Recap of 2015 and Hopes For The Future for GNE Myopathy - A Cure Yet!

Dear friends, family, and readers:
Thank you for continuing to follow my blog and supporting me in various ways.  I appreciate your attention, communication, and friendship.  Ever since I started writing on 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 enable.
This year I have been fortunate to attend many functions of the Rare Disease  community. Ultragenyx and the Neuromuscular Disease Foundation (NDF) have sponsored patients' day at which I was able to meet and socialize with many patients. When I meet fellow patients, I am usually touched and inspired by the manner and grace they manage their challenges. The NDF hosted a Gala in Los Angeles to honor two  GNE myopathy researchers Dr. Argov and Dr. Rosenbaum. Many patients shared their experiences of what it is  like to live with this debilitating disease. 
This is the second year I have attended the Global Genes Symposium that is held annually in California.  I learned many research related details on the process of drug approval, patients' registries, and advocacy within the rare disease community.  This year was very productive because more patients were getting accurately diagnosed.  The Sialic Acid and ManNac trials are active clinical trials that are in full swing, and these are good reasons to celebrate!
Additionally, I have been working to increase the awareness of GNE myopathy, and I would especially like to thank  Ms. Dina Albanese from SmithSolve  who helped  me with this effort. She has been or sending out the story of my family to various web sites, and publications.  The latest publication of my story is featured in the Fall Newsletter of the Myositis Association.  Thank you Dina and SmithSolve for helping us in this endeavor.
My story is on page 11 of this newsletter. http://www.myositis.org/storage/documents/Newsletters/2015/web_-_TMA_Fall2015_Newsletter_SINGLE_PAGE_FORMAT_151027.compressed.pdf

http://smithsolve.com/about/

http://gne-myopathy.org/
I want also to congratulate our team in India (gne.myopathy.org) for successfully establishing their nonprofit status.  Our India branch sponsored a Disability Day by distributing flyers and giving presentation to various businesses and educational institutions.  Any patient or patient's group are welcome to become a member of  our international site. 

Gene Therapy:
Dr. Darvish and Associates are prepared to begin gene therapy Phase 1 and Phase 2 clinical trials for patients with GNE myopathy.  They have already filed a new Investigational Drug application with the FDA.  They have also been working tirelessly to secure five million dollars to begin these trials.  We expect this gene therapy to be more effective than the other treatments that are currently being developed.  Please circulate and forward this information worldwide to investors who may be interested in this venture.  For more information, contact Dr. Darvish at ddarvish@hibm.org.

Sialic Acid Clinical Trials:
Extended phase 2 continues.  This study is continuing to evaluate fifty six patients who are on  Sialic Acid tablets.  Data published previously on this group reported increased strength in  their upper extremities. This study is not recruiting new patients.

Phase 3:  This study is still recruiting patients with GNE myopathy in a trial for Sialic Acid tablets in  the U.S, Canada, United Kingdom, Israel, and many other countries. The researchers have changed the age limit to 55 from 50.  Please ruse  the following link to contact the recruiters.
 https://clinicaltrials.gov/ct2/show/NCT02377921?term=gne+myopathy&rank=3

ManNac or DEX-M74
The National Institutes of Health in Bethedsa, Maryland, U.S.A., has completed  the Phase 1 study with ManNac.
Here is some  information that researchers observed in Phase 1, which I think is quite encouraging:  "The intracellular localization of GNE and the sialic acid pharmacokinetics profile provide evidence that ManNAc (derived from oral DEX-M74) was metabolized intracellularly in subjects with GNE myopathy, a favorable location for this sialylation-increasing therapy. The fact that ManNAc concentrations returned to baseline within 12-24 h post-dose and sialic acid levels remained increased at least 48h after single oral doses of DEX-M74 allow for 1-2x daily dosing in future multiple dose studies."
http://www.neurology.org/content/84/14_Supplement/P7.061

Phase 2 ManNac (DEX-M74)
Phase 2 is still ongoing with fourteen patients being treated with ManNac. See the following link.
https://clinicaltrials.gov/ct2/show/NCT02346461?term=gne+myopathy&rank=2

New Link for Ultragenyx
Ultragenyx, the biopharma company conducting the Sialic Acid trials has a new link that will help patients, caregivers and doctors learn more about GNE myopathy, Please refer to this link.  http://gnemyopathy.com/about-us

I keep learning and growing from attending these educational and patients' day events.  I have met many patients with varied rare diseases, with challenges that make mine feel quite tiny in comparison to theirs. The inspiration or 'take away' I leave with from these functions is that we all are seeking a CURE.  With this desire we continue to travel far and wide to connect with patients, researchers, technologies in the fervent hope that a cure will be discovered. I look forward to meeting more of my fellow GNE myopathy patients and learning more about our disease in 2016.  Have a healthy year.

As Judy Garland would say: "Always be a first rate version of yourself, instead of a second rate version of somebody else."

“Life is like riding a bicycle. To keep your balance, you must keep moving.” - Albert Einstein

World Disability Day, Lunch with Dr. Argov, and Israeli Patients' Group Site

The United Nations will be observing The International Day of Persons with Disabilities (IDPD) on  December 3, 2015.  This day has been commemorated since 1992 to increase awareness of persons with disabilities worldwide.  Since gne-myopathy.org is an international organization that consists of families and patients with GNE-Myopathy, we are taking this opportunity to promote the awareness of our disease as well as its related disabilities.
Our team in India will be sending out posters to schools, colleges, and offices in the Delhi and Mumbai areas.  They will also post this poster on community bulletin boards.  In addition, there will be some planned presentations on the subject of disability.  These activities are supported by the generous contribution of World Without GNE-Myopathy-India (WWGM).  Please feel free to print this poster and distribute it within your community.

