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LA Mayor's Office Acknowledges the NDF's Advocacy with GNEM

Wednesday, February 19, 2020

Multi-Center ManNAc Trial Soon to Start, Rare Disease Day Events, And Recent GNEM News And Research Articles


Will 2020 be the year when we will have a viable treatment or will we be very close to a cure for GNE Myopathy?
 I wish I had a "crystal ball" and the foresight to answer the above question affirmatively.  What I know however, is that we are fortunate to have GNE Myopathy (GNEM) given the highest priority by The National Institutes of Health (NIH), Neuromuscular Disease Foundation (NDF), World Without GNE Myopathy (WWGM) and many well known researchers.  The new year looks very promising for our GNE Myopathy community, as these institutions sole purpose is to expeditiously find us a cure.
Many within our GNEM community have been looking forward to this moment when we will be able to participate in the ManNAc trial, and now it's here.  The National Institutes of Health (NIH) in Bethesda, Maryland has launched the long awaited Multi-Center Trial using MaNAc.  A total of 51 patients will be recruited for this randomized "double-blind" study which will be conducted at various sites within the U.S.A.  This trial will last for at least three years. See these links below for additional details:
https://clinicaltrials.gov/ct2/show/NCT04231266?cond=GNE+Myopathy&draw=2&rank=1

https://neuronext.org/projects/nn109-magine
Rare Disease Day Events:

GNE Myopathy is a rare disease and during the month of February there are many events to commemorate all rare diseases worldwide.  This year we will celebrate Rare Disease Day on February 29. Here are some activities that you may want to participate in:

Of interest to our GNEM community is a Symposium that will be held at the Sanford Burnham Prebys Center. There will be many presentations on Congenital Disorders of Glycosylation, hosted by Dr. Hudson Freeze. A well known GNEM researcher from the National Institutes of Health, Dr. M. Huizing will present on the "Basic Science and Clinical Results of ManNAc Therapy in GNE Myopathy."  

2.  What Makes You Rare: 
Join the NDF and the rare disease community in honor of Rare Disease Day by highlighting what makes you rare!  There is more to all of us than GNEM.  You may share a photo of you using the poster (What Makes You Unique Rare?) on social media using the hashtag #whatmakesmerare.  For more see this link:  https://curehibm.org/get-involved/whatmakesmerare.html

Recent News

The Neuromuscular Disease Foundation (NDF) continues to conduct Symposiums, Patient Days, monthly virtual Huddles, and webinars for patients and family members. As NDF strives to reach more and more patients around the world to increase the awareness of GNEM, it has launched a Podcast series where patients and caregivers openly share how GNEM is impacting their life.  If you are  interested in sharing your experience, please contact info@curehibm.org.  Here is a link to the first Podcast:  https://www.youtube.com/watch?time_continue=21&v=ifKCfO02OMQ&feature=emb_logo

World Without GNE Myopathy (WWGM) has started a series called GNE Myopathy Conversations.  For more, see this page :https://www.facebook.com/SupportGNEMyopathy/


Recent GNEM and Gene Therapy Articles

1.  Rare Diseases: Customizing Cures, Patient by Patient.  

2.  Four scientists with disabilities or chronic conditions share their conference conundrums and give advice on improving accessibility.

3.  Gene therapy involves introducing genetic material into a person’s cells to fight or prevent disease.

4.  Fighting the Cause of Alzheimer’s and GNE Myopathy Shreedarshanee Devi, Rashmi Yadav, [...], and Ranjana Arya.

**Over the years of living with GNEM, I have gradually cultivated some coping strategies to assist me with my many physical challenges that are ever present. Some of the coping resources I acquired over time and which I use to motivate myself are reading research articles on GNEM, novels, historical fiction, etc.  When a quote or passage speaks to me, I hold onto it with cherished reflection and renewed hope, so here is a repeat quote from one of my previous blogs:
"When you put together open medicine, open access, open source, and open data- open -all sorts of new channels of research activity become available, and existing ones become exponentially more powerful." 
(The Patient Will See You Now, by Eric Topol, p.211).




Wednesday, November 27, 2019

NDF Second Annual Art Gala Yields Incredible Results, International GNEM Scientific Consortium, & Upcoming Events


Getting ready for the Gala 
I am grateful and happy to be back writing this blog post after having two major surgeries, presumably unrelated to GNEM.

