky a psychologist met with the patients separately to help them address various coping skills that may help to  manage GNEM.  A delicious lunch was served at which patients got to socialize and meet with the other patients and doctors.

The evening concluded with NDF  celebrating its tenth anniversary with cocktails, dinner, and a surprise announcement.  It was announced by Mr. E.Yashari and C. Becher, (both board members at NDF) that funds have been allocated to initiate a "Pre-Ind" (1) clinical trial for gene therapy, which will be administered by Dr. J. Mendell.  During the evening  Dr. Mitrani-Rosenbaum called in from Haddassah, Israel to congratulate the NDF on their tenth anniversary, and on the announcement of GNEM gene therapy trial. Subsequently, Dr. C. Bertoni explained the various forms of gene therapy. A short film was debuted on this evening as well enitled - "Bracing For Life."

Day Two of the events were more hands on work with the patients where they participated  in adaptive exercises. learned about correct body mechanics, and other helpful techniques. A segment on nutrition in relation to GNEM specific challenges was also presented to the patients.

Most of these presentations were live-streamed so that patients all around the globe would be able to watch and listen to the experts as they discussed GNEM.The videos can be viewed at: https://www.facebook.com/NDF.HIBM/, and later will be posted at:  http://curehibm.org/

My Note: The pinnacle of knowledge, research, technology, and emotional wellness all came together to conclude another spectacular symposium at the NDF.  Thank you Lale', the NDF, and its Ambassadors, patients, and presenters for making this a remarkably captivating and educational experience.

Ultragenyx Pharmaceutical
Ultragenyx continues to recruit patients for the "Severe Ambulatory Impaired Mobility" clinical trial. Although, some sites may have "not  yet recruiting", please feel free to contact the coordinator at a site closest to you as it takes a while to update the information on the website. For specific sites, refer to the link: https://clinicaltrials.gov/ct2/show/NCT02731690?term=gne+myopathy&rank=2

Ultragenyx has started  a preliminary testing on a pro drug (2) to assist with the absorption of Sialic Acid. "UX-001P GNE Myopathy Neurology - Prodrug 2nd generation for UX001." I have copied the link in regards to this information which could be found on page 55 of the document. http://files.shareholder.com/downloads/AMDA-2CDCD3/2516987548x0x907532/7D891BF2-2F95-4137-8F49-D5020CF2B78F/Baird_Presentation_09_08_16.pdf

Upcoming Events:
The Global Genes Organization  will be holding their annual Rare Patient Advocacy Summit for all rare diseases on September 22-23.  I plan to attend and share any pertinent information in my next blog.
GNEM Patient Advocacy Meeting in October, to be hold in Barcelona, Spain: https://scontent-lax3-1.xx.fbcdn.net/t31.0-8/s960x960/13925888_1466306466718656_5838474011700334081_o.jpg

(1) Literature, diiscussion and links on "Pre-Ind"  in regards to drug/gene therapy development:  http://www.fda.gov/BiologicsBloodVaccines/GuidanceComplianceRegulatoryInformation/Guidances/CellularandGeneTherapy/ucm072587.htm
http://www.genetherapynet.com/united-states-of-america.html

(2) ProDrugs - From Serendipity to Rational Design:  http://pharmrev.aspetjournals.org/content/63/3/750.full

After Thought:
Sometimes I dream of, imagine, and contemplate climbing my Everest which is similar to a flight of stairs like this:

                                                         Photo Credit Yoichi
"Disability is not a brave struggle or courage in the face of adversity.  Disability is an art. It's an ingenious way to live."  Neil Marcus

Mona's Effort At Raising Awareness For GNEM, NDF's - Impressive Patients' Day Symposium, Newly Launched Website, Sialic Acid Trial Now Recruiting Severely Impaired Ambulatory Patients

When we find out we have a rare disease, initially it can be quite devastating and as time progresses we find out we have choices about how we proceed with our disease.  Here is  one patient's effort to make a difference by raising funds to support GNE Myopathy International (GMI) http://gne-myopathy.org/.  We would like to express our sincere gratitude to Mona, Mayank, and friends for their inspiring effort and initiative to raise funds for our patient organization. 
We, at GMI, are very  proud and touched by their effort and know that initiatives like this are paramount to our community finding and funding a cure for GNEM where our mission  is: "We envision a world where myopathies will not impede human aspirations, and where patients, and researchers collaborate on finding a cure for GNE Myopathy."