Poster

United Nations Site

http://www.un.org/disabilities/default.asp?id=1637

Dr. Argov will be visiting the New York area, and the Neuromuscular Disease Foundation is inviting patients, caregivers, and families to have lunch with Dr. Argov.  Please register as soon as possible.  Here is the link to the announcement and  further details.

Invitation

http://events.r20.constantcontact.com/register/event;jsessionid=9CC917B936EFD37080E7A0A71FFC131C.worker_registrant?llr=5ukeofsab&oeidk=a07ebv4201079e7718f

Israeli Patients' Group

GNE Myopathy patients in Israel have started a private Facebook support group. The group will communicate in Hebrew so that patients and families who are not fluent in English will have a better understanding of our disease. The group's goals are to support patients regarding their governmental rights,and will also discuss current  research, medical devices,and list relevant doctors. The Facebook support group will create a space where patients will feel emotionally supported, and  information about GNE Myopathy will be shared. The group will also strive to build a big lobby in Israel to increase awareness of our disease.  Therefore, if you are living in Israel and have GNE-Myopathy/HIBM or you are a relative or a patient, we encourage you to join our group. Please ask Maya or Mickey to add you.

https://www.facebook.com/groups/1544523909170865/

Compendium: NDF Black and White Ball, Rare Disease Report Short Video, GNEMP Newsletter, Israeli Support Group and Chinese Patients

The NeuroMuscular Disease Foundation (NDF) held their annual Black and White Ball, and Fundraiser  at the Beverly Hills Hotel in Los Angeles Ca..  There were approximately 400 in attendance.  I, along with other patients, attended this special event.  We were well entertained with comedian Tim Homayoun and the Master of Ceremonies Steve Mittleman.    Lale' Welsh, along with her staff, were very attentive to every detail of this evening.  A delectable dinner was served. 
This event was to honor Dr. Argov and Dr. Rosenbaum, and to raise funds for the research and cure of Gne-myopathy.  Jennifer Y., a fellow Gne-myopathy patient gave a very moving speech  Some patients also shared their experiences of what it is like living with Gne-myopathy. The flawlessly exquisite evening could not have been possible without Lale' Welsh (CEO), her staff, and  scores of NDF ambassadors who have worked to increase the awareness of Gne-myopathy. It is very remarkable that the love of a mother for her daughter has blossomed into the NDF and the community continues to nurture this love.

The Rare Disease Report made a short video of me speaking when I attended the Global Genes Summit recently.

https://www.youtube.com/watch?v=XrJUONgNhb8&feature=youtu.be

Here is a the most recent Newsletter from GNE-Myopathy Monitoring Program.  It is very informative and features  a Gne-myopathy patient from Brazil, foods rich in Sialic Acid, as well as the  various centers that are now recruiting for the phase 3 Sialic Acid trial. Please consider participating if you meet the criteria. Please refer to this link:
http://gnem-dmp.com/ht/a/GetDocumentAction/i/1681

Here is a link for the Israeli Gne-myopathy organization which I recently came across on the internet:
http://www.hibm.org.il/english/

I really think that getting accurately diagnosed is a big challenge for Gne-myopathy patients as my family has experienced first-hand.  In recent years, however it has become much more easier to get diagnosed which is done by a (buccal) saliva kit.  Recently,I have discussed an article that I thought would be useful to post this article again in the hope that more undiagnosed patients would consider getting tested for Gne-myopathy. This article states that "The unrecognized high prevalence of GNE myopathy (~ 40,000 patients worldwide; ~3000 patients in USA, instead of previously estimated ~ 400) confirms suspicions that many patients escape diagnosis".
Here is the link for the abstract:.
http://www.neurology.org/content/84/14_Supplement/P2.044

Finally, I understand that there is a large group of Chinese patients in Mainland China.  If you are a patient or doctor in China, Please contact some of the organizations working on treating and finding a cure Gne-myopathy.  Please reach out to me or go to gne-myopathy.org and access the flyer written in the Chinese language. Here is an abstract of 35 patients who were studied:   http://www.sciencedirect.com/science/article/pii/S0022510X15002385

Neuromuscular Disease Foundation Honorees Dr. Argov and Dr. Rosenbaum

The Neuromuscular Disease Foundation will be hosting a Black and White Ball on October 14th. to honor two doctors from Israel  Dr. Argov* and Dr. Rosenbaum**. These doctors have done significant work in the area of Gne-Myopathy.  The NDF will also have a fundraising at this event to help towards funding a cure for this disease.

Please share this link of the event to help us to increase the awareness and funding of Gne-Myopathy.
http://www.eventbrite.com/e/ndf-black-white-ball-2015-tickets-18175871521

 Professor Argov’s main focus of research has been in Jewish hereditary neuromuscular disorders. He first described the seminal features of GNE myopathy in Persian Jews in 1982. Thirty years later, in association with Dr. Stella Mitrani-Rosenbaum, they identified the gene defect in HIBM.  This prolonged collaboration has done much towards understanding the mechanism of GNE myopathy (HIBM) and in developing ways to treat it. 
 Dr. Mitrani-Rosenbaum is widely known for discovering the gene responsible for GNE Myopathy (HIBM) in 2001.  Her lab is now dedicated to research on this condition, and continues to study targets for potential treatment

Global Genes Summit, Huntington Beach, California, Video Lale Welsh (NDF), and Ultragenyx's Update on Phase 3 Sialic Acid Trial

 This is the second year I have attended this Summit.  If some of you remember, last year, it took me about 12 hours via ground transportation to travel to the summit; this year it took only seven hours. Timewise, I am making progress.  It was very educational and empowering.  It offered  me a way to network with researchers, doctors, policy-makers, and patients in the rare disease community. For those who were unable to follow the live feed or find it too daunting a task to sift through the many presentations I have summarized the information that I think would be of interest to Gne-Myopathy patients. I trust this summary will clarify what was presented.

