A Summation of 2014 Progress for GNE-Myopathy and Outlook for 2015

I want to extend my sincere appreciation to my readers, family, and friends from around the globe for reading and following my blog. I am truly fortunate thank you. I am still persevering on the path to stay physically independent,  though I have stumbled a few times, have gotten back up, have dusted myself off, and remain ready to heal myself from gne-myopathy.

Many developments in regards to research, clinical trials, and registration of patients  have taken place  in 2014,  and more of these will continue on in 2015.  Our disease is getting more and more attention, and I believe that we are on the cusp of hopeful outcomes.  As patients however, we need to actively participate  in trials, registries, and  natural history studies as the researchers need patients for data, and to test new therapies.. We can make change whether it is collaborating on funding or finding a cure; each one of us need to participate. Remember, we are rare, not many of us are "walking" around therefore, the registries, researchers, and doctors need our participation.

Earlier this year, along with some patients, family members, and I have set up a website.  Our aim is to generate awareness of gne-myopathy by reaching out to patients, family, and doctors worldwide, especially to patients in under-served communities.  Please visit our website, it is near completion, and send me any suggestions on how we may help patients/communities around the globe.  Here is the link:     http://gne-myopathy.org/index.html

Some Upcoming Events in 2015

1.  In January there will be a conference in  the Great Neck area of New York State.  I urge patients living in this area to attend. Check out this link as it lists the agenda, the presenters, and contact information.
 http://www.ndf-hibm.org/index.php/component/content/article?layout=edit&id=14


2.  In February 2015 there is a week set aside for people with rare diseases. The rare disease community will be having workshops and presentations all over the United States. In particular, there will  a symposium in San Diego on February, 27-28  which is mainly dedicated to present research and discussion about  gne-myopathy.  The researchers plan to meet with patients afterwards.  I am very interested and will be attending.  Please register for both days especially the "Doctor-is-in".  Here is the link.   http://www.sanfordburnham.org/research/programs/genetics/symposium/Pages/2015.aspx

Data from Ultragenyx:
Ultragenyx, the biopharma company that is conducting the extended phase 2 trial on sialic acid, presented their findings in October, 2014  at the World Muscle Society(WMS) conference in Berlin.  Their findings are as follow:

The report was based on 49 out of 59 patients who were taking 12 grams of sialic acid tablets.  No "clinically meaningful advantage" were noticed between the patients on the the 12 grams regimen compared to the 6 grams. The 12 grams/day data do not suggest any clinically meaningful advantage over 6 grams/day. The study has been underway for two years now, and the data indicated that progression of the upper body muscles had slowed down compared to the 24-week group that had used the placebo.

Ultragenyx met  with the FDA on starting a possible "Pivotal (phase 3) study. This most likely will be randomized, along with a placebo regimen and will last for about 48 weeks.  The FDA agreed  to their submitted study design which will include tests on the upper extremity muscle strength, and supported with reported data from patients functional activity scale (GNEM-FAS).  This proposed trial of phase 3 is planned for the middle of 2015. 
Here is the link with the specific findings.**
http://files.shareholder.com/downloads/AMDA-2CDCD3/3721047003x0x799012/A6145A12-06BC-4540-8639-9B86953A2A14/Ultragenyx_-_Oppenheimer_Presentation_12_10_14.pdf

**Please scroll down once on the link to find the gne-myopathy findings.


National Institutes of Health in Bethedsa Maryland.
The National Institutes are still planning to conduct phase 1b of the ManNac clinical trial, which will hopefully start early 2015. The patients who have waited for this trial will hopefully get their wishes answered in the near future.  The Natural history study is still recruiting.  Here is the link.
https://clinicaltrials.gov/ct2/show/NCT01417533?term=hibm&rank=8

There is a registry website for patients with gne-myopathy. It is important for patients to visit this site to register.  This will assist the researchers in discovering patterns in the onset, and progression of gne-myopathy.  The site is user friendly and the questions are easy to answer.
 http://gnem-dmp.com/

Thank you, everyone for your support, and I wish you a more healthy, peaceful, and joyful 2015.  May we experience love and healing.