Thanks to the efforts and generosity of over five hundred and thirty donors, patients, scientists, and industry professionals the Neuromuscular Disease Foundation (NDF) has raised a total of $2.5 M in donations and pledges towards a matching grant. On Sunday November 17, 2019 the NDF held its second annual Arts Gala at the Skirball Cultural Center in Los Angeles, California, U.S.A. A gallery of beautiful photos of the Gala could be viewed here.
Skirball Cultural Center Setting up for the Gala 
Through this benefit event NDF raised the remaining balance to match the $2.5M challenge grant, bringing the total raised in grants, donations, and pledges in 2018 and 2019 to $5M. The Gala was sold out, as it has become a very important and popular event amongst our GNEM community and other stakeholders who are eager to get a cure for GNEM.  See Press release here
GNEM Researchers on Stage
The 2019 Gala featured work by talented artists, musicians, and honorees. There was a display of works by rare artists as well, loaned to NDF by the EveryLife Foundation.The event was captivating and joyful and everyone was treated to various  "epicurean" appetizers, dinner, music, dance, and comedy.  M. Etebar, a GNEM patient gave a unique and moving speech which can be viewed at NDF Facebook page at 1:10:00

Scientific Advancement Awardees 
Dr. N. Carrillo from the National Institutes of Health (NIH),  M. Minarich, CEO of Leadiant Biosciences and their team received the 2019 NDF Scientific Advancement Award for their work on ManNAc, a promising replacement therapy for those with GNEM. Additionally, the NDF presented five patients Maya D., (Israel), Mona P., (U.K), Kelly M., (Taiwan and China), Amy C., (USA), and Tara V. (USA)  with "All-Star" awards for various impactful work these dedicated patient advocates are involved with globally. The Etebars also were acknowledged for their dedication to raising funds with NDF's 2019 Philanthropy Award.

All Star Awardees 
Philanthropy Awardees
In addition to the Gala, the NDF held an International Scientific Consortium Meeting on Monday November 18, 2019, at the Marriott Hotel in Los Angeles, California USA.  More than thirty researchers and doctors came from different parts of the world to share, discuss, and present their data and projects.  These esteemed researchers are currently exploring various mouse models, substrates, vectors and re-analyzing patterns and data that may lead to a potential cure and or treatment for GNEM.
Scientific Consortium Meeting 
This special Scientific Consortium Meeting was open to patients, observers, and others with vested interest. These researchers came together to examine, discuss research projects and findings, and develop an action plan for how to move forward quickly with a cure for the patients. Here is a summary of many of the presentations. 

DisclaimerI am a GNEM patient and felt humbled and privileged to be present at this fascinating and deep learning event.  I am writing based on my understanding of what I heard, and I may have certain  inadvertent inaccuracies in my understanding.

1.  Dr. Carrillo from the NIH spoke on  the clinical trial for Phase 3 ManNAc. With ManNAc trial phases 1/2  (tested for safety and tolerability) they observed that ManNAc was processed into CMP Sialic Acid and enters into the cells to repair the pathway.  The longer a patient is uses ManNAc the more it increases stabilization of the GNE gene and has the potential to restore the pathway.   Additionally, they are learning important information from the Natural History study which was started in 2011 and is ongoing, which will help to show a disease progression model The NIH also has a large biobank of GNE samples which they would be willing to share with other GNEM researchers. The Phase 3 ManNAc trial is slated to start in the first quarter of 2020. Patients who have been using either Sialic Acid or ManNAc  for a year prior to the start of the trial will not be eligible. 

2. Dr. M. Huizing  from the NIH presented evidence for the various steps of ManNAc converting into  CMP sialic acid and the manner in which it enters and absorbs into the cells. 

3.  Dr. Darvish, a GNEM patient as well, and the CEO of  Orphina presented a treatment design model (H001) that he and his team has been working on for GNEM.  His team claims that they have completed safety testing on small as well as large animals. This treatment would use a non-viral supercoiled plasmid vector, repeat dosing is possible if once is not sufficient, and it would require vascular isolation of the limbs (arms and legs) with a tourniquet.  Dr. Darvish further claims that this treatment shows an increase in muscle fibers with lower immune response than the standard gene therapy.
  
4.  Dr. P. Martin from Martin Lab, Children's Hospital, Columbus, OH.  His lab focuses on the glycosylation in synapse formation  and research on muscular dystrophy.  He presented information on aav vector, mediated micro RNA, and intimated that we don't have a reliable animal model nor proof of concept in an animal model.

5.  Dr. M. Lek and A. Lek (both on the NDF SAC board)  discussed that their lab are conducting analysis on the samples they took from patients and families during various sponsored NDF Symposiums.  The findings will be shared with respective patients in due course.  Moreover, the Whole Genome Sequencing done by Perkin Elmer will examine if  there are gene/gene interaction of which this information will be available in the future.

6.  Dr. A. Bhattarcharya from World Without GNEM (WWGM), New Delhi,  India, presented information on their effort to further gene therapy.  Their organization gave out two grants earlier this year to researchers to explore cutting edge scientific projects that will expedite treatments for GNEM. Dr. Bhattarcharya postulates that  supplementing small molecules (endogenous source) may activate and restore mutant protein function at a molecular level. An Indian company has already developed aav vectors.