 Lale Welsh Executive Director (NDF)
Ms.Welsh is from the Neuromuscular Disease Foundation. NDF funds scientists working on Gne-Myopathy, helping patients with screening, and  testing. Here is a brief video of Ms. Welsh summarizing  the symptoms, potential treatment, and testing  associated with  Gne-Myopathy. Thank you Ms.Welsh for focusing the spotlight on our disease. Here is the video link:
https://www.youtube.com/watch?v=pYa8qWz6_p0&feature=youtu.be
For more information  about the Neuromuscular Disease Foundation site please follow this link
http://www.ndf-hibm.org/

 Dr. G. Rao, Director  of Orphan Products Development, The Food and Drug Administration (FDA)
 Her presentation was focused on the FDA's  partnering with patients. A secondary focus was the pharmaceutical companies and  drug development.  The FDA would like more input from the patient community. She listed some areas where patient and/or patient organizations need to focus.  first and foremost that would include (1) Create a robust patient registry;  (2) Educating ourselves about the FDA regulatory process;  (3) Partnering with industry in areas where patients can help to design trial studies, and, (4) Participating in the FDA Advisory Committees to help them with clinical trials and related input on drug development.  Here is the link for FDA by which a patient can apply to become a Patient Representative. Patients are encouraged to apply to be on the advisory team. Patients are essential in helping to bring effective drugs to the market,  check out these links for more information.
 http://www.fda.gov/forpatients/about/ucm412709.htm
FDA patient network:  http://www.fda.gov/forpatients/about/default.htm

Dr. P.J. Brooks, Ph.D.  fromThe  National Institutes of Health (NIH)
Dr. Brooks stated that there are 7,000 rare diseases that are molecular based for which there are only 500 approved therapies . He also mentioned that it takes approximately $350 million to get a drug to market. Dr. Brooks also mentioned the various institutes associated with the NIH.  Currently, a team led by Dr. N. Carrillo is conducting a phases 1 and 2 trials for Gne-Myopathy using ManNac (DEX-M74) The link for this study:
https://clinicaltrials.gov/ct2/show/NCT02346461?term=gne+myopathy&rank=2

David Glazer, Director of Engineering, Google, and Dr. A. Philippakis from Broad Institute 
They discussed about building a super-platform through which patient groups and the research community would collaborate on storing genomic information. This  will enable scientists worldwide to access and share data. Through this platform they could readily study the natural progressionand history of rare diseases, which would speed up more effective therapies.  Google is looking to do a trial using this platform with three patient groups.  I think this is a great way to speed the discovery of cures. However, we need to be cautious about privacy issues and their related repercussions. Google has partnered with The Autism Speaks MSSG. Here is the link:
https://www.autismspeaks.org/wordpress-tags/google-and-autism-speaks
https://www.autismspeaks.org/site-wide/google


Screening of  The Movie "The Lion's Mouth Open":

We were able to view this documentary and to ask questions from the filmmaker Marianna Palka, who is living with the devastating illness of Huntingtons Disease.  Ms. Palka showed such strength when she received her diagnosis.  This is a heart-wrenching documentary.  She has inspired  and energized me to continue my effort to advocate and spread the awareness of Gne-Myopathy. If I ever feel pity for myself, I plan to watch this movie yet again  because my condition is not nearly as severe as those who suffer from Huntingtons Disease.

Ultragenyx's Sialic Acid Phase 3 Update.  Please read this updated flyer and consider participating in this trial.
http://www.ultragenyx.com/file.cfm/20/docs/GNEM%20Update%20Brochure%204-Page%20Rev%2015.pdf

Global Genes:https://globalgenes.org/

I look forward to next year's summit, and I hope some of my fellow Gne-Myopathy patients will join me.

Flyers and Patients Stories on Website gne-myopathy.org

The GNE Myopathy website was started a little less than a year ago by a group of patients and family members. We formed this site with the hopes of generating increased awareness for Gne Myopathy, and to collaborate with patients and researchers on finding a cure for our disease.
We have continued to increase the awareness among patients, and to some extent within the medical communities; however, much work needs to be done.  Fellow patients are helping us by disseminating flyers in their respective countries.  These flyers list the signs and symptoms of Gne-Myopathy and have been translated into fourteen languages by native speakers of these languages.  These flyers are available for download from the http://gne-myopathy.org/ website.  We also invite patients to share their stories and would sincerely like to thank Roberta and Liraz for sharing their stories of the various challenges that  Gne-Myopathy presented in their young lives.
This first story is done in a Question/Answer format.

Roberta Living with GNE Myopathy from Turkey

Q. How long have you had GNE Myopathy?
It’s been 8 years now
Q. When and how were you diagnosed? 
My symptoms came out very quickly. Until i was 25, everything was normal; I could do everything until November 2007. First I started to be late to work, I couldn't understand myself my friends were seeing me on the way and they were asking "are you all right? Why are you walking lame?"  Then in 2 weeks I came home late and was climbing the apartment stairs like creeping.. my dad saw this and thought I had something wrong with my bones (like hip dislocation), I had an x ray, nothing was wrong then they send me to a neurologist, she told I could be MS (multiple sclerosis), I’ve seen the MS doctor and she sent me to neuromuscular professor. Then she wanted some tests like EMG, biopsy just to be sure about the disease.

For more information on Roberta's story, please visit:   

  http://gne-myopathy.org/our_stories.html                                                                                                        

Living With GNE Myopathy from a Young Age


My name is Liraz and I was born on April 2nd, 1994 in Kiryat Yam, Israel. I was diagnosed with HIBM at the age of 17, in April 2011. My parents are first cousins, both are Persian Jews. So far, I am the first, and hopefully remain the only case of this disease in my entire family. I also have an older sister (24 years old) and twin brother and sister (13 years old).