Mona's Story:
I live with a rare muscle disease called GNE Myopathy. I’ve not always had the symptoms of it; in fact, I was an active and independently able-bodied person until my mid-twenties so the disease was a shock. Over the years, it’s deprived me of my muscle strength to the point now where I need to depend on equipment with everyday activities and mobility devices to get around. What’s worse is, it makes me feel ‘needy’, which I find difficult but I don’t have a choice. The one thing I do have a choice over is how I deal with this challenge. I have created strategies to help me manage the changes and I have made the choice to embrace the disease so I can try to make a difference to the lives of other disabled people. This disease has taught me empathy, determination, how to confront barriers and reduce stigma, particularly in my Asian community. This disease has brought kind, resourceful, strong-willed and inspiring people into my life for which I am enormously thankful. One such person is my amazing Brother-in-Law.  For more on Mona's story and her fund raising link https://www.justgiving.com/crowdfunding/MonaPatel-GNEMyopathy?utm_id=60&utm_term=jjpPRQnMP

Mayank the Person Behind the Duathlon and Fundraising  
Mayank  has kindly offered to raise money for this cause by taking part in the London Duathlon on 18th Sept 2016 consisting of a 10K run, followed by a demanding 44K bike ride and ending with a 5K run. Mayank's preparation for this grueling feat is based on his dedication to bring attention to GNE Myopathy.  For the past six  weeks he has a very rigorous schedule of  running, biking, and core exercises in order to be in optimum conditioning to participate in the duathlon. URL for this event: https://londonduathlon.com/race-day/route/duathlon

In Mayank's words... out of admiration for Mona, I started training just six weeks prior to the event due to a back problem.I normally raise money for different charities, recently for my sister who suffered badly from rheumatoid arthritis (but thankfully  I am now doing better). Since 2014, I have been wanting to help raise awareness for GNE Myopathy as I have seen Mona's condition deteriorate gradually over the years such that now she needs help to do routine tasks, that I take for granted.  I know that some of the minor difficulties that I faced when I get injured and know how painful, frustrating and depressing things can get not being able to use my body to the fullest even for a short period.  I am amazed by  the resilience Mona has shown year after year and of course her condition is way worse than any injury I have had to deal with. Mona is always eager to participate in life to the fullest - this is what inspired me to take on this challenge to help raise funds and awareness of GNE Myopathy. I hope that money raised will be a start to providing support and one day soon in finding a cure.

And, Mona continues to inspire more people... more recently,  a couple of her friends, Sanjay and Satish decided to set up a second fund raising site.  Their intention is to increase  public awareness of GNE Myopathy and to donate all proceeds to GMI.  Please refer to this link and learn more about Mona:  https://www.justgiving.com/crowdfunding/sat-sanj?utm_id=67

The NDF has planned a two day informative and interactive symposium for patients and family on August 31-September 1st.  Many patients will be attending from the U.S. as well as from overseas.  I look forward to two inspiring days of meeting patients, caregivers, and doctors. I truly believe together we are stronger in curing GNE Myopathy.
Some of the speakers include Dr. M. Hedge from Emory Genetics, Dr. E. Connor from Ultragenyx, Dr. M. Huizing from the NIH and many more.  For a complete lineup of speakers and activities please refer to this link.

http://events.r20.constantcontact.com/register/event?oeidk=a07ecuiyp8578ca192b&llr=5ukeofsab

The NDF has recently launched their new website with many recent updates on testing, research, trials, and a special section on FAQ's.  Check it out and please send us feedback:  http://curehibm.org/

The Sialic Acid trial for severe ambulatory impairment is still recruiting patients - you may contact the sites directly, and let me know if you need  my assistance. Here is the link:  https://clinicaltrials.gov/ct2/show/NCT02731690?term=gne+myopathy&rank=2

NDF Third Annual Symposium, My Exercise Routines, Presentations at the International Congress for NMD, New Advocacy Site And GNEM Newsletter in Many Languages

