Patient Day & GNE Myopathy Disease Monitoring Program Newsletter

     On April eleventh  Ultragenyx, a bio-pharmaceutical company held a celebration to honor families and patients with rare diseases.  This was their second year of holding this event.  There were about four hundred and fifty in attendance.  Ultragenyx is working on seven different drugs to help children as well as adults overcome their challenges with rare diseases.
      Ultragenyx offered travel scholarships for patients and their families to attend this event and organised transportation for patients to and from the venue.It was a beautiful sunny day in Novato, California where the event was held.  I attended this event with some of my family members and was impressed with the well-organized and smooth flow of such a large number of attendees.  We were warmly welcomed by the staff, who were very attentive to us and offered assistance to whoever needed it. There were vast amounts of delicious food served, as well a "dessert "truck."  There were many activities, especially for the children, such as game truck, face painting, and a bounce house.  I especially enjoyed listening to the band "Three Dog Night" as I danced in my chair to the captivating music.
     There were three other gne-myopathy patients present, and it is always intriguing to meet more patients as we have an unspoken bond. I was touched to see many young children with rare diseases in attendance.  It was very inspiring and refreshing for me to observe the young children with rare diseases. I feel hopeful that they will get effective treatment.
     Thank you Ultragenyx and your very talented staff for bringing rare disease patients and families together for this memorable event.
                                               Three Dog Night - Sweet Nostalgia

     Below is a link for the April Newsletter from the GNEM Disease Monitoring program.  This newsletter contains a story of another gne-myopathy patient, Colm Mohan, physical therapy tips, and information of the Phase Three trial of Sialic Acid.  Interestingly enough, it also states that over 150 patients have registered from various countries. There is a graph indicating the age of the participants and an overview of the answers they submitted on their functional activities and their areas of weakness. There is important information that researchers are finding out from the patients who are participating in this registry, which will help newly and yet-to-be diagnosed patients..
     Please click on the link to view this newsletter, and I urge those patients who have yet to register, to please do so.  Please feel free to send me a message if you need help.  I would be glad to help anyone who would need help with the registration.
Please email me at:  gne.myopathy@gmail.com

http://www.treat-nmd.eu/downloads/file/registries/GNE_HIBM/GNEM-DMP_Newsletter_April_2015.pdf

Ultragenyx Will be Celebrating Patient Day For Patients With Rare Diseaes

The bio-pharmaceutical company Ultragenyx will celebrate   Patient Day with patients and families  of rare diseases.  This is our chance to meet and celebrate our "rareness" with others.The deadline for travel scholarship was March 14th, however you may want to try to register and see what happens.  Please refer to the link below for additional information.  This would be another opportunity for gne-myopathy patients to get to know each other.   

ULTRAGENYX PATIENT DAY 2015

When:    Saturday, April 11, 2015 from 11:00 AM - 3:00 PM PDT

Where:  Ultragenyx Pharmaceutical Inc. Headquarters

60 Leveroni Court, Novato, CA 94949

Ultragenyx Patient Day is held to honor patients with rare diseases. Please join us for a fun-filled day of food, games, refreshments, live music and much more. Kids are welcome to attend!

*Bounce House *Face Paint *Tattoos *Video Game Truck

Agenda

• 11:30 AM - Buffet Opens
• 12:30 PM - 1:30 PM - Presentations on Stage
• 1:30 PM - 3:00 PM - Entertainment including live music

Travel Scholarship Information

A limited number of travel scholarships will be given. Requirements are as follows:

• Be a patient, or 
• Be a family member, or
• Involved in a patient organization

Please click on the registration link below to be considered for a travel scholarship. Rx Worldwide Meetings, Inc. is the designated meeting planner for this event and will be assisting you with any special requirements, as well as hotel accomodations and transportation. Rx Worldwide Meetings will send travel requests to Ultragenyx for scholarship selections. The Deadline for scholarship consideration is March 14th, 2015. For any questions, please contact ultragenyxpatientday@rx-worldwide.com or patientday@ultragenyx.com.

http://events.r20.constantcontact.com/register/event?oeidk=a07ea1v5hyo78a40bff&llr=orxhodsab

"Road To The Cure" - Rare Disease Day Symposium at the Sanford/Burnham Research Institute

I was very fortunate to be able to attend a  Rare Disease Day Symposium at the Sanford Burnham Research Institute in La Jolla, California.  This campus is located in a coastal area, and the views were quite stunning. I wish more of us could have been able to attend.