Rare Disease Day in La Jolla, California. Calling All GNE-Myopathy Patients

 Fellow GNE Myopathy friends, and family there will be a Rare Disease Day in February 2015 in La Jolla, California.  This will be held on February 27th., 2015.  I am posting this so those interested  would have enough time to plan on coming.  My understanding is that there will be doctors and researchers who have and are studying GNE Myopathy.    Our disease will be featured at this symposium.  Please follow the link and register, it is free.  The organizers need to get a count of how many of us will be attending.  Please make an effort to come.  I have posted the link with the information about the location and other particulars.  Please contact me if you have any questions.  

Sixth Annual Rare Disease Day Symposium

Treating Disease with Sugars

Disease Featured: Hereditary Inclusion Body Myopathy (HIBM)

February 27, 2015
9:00 a.m. – 5:00 p.m. PST
10905 Road to the Cure
La Jolla, California map & directions

This year's event is organized by 
Hudson Freeze, Ph.D. 

http://www.sanfordburnham.org/research/programs/genetics/symposium/Pages/2015.aspx

Ultragenyx Presentation at The World Muscle Society in Berlin

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Ultragenyx, a pharmaceutical company conducting the clinical trial for GNE Myopathy presented their findings on Phase 2 extension study at the World Muscle Society which was held in Berlin this year. They are noticing that 12 grams of the medicine dose not have a "clear" advantage over 6 grams. This company will further discuss with the regulatory authorities on a "pivotial"   (possibly phase 3)study for GNE Myopathy patients.

Please refer to article which was copied from Ultragenyx's website.

http://ir.ultragenyx.com/releasedetail.cfm?ReleaseID=875816

Ultragenyx AnnouncesFrom Phase 2 Extension Study of Sialic Acid Extended-Release at International Congress of the World Muscle Society

