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

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/
Image may contain: one or more people


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/



Thursday, August 16, 2018

NDF Fifth Annual Symposium About GNE Myopathy, Recent Events Around the Globe, and Dig Deeper, Learn, and Empower Yourself

Let us seek to invoke the wonders of science...
explore the stars, conquer the deserts,
 eradicate disease, tap the ocean depths,
and encourage the arts and commerce
-John F. Kennedy-


                        NDF Fifth Annual Symposium August 30 and 31, 2018 at UCLA



On 30 and 31 August the Neuromuscular Disease Foundation (NDF) will host its Fifth Annual Symposium. This Symposium has a line-up of  well known researchers, scientists,  physical therapists, patients, advocates, and caregivers besides family members attending.  It will be a two-day, fact-and-fun-filled event that will include up-to-the-minute information, panel discussions, and individualized breakout sessions. The NDF is offering travel scholarships, lodging, and meals to patients and their accompanying caregivers.   If you have not yet registered, here is the link to do so.

Ever since August 2017, when Ultragenyx terminated the Sialic Acid (Ace-ER) trials due to their failure to determine the efficacy of Ace-ER; the NDF has been resolute in exploring all other avenues for an effective treatment of GNEM.  For this reason, the NDF has been consulting and engaging researchers to examine the GNE gene in greater detail because there seems to be  a consensus among researchers that we still do not know all the attributes of the GNE gene; hence the Perkin Elmer Genetics Study on Whole Genome Sequencing was initiated. Further, the NDF  has appointed Dr. Lek as its Scientific Director earlier this year.  Dr. Lek plans to study samples of blood and skin needle biopsies of patients to bring us further understanding of GNEM.  For patients and families interested in submitting their samples at the upcoming Symposium, please contact the NDF.



NDF Goes Global
Although this year may seem like not much is happening within our GNEM community, a substantial amount of work has been going on towards getting an effective cure for GNE Myopathy.  Since last August the NDF has certified a group of Patient Advocates who have since returned to their respective countries and organized Patient Days.  With these Patient Days we are discovering more and more mis- or undiagnosed patients.  Recently, Patient Days were held in South Korea, Italy, Israel, Turkey, and the United Kingdom.  For more on these events check out this link.

                                                IMAGES OF PATIENTS' DAYS
Patient Day South Korea
Patient Day, Italy

Patient Day Israel

Patient Day, Turkey

Patient Day, United Kingdom

In addition, World Without GNE Myopathy (WWGM) organised a conference in February in New Delhi.WWGM is also working diligently to increase the awareness of GNEM.  For a write-up on this event, refer to this link.

                                                    GNE Myopathy Conference in India
Dig Deeper, Learn, and Empower Yourself  About GNEM  

1.  There are more than 190 mutations known to  researchers.

2.  There has been a scientific calculation that shows that the prevalence of GNEM in the world population is 6 cases per million,therefore our disease has been definitely either mis- or under-diagnosed.

3.  Sialic Acid is a substrate (Ace-ER) that was withdrawn in August 2017 due to its  failure to prove efficacy in its Phase 3 trial. Ultragenyx, mentioned last year, it is now working on a Pro-drug.

4.  IVIG therapy was tried, but with very little sustained-strength improvement resulted from this therapy.

5. Gene therapy using Lipoplex was tried as a compassionate use on one patient. So far, not much has been reported on this trial, although the "proof of principle" has been demonstrated.

6. The NIH will start Phase 2B later this year using ManNAc, another substrate.

7.  The NDF, in collaboration with Perkin Elmer Genetics, launched a Whole Genome Sequencing, a project to further the understanding of the molecular pathway of the GNE gene. This study started in early 2018.

8. The NDF appointed Dr. Monkol Lek as its Scientific Director earlier in 2018.  Dr. Lek plans to further the understanding of the GNE gene by using samples of blood and skin biopsies of volunteer patients and their first-degree family. There is nevertheless much more to know about the GNE gene.  Dr. Lek's hope is that the results of this project may lead to future effective therapies.

My Commentary - The Enigma of GNEM
It is my current understanding  that for gene therapy to be effective, that it may be transferred only once.  Therefore, if there is only one chance of an effective treatment, we will need to be absolutely sure that this form of therapy will be the one and only sure cure.  We must know beyond any reasonable doubt that whatever form gene therapy comes in, it should be effective and will not cause serious debilitating medical problems. If I could be presumptuous enough to speak for others, I would like to see a therapy whether or not it would be gene therapy, gene editing, small-molecule RNA, or something else to reverse, restore the depleted muscles and stop all progression of the disease.
Presently, it seems like there are still issues that need to be explored in order to understand more in-depth about the GNE gene.  We need to examine  to what extent other genes are interacting with the GNE gene.  If other genes are interacting with the GNE gene,  do they play a role in the onset, symptoms and potential recovery of GNEM.  Some lingering questions for me are why my siblings who have exactly the same mutations  that I do, show varying degrees of symptoms, severity,  progression, including age of onset.