 This symposium was entitled "Treating Disease with Sugars," a befitting title especially related to GNE-myopathy.   Mr. T. Denny Sanford, an  Honorary trustee of Sanford Burnham reminded the participants  that we  were there to get a good basic presentation of the many important research projects going on in rare disease.  The structure of this symposium was very unique  as it brought together faculty, students, scientists, doctors, patients, and families.  We are all stakeholders in finding cures through presenting and questioning ongoing research.  By listening and collaborating with both patients as well as scientists,  we will be bring effective therapies sooner to the patients.

There were at least seven GNE-myopathy patients, including myself in attendance at the symposium, This is the first time I have seen so many of us in one room at the same time. A major part of the symposium was dedicated to research on GNE-myopathy.  Dr. J. Bartfeld began the symposium with her presentation, "Letting Go While Holding On"  Dr. Bartfeld is a GNE-myopathy patient and her presentation brought me to tears as I saw in her a younger me who had experienced the profound pain, of not being able to participate in my children's physical activities at school, home, or with their playmates. It is a fundamental purpose for parents to be able to be join with their young children's activities.

NOTE:   *I have posted the link to the video presentations at the end of this discussion, except for Dr. Malicdan which is not available as of this posting.

Many noted researchers attended the symposium.  Drs. Carrillo-Carrasco and May C. Malicdan from the National Institutes of Health presented research on various forms of ManNac tested on mice, and also discussed their recruiting of patients for the soon-to -start ManNac trial. Here is the link.
https://clinicaltrials.gov/ct2/show/NCT02346461?term=gne+myopathy&rank=2

 Dr. E. Conner from Ultragenyx explained the results of the Sialic Acid Phase Two trial. Kim Mooney, Associate Director of patient advocacy from Ultragenyx was very attentive and helpful to our patient group.  Ultragenyx hopes to start  Sialic Acid Phase Three trial soon.   They will be recruiting additional patients to the patients currently in the extended Phase Two trial.  Please refer to this link and check the site regularly for updated information on recruitment.
https://clinicaltrials.gov/ct2/show/NCT02377921?term=gne+myopathy&rank=3

 I understand that most  GNE-myopathy patients will want to view only the videos on our disease; however, if time permits, please take a look at Dr. Freeze's presentation.  I found it quite riveting and fascinating.  I loved the visuals he provided and his way of presenting research.  I learned some new facts.

The "Doctor-is in" sessions were very helpful, and we got to meet with the researchers and could ask them as many questions as we wanted.  This was a very important and valuable part of the symposium as I was able to get my questions answered.  I believe other patients were also pleased with this part of the program.

As patients we need to continue to tell all who will listen about  Gne-myopathy.  Particularly,we must promote increased awareness, find undiagnosed patients, and assist them to sign up on the registry.  I know that some of us may think this is not important because it offers no treatment. I understand, however we need to weigh not participating versus the reward.  I think the reward will be greater because this will help the researchers see more clearly related patterns, and variables in our disease.  In the end it will help others to get a more accurate diagnosis.
Please register using this link.  Please feel free to let me know if you need help.
https://clinicaltrials.gov/ct2/show/NCT01784679?term=gne+myopathy&rank=5

 I want to express my utmost appreciation to all the presenters, the organizers, the patients, and Amy Zimmon (Sanford Burnham). Amy graciously arranged an accessible shuttle for us, made sure we were well fed, and even picked some of us up from our hotels.   This event was well organized, and my hope is that we will continue to have programs like The Road To The Cure "SWEET".  I am encouraged and full of hope since we have so many talented persons on our side who are working  on GNE myopathy.

The link for the video presentation
**http://www.sanfordburnham.org/research/programs/genetics/symposium/Pages/2015.aspx

**This is concurrently posted on gne-myopathy.org web site, (A site organized by patients and family  internationally as well as in the U.S.A.)
http://gne-myopathy.org/

Addendum
Here is coverage done by the San Diego Tribune of the Rare Disease 
Symposium 

For patients with extremely rare or undiagnosed diseases, visits to the doctor may offer more frustration than hope. Modern medicine is devoted to treating common maladies, not rare illnesses a doctor may never have encountered or even heard of.

A group of these patients from as far away as Italy gathered recently at the annual Rare Disease Day Symposium held at Sanford-Burnham Medical Research Institute. The patients, or their parents, hear about the latest research and get a chance to talk directly with researchers and physicians who specialize in rare diseases.

The researchers and physicians talk with the patients as equals, each contributing their own knowledge and perspective. And while the talk gets into rarefied scientific territory, it's brought back to earth by something as simple as a child throwing a ball in a researcher's direction.