  The Neuromuscular Disease Foundation will be hosting its third Annual Symposium at the University of California, Los Angeles, on August 31 and September 1.  This event will focus on celebrating GNE Myopathy patients, increasing awareness of this disease, and it will present the most  recent developments in GNE myopathy by speakers from the National Institutes of Health, Ultragenyx, and Emory Labs. There will also be a session on nutrition and exercise.  I look forward to seeing many of my friends.  Here is the link to register:  http://events.r20.constantcontact.com/register/event?oeidk=a07ecuiyp8578ca192b&llr=5ukeofsab

My Exercise Routines

I have been intending to post a few of my exercise routines for a long time as many friends and patients have asked me what kinds of exercise I practice.  I know that as GNE Myopathy patients, we are quite diverse in the degree of our progression of this disease, and at the same time limited as to what exercises we can do, due to our physical condition. Therefore, some of us can still run or climb stairs or walk without a cane, whereas others need to use leg braces (afo’s), a cane, or a wheelchair. 

When I was first diagnosed with a muscle disease, my doctor advised me to not exercise because that would hasten muscle weakness.  I spoke to many patients in the GNE Myopathy community, and also to others who have various subtypes of muscular dystrophies, they - like me - were told as well not to exercise.  
Currently, however, I think many in the medical field are looking at what exercises that those with muscle diseases would find most appropriate. More and more the advice of those in the medical field has shifted towards various forms of functional exercises to maintain/improve quality of life for patients.  I believe that the effects of exercise on those with neuromuscular diseases should be examined more completely by the scientific community.

Throughout my life I have never not exercised so when my doctor advised me to discontinue exercise, I continued nevertheless to exercise, knowing that I absolutely needed to pay attention to how my muscles felt.  Specifically, I needed to evaluate how sore, how exhausted or how much pain I felt after my exercises.   As my disease progresses, I continue to tailor my exercises to fit my physical abilities.  I used to dance, jog, and do aerobics. Then I gradually had to change to yoga and tai chi, and now I have to switch to adaptive PE and water aerobics. I am also very attentive and “tuned in” to how my body feels as I begin and end my exercise routine.   If I feel energetic or if I feel any sign of pain or exhaustion I adapt to my new condition. I feel quite weird and funny saying this -"I feel as if my muscles contain memory and are able maintain the memory of my particular daily movements, and they tell me what I can do and cannot do" (LOL).  

At times I compare myself to a younger version of myself - the invincible who has no limitations!  I invariably wish I could muster up the muscle strength to be and look a little more graceful in walking.  This disease has continued its weakening effects on my muscles and has rendered my gait somewhat clumsy, waddling, and slow.

For me, walking feels like I am living in an alien body.  Recently, I looked at a video of me walking. Oh my! I am saddened and have become quite self-conscious, and have stalled in my thoughts - I have even cried! Truly, I mourn daily in very moment of my conscious awareness of how I was once physically capable.  Then I remind myself of a quote by Oriah Mountain Dreamer   "I want to know if you can see Beauty even when it's not pretty, every day, and if you can source your own life from its presence."

     **  PLEASE CONSULT YOUR DOCTOR BEFORE  STARTING ANY EXERCISE REGIMEN

Using a hand control vehicle to get to my exercise class:

This video shows "sit-to-stand".

Using a Nu Step. I use a yoga strap to keep my knees from splaying out.                                  

Here I am using a leg press to target my lower body - quadriceps, glutes, hamstring, and hips.              

 

This one shows my instructor explaining the techniques and purpose for this exercise.              

Postural chain with seated rowing using a theraband.                                                                              

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 Groups: https://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

Common Ground: A Rare Disease Patient Faces Similiar Physical Challenges As Those With GNE Myopathy

Note:There are over 7,000 rare diseases, some are very difficult to diagnose, and it could take decades to get the right diagnosis like me, and my friend Mark.  Although, he is placed in the Muscular Dystrophy category (sub-type unknown), Mark has similar physical challenges as those with GNE Myopathy.
Thank you Mark for giving us a small glimpse into your life.

Hi. My name is Mark and, like Tara, I have a form of muscular dystrophy. It's a slightly different type, but more about that in a minute.

The month I was born, January 1961, my dad was being diagnosed with muscular dystrophy. He was the first case ever in our family. I grew up watching him deteriorate over the years. It wasn't rapid but became bad enough by the time I was old enough to play baseball and other sports that my dad couldn't partake or play with me. At 14 years old I became his primary caregiver.