NEWSWIRE) -- Ultragenyx Pharmaceutical Inc. (Nasdaq:RARE), a biopharmaceutical company focused on the development of novel products for rare and ultra-rare diseases, today announced the presentation of results from a Phase 2 extension study of sialic acid extended-release (SA-ER, UX001) tablets in patients with hereditary inclusion body myopathy (HIBM; also known as GNE myopathy), a rare, progressive muscle-wasting disease. SA-ER is designed to replace the deficient sialic acid substrate in patients with HIBM. The data were presented at the 19^th International Congress of the World Muscle Society (WMS) in Berlin.
"The data from the extension study of SA-ER support our plans to move forward with this program," said Sunil Agarwal, M.D., Chief Medical Officer of Ultragenyx. "While the 12 gram per day dose did not appear to have a clear advantage over the 6 gram per day dose, it does provide additional evidence of activity and safety and we are encouraged to see a potential long-term impact on disease progression in upper extremity muscle strength after approximately two years of treatment."
Patients in the initial Phase 2 study were randomized to receive placebo, 3 grams/day, or 6 grams/day of SA-ER. After 24 weeks, placebo patients crossed over to either 3 grams/day or 6 grams/day, on a blinded basis, for an additional 24 weeks. The 48-week analysis compared change from baseline for the combined groups at 6 grams/day versus 3 grams/day of SA-ER.
The initial Phase 2 data, which were presented at the American Academy of Neurology (AAN) Annual Meeting in April 2014, showed a statistically significant difference in the upper extremity composite (UEC) of muscle strength at 48 weeks with the higher dose group compared to the lower dose group. SA-ER appeared to be safe and well-tolerated with no serious adverse events observed to date. Most adverse events were mild to moderate and most commonly gastrointestinal in nature.
In the first part of the extension study, all 46 patients from the 48-week Phase 2 study crossed over to 6 grams/day for a variable period of time that was on average 24 weeks. In the second part of the extension study, all 46 patients and 13 treatment-naïve patients received 12 grams/day of SA-ER for 24 weeks. The results presented at WMS include the 49 out of 59 patients who had 24 weeks of data at the higher dose. While the 12 grams/day data do not suggest any clinically meaningful advantage over 6 grams/day, the 12 gram data do provide additional data that support clinical activity with SA-ER treatment. The 12 gram daily dose of SA-ER appeared to be generally safe and well tolerated with no drug-related serious adverse events, but the rate of mild to moderate gastrointestinal adverse events did appear to be greater with this dose. Over the entire approximate two-year study, treatment with SA-ER appeared to slow the progression of upper extremity disease when compared to the 24-week placebo group extrapolated out to two years.
Based on the 48-week and extension study data, Ultragenyx intends to discuss with regulatory authorities a potential pivotal study of SA-ER in HIBM patients. The company will also continue to treat patients in the ongoing extension study.
About Hereditary Inclusion Body Myopathy
Hereditary inclusion body myopathy (HIBM) is also known as GNE myopathy. HIBM is a rare, severe, progressive, genetic neuromuscular disease caused by a defect in the biosynthetic pathway for sialic acid, with onset in the late teens or twenties. The body's failure to produce enough sialic acid causes muscles to slowly waste away and can lead to very severe disability, with patients typically becoming wheelchair bound and losing most major muscle function within ten to 20 years from onset. There are approximately 1,200 to 2,000 HIBM patients in the developed world, and there is currently no approved therapy.
About Ultragenyx
Ultragenyx is a clinical-stage biopharmaceutical company committed to bringing to market novel products for the treatment of rare and ultra-rare diseases, with a focus on serious, debilitating genetic diseases. Founded in 2010, the company has rapidly built a diverse portfolio of product candidates with the potential to address diseases for which the unmet medical need is high, the biology for treatment is clear, and for which there are no approved therapies.
The company is led by a management team experienced in the development and commercialization of rare disease therapeutics. Ultragenyx's strategy is predicated upon time and cost-efficient drug development, with the goal of delivering safe and effective therapies to patients with the utmost urgency.
For more information on Ultragenyx, please visit the company's website at www.ultragenyx.com.
Forward-Looking Statements
Except for the historical information contained herein, the matters set forth in this press release, including statements regarding the potential impact of SA-ER on the progression of HIBM and plans for a potential pivotal study, are forward-looking statements within the meaning of the "safe harbor" provisions of the Private Securities Litigation Reform Act of 1995. Such forward-looking statements involve substantial risks and uncertainties that could cause our clinical development programs, future results, performance, or achievements to differ significantly from those expressed or implied by the forward-looking statements. Such risks and uncertainties include, among others, the uncertainties inherent in the clinical drug development process, including the regulatory approval process, the timing of our regulatory filings, and other matters that could affect the availability or commercial potential of our drug candidate. Ultragenyx undertakes no obligation to update or revise any forward-looking statements. For a further description of the risks and uncertainties that could cause actual results to differ from those expressed in these forward-looking statements, as well as risks relating to the business of the Company in general, see Ultragenyx's Quarterly Report on Form 10-Q filed with the Securities and Exchange Commission on August 11, 2014, and its subsequent periodic reports filed with the Securities and Exchange Commission.

CONTACT: Ultragenyx Pharmaceutical Inc.