For more information on Liraz's story, please visit:
  http://gne-myopathy.org/our_stories.html

Patient Advocacy Symposium Held by the Neuromuscular Disease Foundation; ManNac,Sialic Acid, and Gene Therapy

     The second annual Patient  Advocacy Summit took place at  the University of California in Los Angeles, California on the 29th. of August, 2015. It was organized by the Neuromuscular Disease Foundation (NDF). (a)  The NDF's purpose is to facilitate  the global effort to cure Neuromuscular diseases.   Ms. Lale Welsh, its executive director, and her staff were very conscientious in planning for, and for meeting the unique needs of, our gne-myopathy patient group.   
     Ms. Welsh paid very special attention to our name tags, which consisted of a loop that was easy to be placed around our necks rather than a clip, which would have been difficult for some patients to put on.  Ms.Welsh also made sure that the tables were set at the proper height to facilitate wheelchairs, besides making sure that the conference room would have ample space for such wheelchairs to navigate the aisles.  Generously, the NDF offered travel and accommodation scholarships to patients and made provision for whatever else was needed. Ms. Welsh also ensured that the facility had enough roll-in shower stalls for those who needed to use them.  In addition, she assisted with the "drop-off" and "pick-up" of wheelchairs and scooters that the Muscular Dystrophy Association provided for patients.
       Since I was diagnosed in 2011, I have made an effort to meet as many of my fellow patients as possible. Other than my siblings, I especially remembered a first-time meeting I had with another patient in Sacramento, CA. Both Liz Singh-Juarez and I felt an immediate bond, this bond; it was one of understanding, empathy, and hope, since we both know the trials that this progressively weakening disease had given us. We were thus able to relate as if we had known each other as long time friends. Before meeting gne-myopathy patients outside my family, I felt as if we were the only ones with this weird-looking condition,the waddling gait, the splaying out of our knees and elbows, and of the way we had to hold objects and climb stairs.
     Gne-myopathy presents not only great challenges, it gives us great gifts as well, and these gifts were quite special indeed. I realized I have this disease in common with many talented young as well as older friends. These friends are the most kind, compassionate, intelligent, and positive persons I have ever met.   
     The presenters of this symposium  are well known doctors and researchers who have been doing gne-myopathy research for quite some time. The event opened by Jennifer, Y. giving a brief history of the NDF.  Dr. N. Carrillo from the National Institutes of Health, Bethedsa, Maryland, discussed  the ongoing ManNac trial.(b) The preliminary data of this trial suggests that ManNac is entering the relevant cells and is maintaining sustained levels. This study has completed its 90-day trial period and is projected to continue for  nine more months with the same twelve patients.  No major side effects just minor gastrointestinal issues have been reported.  If plans go as anticipated, the hope is for the ManNac trial to be extended and to be set up at more centers.
     Dr. P. Shieh, MD, Ph.D., from UCLA and Dr. A. Skrinar from Ultragenyx  presented the results of  the extended Phase 2  Sialic Acid study in which they have generally noticed increased strength in the upper extremities.  Their conclusion in "48-Week clinical data suggests that 6g/day SA‐ER has a statistically significant and clinically meaningful effect of stabilizing upper extremity muscle strength in GNE myopathy patients." (c)
   Ultragenyx is currently recruiting for Phase 3 trials worldwide. (d)  Some centers have started dosing patients whereas others have not yet opened up for recruiting.  Some patients will be on placebo and some will be dosed with Sialic Acid, i.e., a double blind study, means that neither your clinic doctor nor yourself will know if you are receiving the Sialic Acid or the placebo.  
     We, then transitioned to a very delicious Hawaiian-themed lunch along with the music. After lunch the patients went to a separate room from the family members so that the patients were able to privately and  freely discuss with other patients what it is like to live with gne-myopathy.  This session was led by Dr. Caughlin.
     Dr. D. Darvish, a fellow patient and researcher of gne-myopathy, attended this event as well.  Some of us were able to meet with him, and we learned that he and his group are working on starting up a gene therapy trial once they are able to secure funding. (e)
     About twenty patients plus many family members attended this event.  Although our ages varied, as did our cultures, our skin color, and the way we walked, looked or held items: we all came together to listen to the doctors and researchers. We came together as one group of patients in the hope that we might inspire, motivate, and instill a sense of urgency to the experts who are researching gne-myopathy, that they might find a cure for us, our offspring, and for the future generation.

**Note Please fellow travelers on the gne-myopathy road, let us get involved,  whether it is in committing to support The Natural History study at the NIH, the GNEM-DMP-on-line site, or one of the trials: as Dr. S. Kurdestani from UCLA mentioned that researchers are continuing to find new information about gne-myopathy on a recently tested group in Iran (Data will be published later).  Since, ours is a rare disease, and there are limited number of patients, the more information experts are able to collect, the better insight they will have in procuring treatments and therapies. They need more patients to get involved and we need to do our part in helping the researchers. Please refer to the links below for additional information.
***A recording of this Symposium will be posted online soon.

Links:
NDF
(a)http://www.ndf-hibm.org/
NIH
(b)https://clinicaltrials.gov/ct2/show/NCT02346461?
term=gne+myopathy&rank=2

ULTRAGENYX DATA ON THE 48 WEEKS' STUDY
(c)http://www.ultragenyx.com/file.cfm/22/docs/Phase%202%20and%20Extension%20Study%20of%20SA-ER%20in%20GNE%20Myopathy.pdf

ULTRAGENYX WORLDWIDE PHASE 3 RECRUITMENT
(d)https://clinicaltrials.gov/ct2/show/NCT02377921?term=gne+myopathy&rank=3

DR DARVISH
(e)https://www.hibm.org/arm/

GNEM-DMP ONLINE SITE/QUESTIONNAIRE
(f)http://www.gnem-dmp.com/?gclid=COXlqZem4ccCFY9hfgodqqsOfw

Meeting Congressman Sam Farr - Twenty First Century Cures Act

     

One of my enduring missions is to increase the awareness of GNE myopathy worldwide amongst the general public, governments, and non-governmental organizations. In keeping with this mission, I seek out opportunities through which I can educate, inform, and increase the awareness of our rare disease.