7.  Dr. O. Pogoryelova and Dr. Lochmuller from Lochmuller Lab, Canada presented on the "Newcastle" GNEM patient registry based on the Functional Activity Scale (FAS) and they argue that we need to "harmonize" all the registries.

8.  Dr. S. Rosenbaum,  Hadassah, Israel  discussed about  aav vector and that a stable mouse model is proving to be complicated.  Dr. Rosenbaum stated that we have no robust mouse model with the muscle phenotype, that the GNE gene is complex in the manner in which it attaches to the protein, and the GNE gene is responsible for two enzymatic activities. She further stated that she is currently working on aav platform to develop a vector and hypothesized that with systemic injections SA may enter the cells. She continued on to say we that have no real human proof of concept as of yet.
Drs. K. Crowe and W. Yoshioka  
9.  Dr. W. Yoshioka  and also a GNEM patient from Japan explained a project that her team is working on to isolate Sialic Acid from salivary glands, as saliva contains conjugated SA which may be a potential treatment. They are in very early stages of this exploratory work.

10.  Dr. N. Weisleder, Ohio State University, Columbus, OH, mentioned that his lab studies the various aspects of skeletal muscles and how repair could take place to damaged vacuoles/membranes.

Status of NDF Gene Therapy
The NDF's absolute focus is to expedite a cure for GNEM and has therefore engaged reknowned  researchers/scientists worldwide to this effect.  Many of the above mentioned research have in some part received grants or will receive grants from NDF. For a brief video on NDF's strategy on gene therapy please see this link:  https://www.youtube.com/watch?time_continue=4&v=LV19xElHBGg&feature=emb_logo

Disclaimer:  These are presentations made by participants at the NDF Scientific Consortium Meeting on GNE Myopathy on 11/18/19 and  some have not been peer reviewed.  NDF does not take a position as to whether the results are valid or reproducible.


My Take Away
I felt fortunate to be in the room, on the sidelines of this captivating Scientific Consortium Meeting, and to listen to these brilliant dedicated researchers discussing, engaging, arguing, and wrestling with their findings and potential experiments.  As I sat there absorbed  trying to make sense of the many medical and technical discussions, I couldn't help but feel an overwhelming sense of joy and deep pride knowing that these visionaries are on our side, fighting for us.  All of them are dedicated towards curing our disease.  We have many extraordinary "giants" working on GNEM and this gives me peace of mind. I also know that research, clinical trials, and finding cures take an incredible amount of time and diligence.  That is the nature of experiments. But I am heartened by these doctors' and scientists' willingness to interact with the people whose suffering they are trying to alleviate.  They have the courage to see us, not just as test subjects, but human beings in a fight for our lives.  For that I am grateful. 

Tune in to NDF's Podcast Series
Upcoming Events
1) Our monthly virtual Huddle 'Preparing to Expect the Unexpected" coming up on December 7. Register at this link:  https://www.facebook.com/NDF.HIBM/https://donate.curehibm.org/event/ndfs-patient-huddle-december-2019/e2572482)  

2) ManNAc trial- to begin early 2020.  Monitor site: https://clinicaltrials.gov/  clinicaltrials.gov

3) The NDF will debut a new monthly podcast series starting in 2020.The podcast will be posted at this link: https://curehibm.org/news-events/podcasts.html


Joseph Campbell from the Power of Myth:
"People say that what we're seeking is a meaning for life. I don't think that's we're really seeking. I think that what we're seeking is an experience of being alive, so that our life experiences on the purely physical plane will have resonances within our own innermost being and reality, so that we actually feel the rapture of being alive."


















Saturday, April 27, 2019

Upcoming Symposiums, Patient Day, and Recent GNEM News


"There is immense power when a group of people with similar interests gets together to work toward the same goals."  Wealth for All: Living a Life of Success at the Edge of Your Ability, - Idowu Koyenikan

This year our community has been very busy planning more events globally, as well as in the U.S.A.  We are having Symposiums in Philadelphia, Israel, and a Patient Day in Mumbai, India.  In addition, grants for research have been awarded to researchers to facilitate and accelerate a cure for GNEM.  We are quite fortunate to have our rare disease get the amount of attention that we are receiving.  Please see the upcoming events and news listed below.