Some in my family have been hoping for a cure since the mid-1970's, and I likewise have been waiting and hoping for a miracle. Nevertheless, hope seems to sometimes elude me.  In the meantime, I will continue to pour out my efforts into finding more patients, assisting more patients, and more families to get appropriate resources, definitive diagnosis, and mentor others to advocate for GNEM.


Monday, April 23, 2018

Recent and Upcoming Events Within Our GNEM Community: WWGM Conference in New Delhi, India, First NDF Online Seminar, A Patient Epic Challenge Across the Grand Canyon, GNEM Advocates Host Patients' Day in Turkey and in the United Kingdom

WWGM Conference in New Delhi, India (1)
WWGM organised its first ever GNE myopathy conference and patient day on ‘Perspectives in GNE Myopathy: Research, Clinical Management & Patient Care’ on February 16-17, 2018 in New Delhi. The conference was attended by close to forty patients and caregivers and close to thirty scientists and doctors from ten different countries. The conference brought patients, scientists and doctors together over intense rounds of discussions on various aspects of GNE myopathy for a packed two days.

The conference was inaugurated by Dr. V.K. Paul, a member of India’s leading central governmental planning body called the NITI Aayog and Dr. V.M. Katoch, former Director General of the Indian Council of Medical Research, who were both very encouraging about the role that patients can play in developing drugs for rare diseases.

 In addition, the speakers at the conference included leading scientists and doctors working in the field of GNE myopathy and in allied fields with possible applications to GNE myopathy. Some of the areas discussed included
  • The basic understanding of GNE myopathy, why it is caused and the science behind it.
  • The medical symptoms that patients of GNE myopathy show and the general characteristics of patients.
  • Possible treatments and therapies such as gene therapy, sialic acid and ManNAc supplementation, stem cell therapy, small molecule therapy and alternative therapies such as Ayurveda. The discussion involved what could be the best way forward to treat GNE myopathy.
  • Different ways of diagnosing and testing GNE myopathy including how data collected from MRI and gene testing could be helpful.
  • Collecting patient data through registries.
  • Ways of managing GNE myopathy and the disability caused by it.

 Some interesting insights provided at the conference included:
  • There was an interesting debate on whether sialic acid deficiency is the primary problem that needs to be corrected to reverse symptoms of GNE myopathy. There were different views on whether the deficiency of sialic acid is the sole reason for the symptoms seen in GNE myopathy. The conclusion is that there is insufficient data to conclusively prove either side.
  • The Ultragenyx trial may have failed for some technical reasons and not due to inefficacy of the SA-ER drug - such as the fact that the criteria for determining efficacy of sialic acid was changed in phase III of the trial.
  • NIH is conducting a phase III trial for determining efficacy of ManNac in reducing the rate of progression of GNE myopathy. They will be recruiting 50 patients across different centers in the US. International patients are welcome.
  • A workshop is being planned in Europe in September 2019 where all GNE myopathy scientists are meeting. The aim is to brainstorm for future therapies/clinical trials for GNE myopathy.
  • Small molecule therapy may be a promising and faster to develop alternative treatment for GNE myopathy.
  • Other suggestions for possible alternative drugs that could be taken by patients include Arimoclomol- a drug to slow muscle degeneration; N-Acetyl Cysteine (NAC) for muscle atrophy and sialyllactose which might be more effective than sialic acid.
  • Potential gene therapy resources in India: Dr. Arkasubhra Ghosh (GROW Labs, Narayan Nethralaya, Bengaluru) has extensive experience in gene therapy using AAV vectors. After joining GROW labs as Director he has set up a clinical grade vector production facility for AAV vectors and is in the process of conducting a gene therapy trial for an eye disease.
  • Potential stem cell therapy in India: Dr. Sujata Mohanty (AIIMS, New Delhi) has set up a state-of-the-art stem cell facility at AIIMS. They have taken the skin cells from patients, including one DMD patient and made induced pluripotent stem cells (iPSCs).
  • The maximum number of confirmed GNE myopathy patients in India have been correctly diagnosed by Dr. Nalini at NIMHANS, Bengaluru and by Dr. Khadilkar at Bombay Hospital, Mumbai.
  • Age of onset in Indian patients is generally 25-29 yrs. It is later for patients with both mutations in kinase domain compared with those in epimerase domain, or one mutation each in epimerase and kinase domains. Mutations are spread throughout the GNE gene. The most common mutation in Indian patients is Val727Met. It is found in 70% patients.
  • Strand genomics (Bengaluru) also do DNA testing for GNE myopathy in India. Dr. Mannan from Strand informed about the extensive sequencing done by them for a large variety of rare genetic disorders.
  • The benefits of yoga were demonstrated through a live yoga session.
The patient day ended with a sightseeing trip to see the sound and light show called ‘the love for Delhi’ at the Old Fort in Delhi.