This week I was quite fortunate to meet with the Honorable Sam Farr, a Congressman of my district, the 20th. Congressional district of California.   He is very well liked by his constituents and has been serving my district since 1993. My intention to meet Representative Farr has been long in the making, since 2012 I have wanted to discuss with him the challenges of patients with rare diseases, and to ask for him and his colleagues to support to legislation that would help speed up therapies and treatment for our patient population.

In 2012, on one of my visits to the National Institutes of Health (NIH), a fellow gne-myopathy patient (Debbie Scott) and I arranged to meet with Rep. Farr at his office in Washington D.C. Unfortunately, the Congressman was not able to meet with us at that time as he was called upon to defend a bill in the Congress. However, we were able to meet with his Chief of Staff with whom we discussed rare diseases specifically, gne-myopathy. We also asked for his office to support increased funding for the National Institutes of Health.

As a side note, about 25 years ago my husband unexpectedly passed away, and I was left to raise my two very young children. I had no family living close to me, and as my husband was the one dealing with the financial aspect of our lives, I felt quite lost as to how to manage the financial maze, not to mention the emotional turmoil that resulted from this profound loss. I was dealing with. Fortunately, soon after my husband died, I received a call from our Congressman's wife (Shary),who requested to meet with me. I did not know who she was at the time and why she had volunteered to help me.

Nevertheless, I met with her. I remembered that she poured over all my financial documents. After she assessed all the information I presented to her, she advised me on how to manage my finances, and, then further assisted me in filing all necessary documents. Over the years, I have often reflected on her kindness, and I undoubtedly believe without her help I would have experienced far heavier financial difficulties.

Both Rep. Farr and his staff were very welcoming and attentive to my needs at this meeting. I am very encouraged to see their broad awareness and understanding of the various challenges facing patients with rare diseases. We discussed the 21st. Century Cures Act which was passed overwhelmingly by the Congress, and is now before the Senate Should the Senate pass the 21st. Century Cures Act it would be a win-win for rare diseases and would provide increased funding for the NIH.

There are several important parts of this bill for that would benefit the rare disease community including : (1) enhancement of the drug development process by including patient perspectives....," and, (2) the increase for funding to the National Institutes of Health.

I kindly requested Rep. Farr for his support to this bill, and other rare diseases legislation that may come before the congress. In addition, I asked Rep. Farr to consider joining the Rare Disease Caucus.

I was surprised to learn that Rep. Farr introduced a bill titled "Exercise And Fitness For All Act" which included very important provisions for persons with disabilities. These provisions included (1) "to encourage exercise and fitness service providers to provide accessible exercise and fitness equipment for individuals with disabilities; and (2) to provide guidance about the requirements necessary to ensure that such exercise and fitness equipment is accessible to, and usable by, individuals with disabilities." My hope is that this bill will return for a vote and will be passed, as exercise is very crucial for the health and well being of those in the rare diseases community.

*I would like to express my sincere gratitude to Rep. Farr for meeting with me and for listening to my story, the challenges that rare disease patients are  living with. Also, I would like to thank Mr. A.Russel and his staff from the Everylife Foundation for their guidance and coordination for this meeting.

Link for the 21st Century Cures Act

https://www.congress.gov/bill/114th-congress/house-bill/6

Link for Exercise and Fitness for all Act
https://www.govtrack.us/congress/bills/113/hr5541/text

Addendum:  I am pleased that the genetic disease gne-myopathy is getting more attention.  Another site has posted my family's journey with this disease.  Here is the link:
 http://www.raredr.com/news/the-long-journey-to-a-gnem-diagnosis

For more information on gne-myopathy, including resources, support groups and research, please visit: http://gne-myopathy.org/

Health News Digest Article On My Family's Medical Journey

This is brief article on my family's attempt in getting a definitive diagnosis. I am always thinking of ways we can increase the awareness of gne-myopathy..  In addition to this article, we (gne-myopathy.org) have been contacting doctors, researchers, and organizations worldwide to inform them about gne-myopathy, and requesting them to share a list of gne-myopathy resources with their patients.   I would especially like to thank all the patients, and others who have  helped with the translations of the "signs and symptoms" flyer. These flyers have been very useful to those who have difficulty understanding English.  These flyers can be downloaded from  http://gne-myopathy.org/

(HealthNewsDigest.com) - Imagine you have a very active life as a mother and professional. Then suddenly, inexplicably, something changes. You become weak. Everyday tasks become harder to complete. Moving becomes difficult. Multiple trips to the doctor do not provide immediate answers or solutions. And to make matters even worse, your siblings display the same symptoms. This is my story.

My family's medical journey began more than 40 years ago. Over the course of that time, my siblings and I suffered from the same symptoms. We set up appointments with our physicians and participated in several tests and studies in search of a diagnosis. The question no one could accurately answer: why is this happening?