NDF Will host Two Symposiums in May, One in Philadelphia, and One in Tel Aviv
The Neuromuscular Disease Foundation (NDF) will host its Sixth Annual Symposium in  Philadelphia.  This symposium has a line-up of  well known GNEM researchers and scientists, including Dr. Huizing from the National Institutes of Health (NIH), D. Klements, Clinical Research Manager, Massachusetts General Hospital, and Dr. M. Lek, NDF Scientific Director.  There will be counseling and physical therapy sessions for patients and family members as well.  Please register here:
https://donate.curehibm.org/event/ndf's-6th-annual-symposium-on-gne-myopathy-in-philadelphia/e226017


The NDF will also host a Symposium in Tel Aviv, Israel on May 29.  Among some of the presenters will be Drs. S. Rosenbaum, Z. Argov, M. Lek, A. Lek, and  M.Huizing. For more information and to register for this Symposium, please see this link:    https://donate.curehibm.org/event/ndf's-6th-annual-symposium-on-gne-myopathy-in-israel-patient-day/e217822

World Without GNE Myopathy (WWGM) Event in Mumbai, India, on June 2, 2019. 
World Without GNE Myopathy (WWGM) will hold a one-day event in Mumbai, India, on June 2, 2019.  For this event GNEM patients, researchers and industry professionals are invited.  Here is a sample of some of the sessions: GNE myopathy patient initiatives and Indian efforts in GNE myopathy, awareness, and treatment; NDF Patient Advocacy and Gene Therapy Progress; and GNE myopathy in the Middle-East.  For more about World Without GNE Myopathy, please visit this site:  http://gne-myopathy.org/#

Recent GNEM News

The NDF awarded 5 grants for GNEM Research and Programs for a total of $700,000.  These grants have been distributed to various researchers, who will  work to speed up GNEM gene therapy. Included in the total grants is also a gift to the National Institutes of Health (NIH) of $150,000 to help with the upcoming ManNAc trial for GNEM patients. For more details, check out this link to access the newsletter.
https://myemail.constantcontact.com/2019-Q1-Report--Hope-springs-eternal--.html?soid=1119021574814&aid=92eqarAlHcg

The NDF Launches a Monthly Patient Huddle

This is a peer to peer virtual support and mentoring group facilitated by GNEM patients. A wide range of topics are addressed at this monthly meet.  In the month of May the focus will be on "Trials and Tribulations of Toileting for Women Living With GNEM."
Please register if you would like to join:  https://curehibm.org/welcome.html

 The World Without GNE Myopathy Launched   A Center for  Drug Discovery (CDD)

 The CDD has been created to speed up discovery of GNEM treatments and other rare genetic diseases.  The CDD plans to fund strategic scientific research where there is a lack of research, in addition to funding targeted research that will bring about a treatment for rare diseases, such as GNEM.

ClinicalTrials.gov
The study details of an Open Label Phase 2 ManNAc in GNEM subjects could be seen at this link:
https://clinicaltrials.gov/ct2/show/results/NCT02346461?cond=gne+myopathy&rank=1

Website Listing Proposed Clinical Sites for Upcoming ManNAc Trial
NN109 Magine
Patients  who are interested in  the upcoming multi-center ManNAc trial may want to monitor this site:  https://neuronext.org/projects/nn109-magine

"We empower patients, build communities & drive forward momentum for rare disease globally."                                                 
I have been attending the Rare Advocacy Summit held by Global Genes for the past five years.  I have learned from researchers, caregivers, and patients on ways to share, empower, and network with my GNEM community.

After attending the first Summit, I came back with renewed hope knowing that I am not alone, my GNEM family is not alone, and that I have "giants" fighting for cures for rare disease patients.  If you are able to make this year's Summit, please register at:
https://globalgenes.org/event/patient-summit/

"The marvelous richness of human experience would lose something of rewarding joy if there were no limitations to overcome.  The hilltop hour would not be half so wonderful if there were no dark valleys to traverse."  Helen Keller





Thursday, January 31, 2019

Show Your Stripes, Spotlight on A Rare Disease Patient, NDF's Events for Rare Disease Month, and Relevant Information

" View change as the one constant in your life. Welcome it. Expect it. Anticipate it."  Denis Waitle

                rare disease day show your stripes campaign
                                                            Show Your Stripes

In the month of February 2019 our rare disease community has been dedicated to bring meaning and increased global attention to  all those who suffer from over 7,000 different rare diseases.  "The zebra with its distinctive stripes, is the official symbol of Rare Diseases Month in the United States."  NORD is promoting specific ways that our community can show our stripes, here is the link: https://rarediseases.org/



Spotlight on a Very Rare GNEM Patient:
My name is Mel and I am a 32-year-old African-American with GNE Myopathy (GNEM).  I was properly diagnosed with GNEM in January 2016.  When I found out that I have GNEM, a progressively debilitating disease, I was very upset, frustrated, scared, and confused. I did not know what this disease was, although I know it was a life-long disease. I did not know how my life was going to be thereby affected, and WHY this was happening to me.  I am the ONLY person in my entire family living with this condition.  No one else in my family suffers from GNEM, which makes me a unicorn in my family.