         844-758-7273

         For Media, Bee Nguyen

         For Investors, Robert Anstey

A Synopsis of my Trip and Experience at The Rare Disease Patient Advocacy Summit

      Some of my readers and friends with GNE Myopathy have asked me to relate my experience of my trip to the Patient Advocacy Summit.   I thought that  it would be a good idea as it would  shed light on  using public transportation from the central coast area of California to Huntington Beach, California, approximately 360 miles away. When I travel long distance, I use a power wheel chair as such a chair would  help me to maneuver uneven terrain better than if I used a walking stick. 
      I got up quite early to prepare for the trip to Huntington Beach.   I got dropped off at the Amtrak train station at 8.30 a.m.  The Amtrak  bus came about 9 a.m.  and the driver loaded me sitting in the wheel chair on a lift  into the bus.  He secured the chair with fasteners on the floor so the chair would not move. After about 5 hours I arrived in  Santa Barbara, and I  got on the Amtrak train.  I like the train as I feel a little more independent, and the conductors are very attentive to people with disabilities.  I can use the bathroom with ease and effortlessly navigate the aisles.  I can also get food, drinks, the internet, and meet interesting people on the train.   Most of the view  is quite stunning of the Pacific ocean.  Four hours after I got on the train, I arrived at Santa Ana train station.   I waited about thirty minutes and the OCTA paratransit (Orange County Transportation Authority) picked me. up.  
     After another hour on the paratransit I got to the hotel only to find out that the room (one with a roll-in-shower) I had  reserved was given to someone else!   After sitting in a wheel chair for more than than 12 hours, I was absolutely exhausted and frustrated.  The following day however,  I was quite  fortunate to find another hotel that had a roll in shower and accesible accomodations. The trip back home took  a little longer as the train, paratransits, and buses all missed  their scheduled arrival time.
     I see I have quite a long paragraph about my challenges.   I usually refrain from discussing such challenges as  I know that many  others experience far more more challenging situations than I do.  I hope I have not belittled  the physical  challenges of any of my readers.  This recount of my trip is meant to shed light on what it is like to use public transportation for someone in a wheel chair.  Although the trip took 12 plus hours, I am so grateful that I was able to attend the Global Genes Advocacy Summit.
     A redeeming value of my long trip however was the place where the Advocacy Summit was held was a beautiful scenic hotel, and spa environment.  Both Global Genes and the Hyatt Regency staff were absolutely attentive and helpful.  I think I was one of three persons in a wheel chair who attended the summit.
Let's take a pause, to enjoy these beautiful flowers!

    There were approximately 300 plus attendees and presenters at the Summit.  Many of the topics discussed were  in general applicable to people with GNE Myopathy and other rare diseases.. There were presentations on Innovations in Science, Making Peace with what you can't control and the Power of Putting Information into the Hands of Patients. Other than myself, no others with GNE Myopathy attended.  
     I have made some good connections, learned about other rare diseases, and about the policies dealing with rare diseases.  An interesting fact is that there are about 7,000 rare diseases  for which  only 500 approved therapies exist.  I especially liked the "deep dives" sessions where I could get into smaller groups to listen and discuss  more deeply  a topic that had been presented before.  Finally, I feel full of gratitude to have been able to attend this Summit through which I have become very aware that we in the rare disease community need to collaborate, and share information, and that patients need to take an active role in influencing policies, research, treatments, and cures.
      Please check out Global Genes site as they have many tools to inform and educate patients. Check out their tool kits. http://globalgenes.org/

Here are some links that some of you may want to explore for tips etc.
Caregiver Action Network:  http://www.caregiveraction.org/
Empowered patients:  http://empoweredpatientcoalition.org/
Ben's Friends:   http://www.bensfriends.org/about/mission/

Change in my Blog Name, And Discussion on Recent Articles on GNE Myopathy

     Please note that I have now changed my blog site to "taratalksgnemyopathy.blogspot.com.  I have changed it to more accurately  name the gene (GNE) that is defective  in GNE Myopathy.

     In this issue of  my blog I have inserted  links for two articles which are quite technical in their contexts. These are only available in "abstracts" online. However,  I have been fortunate enough to read and study both articles in their entirety. These articles are so important for us to understand, and I would encourage anyone who has the permission to post the complete articles online for patients. I have attempted to  explain what I understand and what I find relevant for patients. 
     This article contains 12 pages,  including tables indicating  all the known 147 GNE  variants  as of January 2014 that were reported in literature, in addition the National Institutes of Health (NIH) found 7 more. They have identified ethnic founder mutations such as those found in Middle Eastern, Japanese, Roma Gypsies, and  other ethnic groups.  Additionally, there are tables indicating the various mutations and how  each affects  a patient in terms of "mild, medium and severe". Also mentioned by the researchers, based on their scientific calculations believe that there may be at least 40,000 patients with GNE myopathy worldwide.  The estimated breakdown of patients  are  approximately 13,000 in Asia, of which  750 are in Japan, 4,000 in Europe,  and 3,000 in North America.  So far, there are only 800 reported patients.  This indicates that we really need to work on bringing awareness to families, patients, and medical communities world wide. 

Abstract 1
Mutation Update for GNE Gene Variants Associated with GNE Myopathy.

Celeste FV1, Vilboux T, Ciccone C, de Dios JK, Malicdan MC, Leoyklang P, McKew JC, Gahl WA, Carrillo-Carrasco N, Huizing M.