I

Please refer to the link for the complete article.

http://www.healthnewsdigest.com/news/Research_270/Solving-a-40-Year-Medical-Mystery.shtml

The Jain Foundation, Patients' Day at UCLA, Updates, Flyer of GNE-Myopathy in Chinese And Arabic

The Jain Foundation

The focus of the Jain Foundation is to cure Limb Girdle Muscular Dystrophy (sub-type2B) which is deficient in the protein dysferlin .  The foundation is actively involved in educating patients and collaborating with scientists in finding a cure.  In addition, the Foundation helps patients  to obtain a more accurate diagnosis.  Many GNE-myopathy patients were originally either undiagnosed or misdiagnosed.  Some patients were misdiagnosed with LGMD  for years before they were correctly diagnosed. Currently, however, the Jain Foundation, in partnership with other organizations of LGMD patients  is offering free genetic testing to patients in the United States.  GNE-myopathy is included in part of the genetic testing panel.  For those who are still looking for a more definitive  diagnosis and may have been placed in the wide category of muscular dystrophy, here is the website that offers a diagnostic program.    https://www.lgmd-diagnosis.org/free-genetic-sequencing

A Day For GNE Myopathy Patients

On August 29th. 2015, the Neuromuscular Disease Foundation will be hosting its second GNE Myopathy Patient Advocacy Day at the University of California, Los Angeles, California.  The conference includes speakers who are experts in the field of GNE myopathy.  Experts will focus on potential treatments, advancements in gene therapy and ways that patients can become involved.  Travel scholarships are being offered.  For more information, please contact  lwelsh@ndf-hibm.org
http://events.r20.constantcontact.com/register/event?oeidk=a07eb5sfj83197fa377&llr=5ukeofsab

Updates

1.  The National Institutes of Health is currently conducting the ManNac (DEX-M74) trial Phase 1/Phase 2.
https://clinicaltrials.gov/ct2/show/NCT02346461?term=gne+myopathy&rank=2

2.  Ultragenyx is recruiting for Phase 3 of Sialic Acid Immediate and Extended Release tablets.  This study is being conducted in the United States as well as other countries. and  the goal is to enroll up to 80 patients.
https://clinicaltrials.gov/ct2/show/NCT02377921?term=gne+myopathy&rank=3

3. If you have not yet registered please visit the GNEM  monitoring site to input your information.  Remember, we are a rare group, and the researchers will need more information about ourselves to develop an effective treatment and cure. Each one of us can be part of the solution, http://gnem-dmp.com/ht/d/Home/pid/1158

Flyers In Chinese and Arabic Languages

Translations of our original flyer which lists the early signs, and symptoms of GNE myopathy are included in this post ( the Chinese translation by Min Lin, and the Arabic translation by Abdullah A.). These flyers can also found on gne-myopathy.org

Chinese
GNE 肌病，通常又被称为遗传性包涵体肌病、Nonaka 肌病、伴镶边空泡的远端性肌 病 (DMRV) , 和股四头肌不受累的空泡肌病等。其多在成年初期开始显示症状。首发 症状通常表现为肌无力，并最终恶化至全身瘫痪。正常的 GNE 基因能帮助人体产生一 种对肌肉功能和其他活动具有重要作用的糖（唾液酸 sialic acid）。GNE 肌病患者的 患者 GNE 基因存在缺陷。GNE 肌病是一种常染色体隐性遗传性疾病，这意味着每位 患者从父母每方遗传获得一个有缺陷的 GEN 基因。 GNE 肌病国际中心（GNE Myopathy International，GMI）旨在帮助新近确诊或 尚未被正确诊断的 GNE 肌病患者，协助他们获得维持高质量生活品质的必需资源。目 前有两种针对 GNE 肌病的药物正在临床试验中，因此尽早获得准确诊断至关重要。 欲进一步获取详细信息，请访问我们的网页：gne-myopathy.org。 主要初期症状表现有： *足下垂、脚趾碰地 *失去平衡、频繁跌倒 *腿部、手臂、手、臀部及肩部无力 *腿部抽筋、脚筋疲软 *无法跑步或上楼梯 *难以靠脚趾或脚后跟站立 请联系您所在国家的专家，或发送电子邮件至 gne.myopathy@gmail.com。欲进一 步获取详细信息，请访问我们的网页：gne-myopathy.org。您可将此页翻译为其他 语言，与相关医生及任何有上述症状人士分享。

Arabic
HIBM عٌرف بأسماء مختلفة مثل :مرض )الاعتلال العضل الوراث للجسم GNE الاعتلال العضل الج نٌ
او اعتلال نوناكا واسماء اخرى عد دٌة. )Hereditary Inclusion Body Myopathy
المرض ظٌهر ف المراحل المبكرة للبلوغ وعلاماته تبدأ بضعف ف العضلات تصل بالشخص الى الإعاقة ف نها ةٌ
المطاف .
من )GNE ( عٌتبر هذا المرض مرض وراث متنح وهو ما عٌن ان الشخص حٌصل على نسخة واحدة مع بٌة من ج نٌ
الام والأب .
محفز لعمل العضلات )sialic acid ( الطب عٌ ه مساعدة الجسم على جعل سكر الحامض اللعاب )GNE( مهمة الج نٌ
ف الجسم ووجود نسخة مع بٌة من هذا الج نٌ هو ما سٌبب المرض.
نحن مجموعة توعو ةٌ نطلق على أنفسنا ) المجموعة الدول ةٌ لمرض الاعتلال العضل الج نٌ ( ، مهمتنا ه مساعدة
المصاب نٌ بهذا المرض او المحتمل إصابتهم به ، ح ثٌ ندعمهم بالمصادر الضرور ةٌ لجعل ح اٌتهم منتجة و مثمرة .
)gne-myopathy.org( لمعلومات اكثر نرجو ز اٌرة صفحتنا الالكترون ةٌ
)GNE ( بعض العلامات والأعراض لمرض الاعتلال العضل الج نٌ
* انخفاض القدم وملامسة أصابع القدم للأرض .
* فقدان التوازن والسقوط المتكرر .
* ضعف الساق نٌ والذراع نٌ وال دٌ نٌ والورك نٌ والكتف نٌ.
* عدم القدرة على الجري وصعود السلالم .
* الصعوبة ف الوقوف على أصابع القدم والكعب .
أرجو مشاركة هذا المنشور مع الأطباء والمرضى الذ نٌ شٌعرون بهذه الأعراض .
كما نرجو الاتصال بطب بٌ متخصص ف أمراض الاعتلال العضل او التواصل معنا عن طر قٌ موقعنا الإلكترون gne.myopathy@gmail.com

Help Us Spread The Awareness of GNE Myopathy Worldwide - Do Not Underestimate The Power of One Small Action

                              

We envision a world where myopathies will not impede human aspirations, and where patients, and researchers collaborate on finding a cure for GNE Myopathy

We (patients and family members) are attempting to reach patients in all parts of the world who have been diagnosed with Gne-myopayhy  or are experiencing early signs of this disease. We are kindly asking for your help to translate this flyer into your language, print, and share with doctors,  family members, and other patients.   