My first symptoms began in my feet, “dragging or dropping” in 2012.  I was falling for no reason, my feet felt just like they needed someone to help me pick them up, just to walk! This was when I knew something was very wrong with me.  First I went to a podiatrist who did an MRI of my feet and told me that he saw a lot of atrophy in both of my feet, which is not normal, so that I urgently needed to visit a neurologist.

As a result of suffering from GNEM, I have lost many friends because people don’t seem to understand, or even want to understand the way this disease affects my body and how it limits me from doing many things that my able-bodied friends are able to do.

I sill feel very self-conscious when I am walking in public because people stare confusedly trying to figure out why I walk the way I do or why I have to use a wheelchair to get around in a department store.  Although this disease restricts some of my activities, I still try to lead as normal a life as possible.  I just don’t go anymore to clubs and lounges where many people are present. I would rather just go out to dinner, go to the movies, or spend time with friends, or visit simple places where fewer people go.
  
 My family’s reaction today is much more supportive and understanding now than they were in 2012 when I didn’t know what was going on with me.  The more I spent time figuring out what was exactly wrong with me, the more supportive my family became, once I explained to them the nature of GNEM.  Now I don’t have to fight or argue with them, for example when I say I cannot do something, or that I need help doing a certain task, they understand and help me now.  

My biggest fear is losing ALL ability to move my arms, hands, legs, and feet on my own resources. In the future, I hope that scientists will soon discover a cure to help ALL of us who have GNEM. We need our strength and mobility back, along with ALL of our independence, so we can get back to living like we did before we got GNEM that took over our life and moved itself in.  Here is a link to a beautiful story written about Mel:  
https://marvelousgotsole.wordpress.com/2018/11/28/sole-disability/?fbclid=IwAR1-TWpOfTUPmGZwYN2FTnSwzRA9aT_zudXB_2pYfHCuY820C-Re8ipxSpY

Toya2
Photo credit, "Marvelousgotsole's" blog
Mel, I am very thankful that you agreed to share your story with me and graciously allowed me to post it on my blog. I can comfortably say that I have met many GNEM patients from many different ethnicities since my diagnosis, yet  I have met very few patients from our African American ethnic group. Is our African American group being misdiagnosed?

Rare Disease Month's GNEM Events Hosted by NDF
In the spirit of Rare Disease Month, the Neuromuscular Disease Foundation (NDF)  has planned activities focused on GNEM patients.  Among its many programs and projects, this year the Foundation has initiated two new programs for patients, families, and caregivers.  In keeping with its mission to improve the lives of people with GNEM the NDF has started a monthly support group and a biannual series of online seminars that address topics such as living with a chronic illness and the science/research behind GNEM.  Here are the links for  registration:  https://curehibm.org/news-events/upcoming-events.html

                                            hands_together_sand.jpg                                       
The NDF is hosting two events for GNEM patients in support of Rare Disease month.
1.  Patient Huddle, a virtual support group that focuses on Cognitive Health and Well Being which is only for GNEM patients.  Please register here to join: https://curehibm.org/news-events/upcoming-events.html
2.  Online Seminar Coping with Disappointment and Grief, facilitated by Dr. Gretchen.  You may register here for this session:  https://curehibm.org/news-events/upcoming-events.html

Other News regarding GNEM Since My Last Blog
1.  The NDF held its Gala in November 2018 and which was very successful in raising $.1.7 million towards its $2.5 million challenge grant.  
2.  In January, the NDF's Scientific Advisory Committee (SAC) met to review proposals submitted by  GNEM scientists.  The SAC will submit their reviews of these proposals along with their recommendations to the NDF's board for funding, which will take place in late February, 2019.
3.  The National Institutes of Health (NIH) is still planning to start its multicenter ManNAc trial this year.  Please check for the recruitment status and updates at this site:https://www.genome.gov/27567243/gne-myopathy-clinical-studies-at-nih/

"Fighting for a better quality of life is a constant.  You need to wake up each morning and ask yourself, how can my life be improved."  Surviving and Thriving with an Invisible Chronic Illness, Ilana Jacqueline

                                                                     
                                         

Monday, November 26, 2018

The Fight of my Life and That of our GNEM Community




Once you choose hope, anything is possible"    Christopher Reeve

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 answers or solutions. And to make matters even worse, your siblings display the same symptoms. This is my story and that of my four other GNE Myopathy affected siblings.

By the year 2000, my symptoms were severe enough to interfere with my life. I began to fall and to have other mobility-related accidents. I started wearing a leg brace, hidden under my long pants so that my children wouldn’t worry. What I found to be the most frustrating was that I could not be physically spontaneous anymore. I couldn’t jump in the car to run a quick errand, or go to the beach and walk barefoot in the sand. Everything took time and extra effort.