My dad never knew WHY his muscles were dissolving away. In the late 1960s he was told that an enzyme was suspected of eating the muscle tissue away. This was never verified of course because we now know that it's a genetic flaw; a tiny piece of missing DNA that happens to be an important step in a recipe that makes the protein that builds muscle.

My genetic flaw has not been determined. I belong to a group of muscular dystrophy patients referred to as "Subtype Unknown." Half a dozen genetic tests, looking at every known MD causing flaw have come back "normal" (negative). There are at least 40 confirmed and another 45-50 suspected flaws. This is extremely frustrating. Enter my friend Tara whom I met because of my relentless internet searching on undiagnosed muscular dystrophies. I learned that Tara spent many years in the same diagnostic limbo as I have been in for the past 14 years. She's been my inspiration to never give up the search!

My symptoms are very similar to Tara's. So I made certain to have my GNE gene looked at. A mutation in the GNE gene causes GNE Myopathy. For me the result was negative; no mutation in my GNE gene.

Like Tara I struggle physically but remain optimistic about my future. I keep busy helping and supporting others with MD and keep myself busy with my family and hobbies. I have a wonderful wife and two daughters who love and support me.

In September 2015 I was interviewed for Limb-Girdle Muscular Dystrophy Awareness Day. Both "the day" and the interview were designed to help unaffected people understand what it's like to live with this disease. I'd like to share a few of my responses here:

What are your greatest challenges living with MD?

Having to constantly ask for help. Watching my wife and daughters do the chores that I would enjoy doing, and that the man of the house usually does; yard work, repairs, etc. Watching my wife give up outings, restaurants, vacations, and so on. I can live without, but it’s not fair to her. I encourage her to do those things, but she misses going out as a couple as well. We do go out, but it’s not spontaneous and the outings are few and far between.

What are some of your greater accomplishments?

 Before the MD? The home and family I’ve established. And I’ve many close friends. In spite of the MD?  I’ve always had a “Bucket List” in my head of life goals. I have seen most of these materialize and come to pass. A few examples: Hire an architect and build our dream home (accessible as well). Read Les Miserables. Learn to solve a Rubik’s Cube. Take a train across the United States. See the Grand Canyon. There are dozens more, none of which were prevented because of my MD.

How has the MD influenced your life?

I am determined to identify my sub-type. I believe a genetic diagnosis will be critical in future treatments. I have created a Facebook group, “Muscular Dystrophy Subtype Unknown”, for MD patients who have been unable to achieve a genetic diagnosis.  https://www.facebook.com/groups/498452196969988/ I've over 200 members! I thought I'd get 25. The group is far more than venting and support. We share valuable resources and information with the goal that if one gets diagnosed, many others may benefit. This is my mission, my goal and my passion right now; to help as many of my fellow MD friends as possible and get myself and every one of them a diagnosis. I won’t give up on them even if I identify my own sub-type tomorrow.

What do you want the world to know about living with MD?

People with MD have the same hopes, dreams and fears as you. In our minds we run on the beach, walk barefoot in the grass, hike along a mountain stream. It takes a great strength of heart to not succumb to the imprisonment in our own bodies. Never take your body and legs for granted! Never take for granted getting up from a toilet, running an errand, hugging a loved one or holding a baby. Those abilities are a distant memory for me. But at the same time, our lives are SO MUCH MORE than healthy legs! Enjoy your family, a sunset, a good book, a thunderstorm, a bird in your backyard. Don’t be unhappy because your boss was crabby, you were stuck in traffic or your dinner got cold.

If you were cured tomorrow, what's the first thing you'd do?

I would thank God and the team of doctors and researchers that made it happen. Then I would hug everybody I love….hard and long. Then I would do a few of the things my wife and I love to do; dine out, travel, and walk in the sand holding hands.

Mark, you rock!  What a beautiful family!    

Reminders:

1.  I look forward to seeing some dear friends at the Patients Day:  http://events.r20.constantcontact.com/register/event?oeidk=a07ec2w5iro9f3fb126&llr=orxhodsab

2.  Clinical trials for Phase 3 Sialic Acid  is still recruiting:

 https://clinicaltrials.gov/ct2/show/NCT02377921?term=gne+myopathy&rank=7

3.  For Severe Ambulatory Patients the St. Louis, Missouri site is recruiting:  

https://clinicaltrials.gov/ct2/show/NCT02731690?term=gne+myopathy&rank=2