This year's symposium focused on diseases of metabolizing sugars. Sugars, also called glycans, play numerous roles throughout the body. They enable immune system to distinguish self from invading pathogens, produce strong muscles, digest food, even to see. Defects in sugar metabolism, or glycosylation, are involved in Alzheimer's disease. Glucosamine, a popular nutritional supplement, is a sugar.

Tara Voogel is an expert in one of these diseases, GNE myopathy, which causes a progressive wasting away of muscles. She has no formal education in GNE myopathy. But as a patient with a disease very few health care professionals are familiar with, she understands its effects as few others can. And she's reading and learning all she can to find help.

Hope for patients like Voogel, who relies on a wheelchair for mobility, comes from research.

Spreading the word on GNE myopathy

Her own condition is tough enough, but to watch her siblings struggle with the disease is even harder, Voogel said.

"I've seen the whole spectrum from my eldest sister to my younger brother, and because of that, I have to do what it takes," Voogel said, choking up.

There is some good news for those with GNE myopathy. Taking a simple sugar by mouth shows promise of preventing or relieving symptoms. A sugar, called ManNAC, or N-Acetyl-D-mannosamine, is in Phase 2 trials. And Ultragenyx Pharmaceuticals of Novato is developing an extended-release form of sialic acid as a therapy. In January, the company said it plans to file for conditional approval in Europe.

But more research is needed, and with the National Institutes of Health operating with a stagnant budget, funding that research is difficult. Moreover, few people know of the vital role sugars play, which makes getting attention difficult.

"My background is in nutrition, but we never learned about these sugars," Voogel said in a meeting with her GNE peers and researchers. "All we learned about was the calories."

Even expert doctors don't get educated in the role of glycans in biology, said glycobiologist Gerald "Jerry" Hart of Johns Hopkins University.

"People are educated about DNA and proteins and nucleic acids practically in grade school," Hart said. "There is no education even in graduate school and in medical school, of the importance of these sugars in biology. The field of glycobiology has grown immensely. I teach medical students, and I tell them, every disease that affects mankind directly involves glycans."
Please click on the link to read the whole story.
http://www.utsandiego.com/news/2015/mar/08/sanford-burnham-rare-disease/

When the doctor has no answers.utsandiego.com/news/2015/mar/08/sanford-burnham-rare-disease/

A Couple Participating in the Boston Marathon Will Help us Raise Awareness for Gne-Myopathy

A couple (Mike and Christine) runners who will be participating in the Boston Marathon has graciously "adopted" me as partner/patient. One of my goals is to bring an understanding, and increase the awareness of gne-myopathy globally.  We are very fortunate, in addition to recent attention our disease has been given, and now two runners will represent us in the Boston Marathon.   This event is coordinated with the National Organization for Rare Disorders.   Please share their web site, and donate if you can.

http://www.firstgiving.com/fundraiser/Donabedians/2015-running-for-rare-diseases-team

Not only they will run for gne-myopathy, the funds raised will be given to The National Institutes Of Health.

"All the funds raised for NORD through the Running for Rare Diseases Team will support the Genzyme/NORD NIH Undiagnosed Diseases Program (UDP). As many rare disease patients must endure a long odyssey before finally receiving an accurate diagnosis, the entire Running for Rare Diseases team is passionate about enabling early diagnosis for those living with mysterious, rare conditions.The new fund will pay for the medical testing for individuals who cannot afford the basic medical work-up needed to make them eligible to apply for the UDP. We are thrilled to be able to provide this patient assistance program to support patients who have exhausted all other avenues to seek a diagnosis!"

Thank you Mike, Christine, and NORD for this wonderful opportunity. Tara

National Institutes of Health is Recruiting Patients For a ManNac Clinical Trial

Here is what many patients were waiting for and this is a very important opportunity to take part in this clinical trial that will take place at the NIH in Bethedsa, Maryland, U.S.A.  Please let me know if you need some one to assist you in getting in touch with the researchers due to language barriers or time zones.  Here is the information with the link at the end of the text.

An Open Label Phase 2 Study of DEX-M74 in Subjects With GNE Myopathy

Objective:

- To evaluate the safety of 90 days of DEX-M74 given by mouth.

Eligibility:

- Adults ages 18 60 diagnosed with GNE myopathy.