Finally in 2010, when my doctor told me I had GNE Myopathy, my first sense was that of relief. An unusual reaction maybe, but the doctor's words were an answer to a decades-long family mystery. It had been forty years since then my eldest sister Kamla, began walking with a mysterious waddling gait. This disease eventually became our constant, nameless companion, until, finally, this mysterious disease had a name. That was a turning point, the beginning of a new path that was lined with hope. Still, it took courage for me to walk that path, as I realized that I would follow in Kamla's faltering footsteps, with the loss of mobility,  independence, and  ultimately confinement to a wheelchair.


Daily, I continue to experience physical challenges. Now I wear two leg braces and use a wheelchair more often than not. I need assistance to maintain my household and even to do something as simple as feeding my cats. It takes me five times longer than before to do such little tasks as dressing myself and getting in and out of bed. I choose hope, and therefore will not allow these challenges to stop me from attending an adaptive physical exercise class, and assisted swimming to slow the progression of GNEM.

I have seen the whole spectrum of devastation that GNE Myopathy brings.  It has ranged from my eldest sister to my younger brother, who is now completely immobile and dependent on others for care. I realized early on that I must be an advocate for myself and for my fellow GNE Myopathy survivors. I am motivated by a deep sense of duty to help others get faster testing and diagnosis by connecting them with the right support groups and resources.

My mission is to focus my efforts on expanding awareness of GNEM, on the importance of genetic testing, and connecting patients to the latest research. I have been fortunate to meet others living with GNEM, face to face as well as through my blog, social media, and the global online communities at curehibm.org and gnemyopathy.org.   Through it all, I am touched and inspired by the grace with which we handle our challenges. The indomitable spirits of my GNEM family and friends keep me going, working tirelessly to expand awareness of the disease, to find more patients to enter research studies and share resources, and ultimately, to find a CURE.

I remind myself often that on this journey of living with GNEM, I must undergo some remarkable personal challenges and push myself to clear these recurrent physical and emotional hurdles. I must come to a place of acceptance within myself as I witness my physical decline. I have learned that acceptance is not failure. Acceptance frees me intellectually and emotionally to continue the battle, a battle of our GNEM community, until it is won.


I think we are close to winning the battle… through GENE THERAPY. The Neuromuscular Disease Foundation (NDF) is at the forefront of exploring gene therapy as a viable treatment or cure for GNE Myopathy. I am proud to be one of two Patient Advocacy Program Managers working hard alongside their dedicated team to improve the lives of people living with GNE Myopathy through patient advocacy, and the funding of clinical research through collaborations with scientists and physicians worldwide.

When I had those first frightening episodes of weakness, stumbling, and falling as a 32-year old professional woman with two young children, I never thought I would be asking for money for research to combat a progressive debilitating disease. But I am fighting for my life. I ask you to be as generous as possible to fund research for treatment or a cure for many others struggling with GNE Myopathy.

This is where I need your help. The Neuromuscular Disease Foundation is positioned to bring us gene therapy. Thanks to a game-changing matching grant received by a private foundation that chooses to remain anonymous, we have the opportunity to fund our efforts in gene therapy, the only hope for cure. This year we have already raised an impressive $1.7 Million toward our matching grant of $2.5 Million. In order to receive the grant money, we need to raise an additional $800,000 in the next few months.

To make a donation you may make checks payable to NDF and mail them to 269 S. Beverly Drive #1206, Beverly Hills, CA 90212 or use a credit card, click the DONATE button. Please note 100% of your donation is tax deductible and goes towards gene therapy.  https://donate.curehibm.org/fundraiser/1728680


Thank you





Thursday, September 27, 2018

We All Want a Cure for GNEM: Find Out More in this Recap and Video Presentations of the NDF Fifth Annual Symposium and Upcoming GNEM Events




Most people in the GNEM community ask questions such as the following: (1)  Why is there not a cure yet? (2) What is the NDF doing to promote a cure? (3) When will the next ManNAc trial begin? (4) When will gene therapy begin?  At the NDF Fifth Annual Symposium these questions and more questions were answered. There are over 7,000 rare diseases for which only 5% have approved therapies. Therefore we are quite fortunate that our disease (GNEM) has been  attracting more doctors and researchers to collaborate with organizations like the NDF to find an effective cure.

The NDF has been asking:  "Why is there not a cure yet?" It has been pursuing an effective therapy since its inception in 2006. This is the reason, the NDF has been having  yearly Symposiums to connect the brightest scientific minds involved in GNEM research with  GNEM patients face-to-face. The reason NDF exists is to get a cure for GNEM patients, and it has never faltered from its mission.  A CURE and this pursuit continues to be its modus operandi (MO).