Author information

Abstract

The GNE gene encodes the rate-limiting, bifunctional enzyme of sialic acid biosynthesis, uridine diphosphate-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE). Biallelic GNE mutations underlie GNE myopathy, an adult-onset progressive myopathy. GNE myopathy-associated GNE mutations are predominantly missense, resulting in reduced, but not absent, GNE enzyme activities. The exact pathomechanism of GNE myopathy remains unknown, but likely involves aberrant (muscle) sialylation. Here, we summarize 154 reported and novel GNE variants associated with GNE myopathy, including 122 missense, 11 nonsense, 14 insertion/deletions, and seven intronic variants. All variants were deposited in the online GNE variation database (http://www.dmd.nl/nmdb2/home.php?select_db=GNE). We report the predicted effects on protein function of all variants well as the predicted effects on epimerase and/or kinase enzymatic activities of selected variants. By analyzing exome sequence databases, we identified three frequently occurring, unreported GNE missense variants/polymorphisms, important for future sequence interpretations. Based on allele frequencies, we estimate the world-wide prevalence of GNE myopathy to be ∼4-21/1,000,000. This previously unrecognized high prevalence confirms suspicions that many patients may escape diagnosis. Awareness among physicians for GNE myopathy is essential for the identification of new patients, which is required for better understanding of the disorder's pathomechanism and for the success of ongoing treatment trials.

Published 2014. Wiley Periodicals, Inc. **This article is a U.S. Government work and is in the public domain in the USA.

     This second article is written by Dr. Ichizo Nishino, Dr. Carrillo-Carrasco and Dr. Zohar Argov and it contains 10 pages.
      This article discusses the current update and future therapy for GNE myopathy. It further illustrates how our cells use sialic acid. It reports all the clinical trials to date  done on GNE myopathy. These include IVIIG, and ManNAc, which were done at the NIH, NeuAC done in Japan,  and currently SA-ER being done by Ultragenyx in the United States and Israel. Liposomal systemic GNE delivery was done on one patient of which there was minimal improvement.  
     Of interest to me, and I believe other patients is the discussion of "future therapeutic development", where the authors state that while they think that metabolic supplementation for GNE myopathy is promising, researchers have to consider other strategies.  These strategies would include better GNE metabolites, or sialic acid compounds, drugs to block or modify  the degenerative process, gene or cell based therapies. These treatments may need  to be combined with supplementation therapy.   
     It is mentioned that at the GNE laboratory in Israel under the direction of Dr. Mitrani-Rosenbaum along with other collaborators, are studying an  AAV gene mediated vector. Preliminary results with animals are promising.
     I find both articles helpful in my understanding of my disease. I am encouraged by the vast amount of progress that has been made since I was diagnosed, and  there is hope that one day we may be able to stop GNE myopathy.  We need to spread the word around the globe for early diagnosis.

Abstract 2
http://www.ncbi.nlm.nih.gov/pubmed/25002140

 Neurol Neurosurg Psychiatry. 2014 Jul 7. pii: jnnp-2013-307051. doi: 10.1136/jnnp-2013-307051. [Epub ahead of print]

GNE myopathy: current update and future therapy.

Nishino I1, Carrillo-Carrasco N2, Argov Z3.

Author information

Abstract

GNE myopathy is an autosomal recessive muscle disease caused by biallelic mutations in GNE, a gene encoding for a single protein with key enzymatic activities, UDP-N-acetylglucosamine 2-epimerase and N-acetylmannosamine kinase, in sialic acid biosynthetic pathway. The diagnosis should be considered primarily in patients presenting with distal weakness (foot drop) in early adulthood (other onset symptoms are possible too). The disease slowly progresses to involve other lower and upper extremities' muscles, with marked sparing of the quadriceps. Characteristic findings on biopsies of affected muscles include 'rimmed' (autophagic) vacuoles, aggregation of various proteins and fibre size variation. The diagnosis is confirmed by sequencing of the GNE gene. Note that we use a new mutation nomenclature based on the longest transcript (GenBank: NM_001128227), which encodes a 31-amino acid longer protein than the originally described one (GenBank: NM_005476), which has been used previously in most papers. Based upon the pathophysiology of the disease, recent clinical trials as well as early gene therapy trials have evaluated the use of sialic acid or N-acetylmannosamine (a precursor of sialic acid) in patients with GNE myopathy. Now that therapies are under investigation, it is critical that a timely and accurate diagnosis is made in patients with GNE myopathy.

Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.

Abdullah's Impressive Journey of Living with HIBM

Dear friends, this is my friend Abdullah's story of his life with HIBM.  As I get to meet and know other friends with this rare disease, I have become increasingly touched, and  humbled to hear their stories.  I have learned more about my suffering by listening, relating, and sharing our similar challenges. Thank you Abdullah for sharing with us.

Abdullah's Story:

     This might be the first time that I am telling my detailed story and battle with HIBM disease. Actually, I have known about this disease since I was a child.  Maybe not under its current name, but I definitely knew already what it could do and how it could hurt.
     I was exposed to its different phases through forty years of my life.  My first introduction was when I was five. At that age I saw my father arriving at our village after a long time of disappearance for medical treatment in the city as I was told.
     I saw my father then pulling up his legs from the ground, trying to walk, and struggling to prevent himself from falling on the narrow rocky walkways of our village with two of our relatives standing on each sides near him ready to help. I knew by then that my father was different, such that his return turned out to be a sad occasion.
     I got used to my father being physically weak, so I got used to being careful when I played with him or got close to him since just a little bump could make him fall down. This disease somehow became part of my life ever since.
     Time flew and months turned into years. I grew up quickly and completed my college training to become a naval officer. I was even lucky enough as to make my dream come true:  joining the Naval Flight School to become a pilot for the Navy.
     During my flight school days and when I was 22, I started to notice some strange signs of becoming easily fatigued after running or heavy exercises. I was really athletic at that time, and I thought of many reasons for these strange body responses, but I never came close to the thinking that I had a muscle disorder similar to what my father had.
     I had earned my wings and have flown (Navy) aircraft for three years.   However, the symptoms of weakness and improper functioning of my lower limbs continued to grow, but I kept denying those realities, and resisted visiting a doctor, possibly because I suspected the answer all along.
     It did not last long before I had to see a flight physician for an annual flying medical checkup. Once the doctor completed his routine checkup and started to sign my “fit to fly sheet”, he asked “did you suffer from any problems?"  I answered him with painful feelings, "I believe that I am not safe to fly."  “Why,” the surprised doctor asked.  I mentioned to him that I didn't really know what was the matter, but my legs muscles were not strong enough to prevent my feet from dropping. The doctor then sent me to a neurologist to diagnose my case.
     In my visit to the neurologist, I remember that he came out to welcome me and, as I was walking to his exam room he was observing my walking style.   He surprised me with this question: “Do any of your parents have a muscular problem?" Before my “yes” answer and in those very few seconds of pause I realized that my flying days were over and my whole life would not be I had hoped.
     With no doubt, the diagnosis was thus muscular dystrophy, which later was correctly confirmed as HIBM. The disease that had weakened my father’s body had just begun to do its destruction on my young body.
 
     The fact that I was almost fit and having only minor walking problems, and simultaneously recognizing that I would soon be in a wheelchair was not an easy idea for me to accept.   Adapting to the whole idea of living perpetually with a disability was indeed a very difficult journey.
     It took me a couple of years to accept HIBM as part of me, and it took me a few years more trying to ignore it and continue my life.  Naturally, at first it was very hard to deal with this illness.  Often I just I hated the ever progressing mobility limitations that  that restricted what I could do, and  it changed my life style.  However, my God (Allah) gave me the required acceptance and the satisfaction to realize that this was my fate, and that  I should appreciate the other gifts that were given to me.
     With extraordinary support from my wife without whom I could not imagine my life plus the support of my great family and friends, I was able to positively turn my life around and focus on my achievements. With a successful marriage, five wonderful kids, and recognized educational and career successes, there was no reason for me to complain.
      Although I am trying to enjoy each day of my life as it comes along,     my hope is to get stronger.  I fervently hope in the near future a               treatment will be available for myself and others who suffer from             HIBM.
 