Design:

• Eligible participants will be admitted to the NIH Clinical Center for the first visit and will stay 10 14 days. Participants will have:
• Medical history and physical exam
• Electrocardiogram to measure heart function
• Blood and urine tests
• Muscle strength tests
• Magnetic resonance imaging (MRI) muscle scans. Participants will lie on a table that slides in and out of a metal tube that takes pictures
• Questionnaires
• Muscle biopsies. Samples of muscle will be taken, one each from the arm and leg.
• The study drug as a liquid twice a day
• Participants may wear a small activity monitor throughout the study. It can be worn on a waistband.
• After discharge from the initial visit, participants will take the study drug at home. Participants will need to record if they miss any doses.
• Visit 2 will be at 6 weeks for 1 2 days of medical evaluation. Blood samples will be drawn.
• Visit 3 will be at the end of the study. Participants will stay in the NIH Clinical Center for 5 6 days for medical evaluations, muscle tests, and scans. Another muscle biopsy will be taken. Blood samples will be drawn.
• Participants will be contacted by telephone or email about 4 times after leaving the clinic.

https://clinicaltrials.gov/ct2/show/NCT02346461?term=hibm&rank=10

Ultragenyx Announces Intent to File For Conditional Approval in Europe for Sialic Acid

Here is a document  which Ultragenyx released today.  Let's hope this gets approved so more international patients may be able to access Sialic Acid.

Ultragenyx Announces Intent to File for Conditional Approval in Europe for Sialic Acid Extended-Release Tablets in Hereditary Inclusion Body Myopathy

NOVATO, Calif., Jan. 12, 2015 (GLOBE NEWSWIRE) -- Ultragenyx Pharmaceutical Inc. (Nasdaq:RARE), a biopharmaceutical company focused on the development of novel products for rare and ultra-rare diseases, today announced its intent to file a Marketing Authorization Application (MAA) seeking conditional approval from the European Medicines Agency (EMA) for the use of six grams per day of sialic acid extended-release (SA-ER; UX001) tablets in the treatment of hereditary inclusion body myopathy (HIBM; also known as GNE myopathy). SA-ER is designed to replace the deficient sialic acid substrate in patients with HIBM, a rare, progressive muscle-wasting disease. Based on Scientific Advice recently received from the EMA's Committee for Medicinal Products for Human Use (CHMP), the company intends to file an MAA in the second half of 2015 for stabilization of upper extremity muscle strength.
"HIBM is a devastating disease that can lead to severe progressive and irreversible muscle damage," said Sunil Agarwal, M.D., Chief Medical Officer of Ultragenyx. "Based on the Phase 2 data demonstrating slowing of disease progression, we are pursuing conditional approval of SA-ER in the European Union in order to accelerate access to this therapy for patients who otherwise have no approved treatment options."
The EMA may grant conditional marketing authorization when the potential treatment addresses a severely debilitating disease with an unmet medical need, has a positive benefit to risk profile, and the benefits to public health of its immediate availability outweigh the risks inherent in the fact that additional data are still required. Ongoing or new studies must be completed with the objective of confirming that the benefit to risk balance is positive. The approval is renewed on an annual basis until all obligations have been fulfilled, at which point a full approval may be granted.
In order to satisfy the EMA's requirement for additional controlled data, Ultragenyx plans to initiate a global, randomized, double-blind, placebo-controlled Phase 3 study of six grams per day of SA-ER in patients with HIBM in mid-2015. A composite of upper extremity muscle strength (UEC) will be the primary endpoint. Key secondary endpoints include GNE myopathy-functional activity scale (GNEM-FAS) (including patient-reported outcome scores of mobility and upper extremity function), and several measures of lower extremity muscle strength including the lower extremity muscle strength composite (LEC). The US Food and Drug Administration (FDA) has accepted this same Phase 3 study design as pivotal, including the primary endpoint of UEC.
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 2,000 HIBM patients in the developed world, and there is currently no approved therapy.
About SA-ER Treatment in Hereditary Inclusion Body Myopathy
A Phase 2 randomized, double-blind, placebo-controlled study with SA-ER has been completed. The data showed a statistically significant difference in the upper extremity composite of muscle strength at 48 weeks with a higher dose group compared to a lower dose group. SA-ER appeared to be generally safe and well-tolerated with no serious adverse events observed to date. Over an approximate two-year treatment period in the Phase 2 study and long-term extension, SA-ER appeared to slow the progression of upper extremity disease when compared to the 24-week placebo group extrapolated out to two years.
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 intent to file an MAA and the anticipated timing of such filing, as well as plans for a potential pivotal study and the timing of same, 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 November 10, 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

http://ir.ultragenyx.com/releasedetail.cfm?ReleaseID=890779

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/