The focus this year consisted of a continuation from the last year's Symposium that brought researchers and patients together to continue exploring every avenue for a possible cure.  Each year the researchers present their current findings and research. This Symposium was attended by patients from throughout the world specifically the Ivory Coast, Italy, Israel, Germany, India, Korea, Nepal, Canada, and the United States. Many patients received travel stipends, accommodations, and meals during this time.
Lale' Welsh, CEO of the NDF, commenced the Symposium with a brief update on all the projects that the NDF undertook last year and are continuing into this year. You may see the update at this video link.
Professor Sudha Bhattacharya from India, representing  World Without GNE Myopathy, attended the Symposium; and she has written a summary of the events described below.  I have added accompanying video links in addition to her summary. 
A summary for the benefit of patients who could not attend prepared by:
Prof. Sudha Bhattacharya, Trustee, World Without GNE Myopathy (WWGM)

Rehabilitation strategies and advice for patients- (Video Link)
Dr. Galen Joe and Mr. Joseph Shrader from NIH demonstrated some of the exercises for patients.
They mentioned the following points that will help patients.
 You should be aware of the barriers in your home/work place that affect your activity. You should ensure that you have safe mobility and functioning in your environment.
-        Posture is very important. It will help to maintain your core strength which will give improved energy.
-       You can work your core muscles by the following exercise: sit straight without support; raise your arms till shoulder level and breathe deeply.
-       Simple exercise for core strength- Sit straight on a chair. Rise up from chair. Repeat 10 times. If finding difficult you can place a thick sponge or cushion on the chair before sitting
-       Recommend aerobic/cardio activity for at least 150 minutes per week. It should be spread out during the week rather than exercising occasionally. Regular exercise is recommended at the level suitable to each individual.
-       Exercise precautions: Do not overload any muscle. Train at sub maximal intensity. Important not to over use any muscle. Exercise and condition all muscles- not just the weak ones. While exercising think of groups of muscles rather than individual muscles.
-       Foot braces should be of light material so that foot comes down easily when you take a step.

Regarding Therapy for GNE Myopathy
ManNAc trial by NIH-
Dr. Marjan Huizing (NIH)  (Video Link)
Phase 3 trial is planned to start from beginning of 2019. Ms. Kennan Bradley (NIH) will be handling it.
International patients can also register. Write to Kennan Bradley for details (kennan.bradley@nih.gov)  Patient screening for the trial will start in the beginning of 2019.
Objectives of phase 3 trial-
-       To measure whether progression is slowing down
-       Long term safety
-       Evaluate effect on physical function and activities of daily living as noted by the        patients
      -   4gm ManNac x thrice daily will be given in the trial. It will be implemented through     NeuroNEXT. 
The investigators are Dr. Amato (Harvard) and Dr. Nuria Carrillo (NIH). Pharma Company partner for the trial is- Leadiant Biosciences
Duration of the trial will be 24 months. 51 patients will be on the trial, of whom 17 patients (33% ) will be on placebo (patients on placebo do not receive drug).
Inclusion criteria- Those patients are eligible for whom both GNE mutations are known. That is, the two GNE mutations which each patient has, are both known. Genetic test should be certified.
End point- Quantitative muscle strength (QMA) will be measured to know how well the drug worked.
The analysis is regarding whether there is a slowing in rate of progression
Nancy Parsons (representative from Leadiant Biosciences, the Company partner for the trial) (Video Link)
She described the experience of their company in developing drugs for genetic disorders. NIH had approached them to bring ManNAc to patients. They have looked into manufacturing process of ManNAc, and how to optimize it. They will also design the trial to meet FDA guidelines. (FDA is the US regulatory body that approves clinical work and new drugs).
Leadiant also looks into pricing, and that the drug should be available to each patient. Will look at reimbursement policy (This would perhaps be relevant for US patients).

Data from ManNAc phase 1 and 2 studies already completed by NIH (Video Link)
Patients were given 3g, 6g, and 10g ManNAc (each dose), twice daily. 6g showed better result than 3g, but higher dose of 10g did not show better results than 6g.
Phase 2 trial was for 30 mth. It has just concluded.
MRI-guided muscle biopsies were taken in phase 2. These were examined and showed improvement in patients taking ManNAc.
They measured disease progression by MRI, functional tests, and patient-reported outcomes. The statistically analyzed, detailed results will be available by Dec 2018.

Some conclusions from phase2-
ManNAc did not show any adverse side effects (except complaints with digestion, which were quite common). It was generally well tolerated by patients.
Taking a single high dose of ManNAc is not as beneficial as taking multiple smaller doses. They recommend 4g, thrice daily rather than 6g, twice.

Gene Therapy-
The consensus in the meeting was that Gene therapy is the most promising mode of treatment for GNEM and deserves to be pursued urgently. We need robust funding to develop the technology, test it and obtain FDA approval. One can expect a minimum of seven years for FDA approval for drug use, after we start the work. Work has to be started fresh since the earlier work done by Jerry Mendell is discontinued.