**We currently have this flyer translated by patients, and other translators in Arabic, Chinese,French, Hindi, Italian, Farsi , German and Japanese with more languages to be added.  Please contact me if you need a flyer in your language and I will send it to you.

                                                   

                                                                  FLYER

    GNE Myopathy is known by different names such as Hereditary Inclusion Body Myopathy(HIBM), Nonaka Myopathy, Distal Myopathy with Rimmed Vacuoles (DMRV) or Quadriceps Sparing Myopathy and other names. The disease manifests itself in early adulthood. It begins with muscle weakness and ultimately makes the person totally disabled.  It is a recessive genetic disease which means that a person gets one defective copy of the GNE gene from each parent.  The normal GNE gene helps the body to make a sugar (sialic acid) important for muscle function and other activities.

We at GNE Myopathy International (GMI) are dedicated to helping patients with this disease, those who are recently diagnosed, or ones who are yet to be diagnosed, and assist them with finding the necessary resources to make their lives productive and fulfilling. It is very important to get diagnosed early as there are currently two medicines on trial for this disease.  For further details please visit our website (http://gne-myopathy.org/).

Some early signs and symptoms of GNE Myopathy:

*Foot drop with toes stubbing the ground

*Loss of balance and frequent falls

*Weakness in legs, arms, hands, hips, and shoulders

*Cramps in legs, weakness in the hamstrings

*Inability to run or climb stairs

*Difficulty standing on toes or heels

Please feel free to translate this page into your language and share with doctors and anyone with these symptoms.

Please contact specialists in your country, or email us at gne.myopathy@gmail.com

                       Please allow to post this in your clinic/community notice board.

                                 

Here is the Japanese version of the flyer - credit to Yoshio, S.

GNE ミオパチーは、遺伝性封入体ミオパチー(HIBM)、埜中ミオパチー、縁取り空胞を伴う遠位型ミオパチー(DMRV)、四頭筋スペアリング・ミオパチー(QSM)などの異なる名称で知られており、成人早期に顕在化する病気です。その症状は、最初に筋力の低下から始まり、最終的には寝たきりとなります。この病気は劣性遺伝病、すなわち患者は両親のそれぞれから受け継いだ GNE 遺伝子の欠陥因子が二つ揃った場合に起きる病気です。正常なGNE 遺伝子は、人体が筋機能やその他の活動にとって重要な糖分（シアル酸）の生成を助けるものです。

我々、 GNE ミオパチー・インターナショナル(GMI) の目的は、最近この病気と診断された患者、あるいは正確な診断を必要とする患者の救済に全力を尽くすことにあり、さらに患者が満たされ充実した人生を送れるために必要な情報源を見つけるための援助をすることにあります。

この病気には、２種類の薬が臨床試験中でありますから、早期に診断を受けることが非常に重要です。この詳しい情報は、ウェブサイトをご覧ください  (gne-myopathy.org).

 GNE ミオパチーの初期の症状と特徴:

*垂れ足（つま先が上がりにくく、つまずきやすい）

*バランスを失い転びやすい

*足、腕、腰、肩の力が弱くなる

*足の痙攣、膝の後ろの筋力が弱くなる

*走ること、階段を昇ることができない

*つま先や踵で立つのが困難

このような症状のある方、および医師にこれを見せてください。

地域の専門家、またはgne.myopathy@gmail.comにメールでご相談ください。

このパンフレットを診療所などの掲示板に貼らせてください。

Ultragenyx Announces Global Phase 3 Study of Aceneuramic Acid (Sialic Acid) for GNE Myopathy

Ultragenyx is launching Phase 3 trial of Sialic Acid tablets to treat GNE myopathy.  The name Sialic Acid  has now been changed to "aceneuramic acid" one of its multiple chemical names. Participants will be either on a placebo or on aceneuramic acid extended release  tablets(Ace-ER). This study is designed to recruit eighty patients worldwide.  Clinicaltrials.gov site as of this blog states "not  yet recruiting", however patients who are interested in participating may want to call the site in their respective country. The countries listed are the United Kingdom, United States, Canada.  I also see France, Italy, Israel,and Bulgaria I am unsure of the status of these countries.  Please refer to the  links for this posting from Ultragenyx, and the clinicaltrials.gov below.  Please feel free to contact me if you have any questions or need assistance.

http://www.ultragenyx.com/ht/a/GetDocumentAction/i/45418

Contact Ultragenyx Pharmaceutical Inc. Investors & Media Robert Anstey 844-758-7273 Ultragenyx Announces First Patient Enrolled in Global Phase 3 Study of Aceneuramic Acid (Sialic Acid) Extended Release in GNE Myopathy Novato, CA — May 28, 2015 —


https://clinicaltrials.gov/ct2/show/NCT02377921?term=hibm&rank=4

Contacts

Contact: Kim Mooney	415-483-8872	kmooney@ultragenyx.com

Locations

United States, California
University of California, Irvine	Not yet recruiting
Irvine, California, United States, 92697
Contact: Brian Minton    714-456-8520    bminton@uci.edu
Principal Investigator: Tahseen Mozaffar, MD
Canada, Ontario
McMaster University	Not yet recruiting
Hamilton, Ontario, Canada, L8N3Z5
Contact: Erin Hatcher    905-521-2100 x 76929    hatchere@hhsc.ca
Principal Investigator: Mark Tarnopolsky, MD
United Kingdom
The Newcastle upon Tyne Hospitals	Not yet recruiting
Newcastle Upon Tyne, Tyne and Wear, United Kingdom, NE1 4LP
Contact: Oksana Pogoryelova, PhD    +44 (0) 191 2418640    Oksana.Pogoryelova@newcastle.ac.uk
Principal Investigator: Hanns Lochmuller, MD

Devices Currently Being Used by Persons with Gne Myopathy

The patients from our Gne-Myopathy support group on Facebook have listed the type of assistive devices they currently use.  These devices assist them in mobility, independence, and to maintain safety while maneuvering life's daily activities.We have summarized their experience, impression, and suggestions. It is possible that experience may vary from person to person using the same device. We want to graciously thank them for their input. This information could also be sourced at our website: gne-myopathy.org under the "Support Community" tab.