Gne Myopathy Study in France And a Patient's Summit in September

Dear Friends:
     Here is an HIBM study that is taking place in France.  Please check the hyper-link for specific information.

Clinical, Biological and NMR Outcome Measures Study for Hereditary Inclusion Body Myopathy Due to Mutation of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine Kinase Gene (GNE) (ClinBio-GNE)

Contact: Teresa Gidaro, MD PhD	+33 1 42 16 66 48	t.gidaro@institut-myologie.org

Location:  France
Institute of Myology	Recruiting
Paris, France, 75013
Principal Investigator: Teresa Gidaro, MD PhD

https://clinicaltrials.gov/ct2/show/NCT02196909?term=hibm&rank=5


     There will be a rare patient's advocacy summit to be held in Huntington Beach, California on  September 11-12, 2014.  For those who are unable to attend, there will be live streaming on the days  of the summit.  I have attached the link below.

2014 RARE Patient Advocacy Summit

Please join us for our

3rd Annual “RARE Patient Advocacy Summit”
held on September 11-12, 2014
at the Hyatt Regency in Huntington Beach, California.

Empowering Patient Advocates to Become Successful Activists

http://globalgenes.org/2014-rare-patient-advocacy-summit/

Slide and Poster Presentation at the American Academy of Neurology Meeting by Ultragenyx

Ultragenyx, the bio-pharmaceutical company conducting the clinical trial with Sialic Acid -extended release and immediate release has announced positive data from their phase 2 study,  The company presented some of this information prior to this, however the data now seems to have more details.

I hope the graphs and charts I have posted here are legible. Please feel  free to contact me if you have any questions.                                                

National Institutes of Health to Host a Series of Events to Address Rare Disease Day

The NIH will be celebrating Rare Disease Day on February 28th.  There are over 6500 rare diseases.  The event is free to the public and is held at the NIH in Bethesda, Maryland.  I have attached the link.
https://events-support.com/Documents/AGENDA_RDD14.pdf

A Conglomeration of List of Links and Updates On HIBM (GNE Myopathy)

It appears that rare diseases are getting more coverage in the media and bio-pharmaceutical companies are willing to take on the tasks of research and drug trials
.http://www.phrma.org/working-together-we-can-produce-results

1.  Ultragenyx, the company that is conducting the Sialic Acid (extended and immediate release) tablets for HIBM has started trading their stock on Wall Street now.  They use the ticker symbol RARE.  Here is a link on their presentation and an upcoming event.  On March 5th they will be having a  Health care conference of which it seems one could register for.
  http://ir.ultragenyx.com/events.cfm

2.  The LA Marathon will be happening on March 9th. and there is a site set up for those who would like to participate or donate. http://www.crowdrise.com/runforhibm2014/fundraiser/sandradarvish

3. Ultragenyx is recruiting participants for a Combined Registry Prospective Natural History Study.  They are recruiting participants in the United Kingdom, Canada, and the United States.  I see also listed are France and Bulgaria  however they are not recruiting yet.  Here is the link:
http://clinicaltrials.gov/ct2/show/NCT01784679?term=hibm&rank=2

4.  The National Institutes of Health still seems to be recruiting for their natural history study:
http://clinicaltrials.gov/ct2/show/NCT01417533?term=hibm&rank=4

5.  There is support group on  facebook for patients and family with HIBM.  This is a very helpful group of people who offer tips on how to manage our disease.  We also started a Google hangout group and this was quite informative to see and chat with others.

Please feel free to contact me if you need more information in this blog.
Thank you for visiting this blog.

Affordable Testing for HIBM Will Take Place in Los Angeles, California on January 12th. 2014

For those who  are living in Los Angeles, California  or can make there this weekend,  please use this opportunity to get tested for HIBM.
NDF is proud to partner with Sinai Temple and the Los Angeles Jewish Genetic Disease Project to finally bring affordable genetic disease screening to Los Angeles. Together we can stop HIBM from passing to the next generation.
Please refer to this link.

https://www.facebook.com/events/397791307033701/