Lale Welsh (CEO, NDF) (Video Link) informed that they have commitment of $2.5 million from anonymous donor as matching grant to be used only for gene therapy. Matching grant means they will have to raise funds ($2.5 mn) of their own to get this grant. This money will be used for gene therapy studies for phase 1. After that it will be taken up by biotech/pharma company. They are in touch with companies like Sarepta.
The study has to be carefully designed with the help of experts so that it meets the requirements of FDA. Otherwise approval will not be granted for clinical trials. It is not clear to me exactly who will be conducting this study.

Other Studies-
Dr. Madhuri Hegde (Emory Univ., USA and Perkin-Elmer) (Video Link)
She will be doing whole genome sequencing (WGS) of 100 GNEM patients. (WGS means studying the DNA sequence of ALL the genes and not just the GNE gene alone). The idea is to understand whether any other genes (other than GNE) are important in giving the symptoms of GNE myopathy. This is because patients differ a lot in disease progression and symptoms. Even siblings of the same family show difference in disease severity and progression. It could be that other genes have an effect.
Dr. Monkol Lek and Dr. Angela Lek (Yale Univ., USA)  (Video Link)
They will be collecting patient skin samples to do RNA sequencing. This will give them information about the differences between GNE myopathy patients and healthy individuals in terms of their RNAs. If any RNAs are found which are clearly different in patients, that is, their levels may be increasing or decreasing in patients, these can be useful to look at disease progression, and to monitor future therapies.
They will also do WGS (DNA sequencing) from patient blood samples.

Patient session (Video Link)


Amy Curran (GNEM patient) and Jonathan Pizzi (Program Managers, NDF)
They gave useful tips for patients. They gave suggestions about nutrition, and about gadgets that can help patients to negotiate daily tasks. Some examples are as follows. Further information on these gadgets is available on the Internet.
-       EazyHold (Kerry and Merrily) from The EazyHold company were present to demonstrate assistive  implements  –made of silicon and helps to hold small or large objects
-       Moving Life makes a foldable scooter for mobility
-       Walkers – Nitro Euro - rollator
-       In the kitchen can use Multi Opener which is 5-in-1 to open bottles, cans, jars etc.
-       Bed - ProBed which can help patients turn sides.
-       Bathroom - to make the floor less slippery you can put small floor tiles- 1 inch x 1 inch, or 1 inch x 2 inch. ShowerBuddy is a user friendly accessory for the shower.
-        Living area - can use Clamp Champion- a large clamp that can be fit anywhere- say on the arm of your sofa. You can fit your laptop or tablet or phone to it while sitting on the sofa.
-        Mount n Mover- To mount devices on wheel chair, bed, table etc.
-         Alber Scalamobil- is a stair climber for wheelchairs.
-         For details,  visit adapts.org
In addition to Dr. Bhattacharya's summary, there were private sessions for patients and caregivers with a psychologist and a social worker respectively.  There was a separate lounge with snacks and refreshments available for all patients.  This was a very helpful and meaningful addition to the Symposium this year, as patients and caregivers were then able to meet together prior to the Symposium.
After all the sessions of the first day, there was a reception/dinner accompanied with live music.  At this dinner the NDF enlisted four more Certified Patient Advocates from Germany, India, the Ivory Coast, and Israel.  
Besides the many events of the Symposium, we were able to see through the eyes of Saskia, a GNEM patient from Germany a video log of her trip to Peru.  Here is a link to her Jungle Expedition:https://www.youtube.com/watch?v=QA4x2vSkUjQ&feature=youtu.be

Also, Dr. Sepideh Tabibian presented Holist Approach for Coping with GNEM.  Here is a link to her presentation:  https://www.facebook.com/NDF.HIBM/videos/vl.2159531020989886/500981303706758/?type=1

For the past two years I have been attempting to get  an official from the City of Los Angeles to attend the NDF Symposium in order to make a declaration on behalf of GNEM patients.  This year, the offices of Mayor Garcetti were kind enough to send Mr. Jasson Crockett from the Department of Economic Development to present the NDF with a Certificate of Congratulations for NDF's dedication in finding a cure for GNEM. In conclusion, I want to express my sincere gratitude to all the GNEM patients (my dear friends), their families, and the researchers who attended this amazing Symposium.  Here is a video link for this. 

Upcoming Events within our GNEM community:

1.  WWGM is participating in Airtel Delhi Half Marathon on October, 21, to build awareness around GNEM and to raise funds towards research and treatment
For more, please visit:  https://www.facebook.com/SupportGNEMyopathy/
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2.  NDF Gala for the Arts:  Join the NDF on November 11, 2018 to celebrate a unique evening or art and music.
The NDF is looking to raise funds to support a $2.5 million challenge grant provided by a private foundation.  The funds raised will support our efforts toward therapies for GNE Myopathy. For more, please visit:http://curehibm.org/