A number of companies (such as Ossur, Ottobock) make a variety of devices that are designed for people with different needs. There are also smaller companies which are able to customize some of the ready-made devices to suit individual needs.

 http://www.phatbraces.com/patients.phphttp://dynamicbracingsolutions.net/

Orthoses, Ankle Foot Orthoses (AFO’s), Braces

These equipment assist persons who have GNE-Myopathy with better stability, gait, balance, and help to lift up the toes.

Swedish AFO: These do not appear to restrict while walking or turning and or driving a car. There is a possibility that the experience may differ from people to people. It is important to get the right shoes with these. One can wear them with sketchers, trainers and converse, anything that comes up higher on the back of the heel. 
http://www.alimed.com/freedom-swedish-afo.html

Push Aequi Ankle Brace: This has been used during exercises and walking around the house. It can be worn over the socks and best results are obtained with closed shoes.

Toe Off Brace from Allard: It is quite comfortable and one can use it during driving. 
One of the patient, who uses this is 5'8” tall and is able to walk. She wears size medium as it comes up higher on her leg and gives added balance when standing still. One can climb steps with handrails and low incline ramps with these braces. The downsides are: they don't fit in all shoes/sneakers and all shoes need removable insoles. The foot plate cracks after six months, and one needs a cane or some assistance on steep inclines.

Ossur AFO Light: These have been found to be quite comfortable and it is easier to find shoes that fits these devices. 
http://www.ossur.com/.../ankle-foot-orthosis/afo-light

Walk-On: In general the experience has not been good during negotiating stairs, and for driving with these devices. One reason suggested by a patient is the experience of feeling restrained when one attempts to push down on the pedal. Patients find it difficult to climb stairs and negotiate inclines as these braces do not give enough support. On the other hand, some people have used these for many years. It does take some time to get one’s balance right as they feel unsteady with them at first because of the "spring" it adds to one’s step. If you do not use a cane or walker, you may want to use one just while your gait adjusts to the new braces.
 http://www.ottobockus.com/.../solutio.../ankle-brace-walkon/

Boxia Ankle Brace: It is also being used by patients and generally has been found useful for walking. https://www.chaneco.co.uk/orthotic-product.asp?prodId=324&specialoffer

OttobockDyna Ankle: It gives support but does not give the 'push' to clear the ground as other AFO's do.  http://www.ottobock.com/cps/rde/xbcr/ob_com_en/646A147-GB-01-1102w.pdf

Canes, Crutches,Walkers, Rollators, and Wheel Chairs
Some of these aids are highly useful in keeping people with GNE Myopathy mobile, and as independent as possible for them to carry on their daily activities. Again, experience vary from one individual to another, and one has to try out different ones to find out which would be the best. 
Many patients find using a walking stick helps them to walk safely. One patient finds a forearm crutch useful in walking on a level area. Another, found a palm grip walking stick more useful. It gives full support to the palm which helps in keeping hand and palm in alignment, and does not slip while walking. The stick comes customized for either left or right hand. The forearm crutch gives extra support to the elbow. 

Rollators: These can be highly useful for some specific activities, such as getting from a car to a class, or office. The patient is able to sit on the seat when tired and also can carry belongings in the basket. This rollator below is wide enough to accommodate the wider gait associated with GNE Myopathy. It gives added stability, balance, and helps one to safely walk longer. 

http://www.amazon.com/Cosco-Ability-Care-Traveler-Rollator/dp/B0008ENS98/ref=sr_1_cc_2?s=aps&ie=UTF8&qid=1431395663&sr=1-2-catcorr&keywords=cosco+travel+rollator

Wheelchair: These are used quite extensively by patients with different types of disability. Many people use these only for specific purpose, generally during travelling, sightseeing or shopping. Although, the wheelchairs can handle uneven path, it is difficult to use them on un-surfaced, and rough roads. There are two types of wheel chairs, manual, and electric/battery powered. Generally manual ones will require assistance for locomotion.

Lightweight and can be dismantled and fitted in a car. 
http://www.spinlife.com/Invacare-At'm-Take-Along-Travel/-Portable-Power-Wheelchair/spec.cfm?productID=73503

http://kdsmartchair.com/

Additional Assistance
A yoga belt has been found to be useful by a patient when she travels on planes or have to stay in a hotel. This helps to keep the knees together so they are not splaying out to touch other passengers. The yoga belt can also be useful to lift legs up if a hotel bed is higher than what one is used to.

It is advisable to consult a physio-therapist or suggestions in choosing the appropriate devices.  The scientific way is to analyse gait with and without different devices and choose one that gives you the best  result. Walking gait analysis is offered only in a few places that specializes in motor neuron disorders. 

Here are some centres and resources where gait analysis are being researched:

The Gait and Clinical Movement Analysis Society - The mission of GCMAS is to improve functional outcomes and quality of life for individuals with any movement disorder or at any age.

http://www.gcmas.org/about

European Gait analysis:
http://www.esmac.org/

This is a very informative blog site on gait analysis and lower limb bio mechanics.
http://wwrichard.net/blog/