For further enquiries or more information please visit www.gne-myopathy.org or write an email to wwgm.india@gmail.com

(1) Summary of this event submitted by Drs. Shilpi Bhattacharya, Sudha Bhattacharya, and Alok Bhattacharya
Some Images from this event:


Meeting the Researchers

Time for Yoga and Stretching
Shilpi (WWGM ) And Andrew (NDF)


NDF First Online Seminar

The Neuromuscular Disease Foundation (NDF) held its first online seminar series on April, 14, 2018.  Nancy Lurie, Director of Operations, introduced the presenters:  Lale' Welsh,  Dr. Monkol Lek, and Dr. Marjan Huizing. There were thirty-eight attendees from nine countries. Lale' Welsh, CEO of the NDF,  presented information on the current projects that the NDF is working on in order to expedite an effective therapy for the GNE Myopathy patient community; which is done by advocacy, outreach, education, besides collaborating globally with other GNEM scientists.  Some of the areas that the NDF is currently working on include the Pre-Ind phase for gene therapy, enlistment of GNE Myopathy patients from around the world to hold events in their home countries, such as a "Patient Day" to educate their communities about GNEM, including launched a consortium of researchers who have agreed to share new data on GNEM.  In addition, the NDF is collaborating with Perkin Elmer to conduct Whole Genome Sequencing paired with metabolomics on 100 GNEM patients.  The NDF is inviting patients to submit their genetic mutations for analysis.  To submit your relevant paperwork, please send to: curehibm.org

The NDF has recently appointed Dr. Monkol Lek to their Scientific Advisory Committee.  Dr. Lek is an Assistant Professor of Genetics at the Yale School of Medicine.  During his time at the Broad Institute, Dr. Lek lead the exome/genome analysis of MYOSEQ which has resulted in a novel disease gene discovery.  Dr. Lek made a presentation on exomes and the whole genome including the variants and the proteins that encode our genes.  Accordingly, Dr. Lek is an invaluable addition to the NDF Scientific Board as he himself suffers from LGMD, a muscle disease, and so he will be able to relate more fully to  the plight and concerns of  the patients.
Dr. Lek did mention that GNEM patients may well be interested in reading up on gene editing and the gene replacement approach.

Dr. Huizing from the NIH presented on both the pathway and synthesis of Sialic Acid within the cells. She mentioned that GNEM patients can still make Sialic Acid, but the amount is decreased.  In addition, she noted that when ManNAc is taken, studies show that it enters the cells and is maintained in the blood stream for 8-10 hours.  Then, tests show SA in the urine; therefore we know that ManNAc is used by the cells, and then it is converted into Sialic Acid. Dr. Huizing mentioned that later in 2018 the NIH will start a multicenter trial using ManNAc where they will be able to accept 51 patients with a 2:1 ratio of ManNAc to a placebo for a duration of 24 months. For more on this study, please visit the NIH website.

Sialic Acid Pathway
Sialic Acid Pathway within the cell (NIH)
This online seminar was very educational indeed and was attended by 38 patients and presenters from nine countries.  Please monitor this site for updates on the the next seminar.

Upcoming GNEM Events Around the Globe
Inviting Patients to Submit Genetic Mutations for Potential Analysis

The NDF is collaborating with Perkin Elmer for Whole Genome Sequencing paired with metabolomics.  The NDF  is inviting patients to submit their genetic mutations for analysis.  To submit your genetic mutations, please send to info@curehibm.org
To read more on this project click here.

Cara, a GNEM patient who took on a 200-mile expedition through the Grand Canyon
Cara and her team


In the month of April Cara  has embarked on an epic challenge to traverse the rugged terrain of the Grand Canyon.  Her goal is to shatter the stigma of those living with disabilities and to increase the awareness of her rare muscle disease GNE Myopathy. She is partnering with Film Independent to document  her journey into the Grand Canyon. For more on her story, to find out the release date of her film, and to donate, please visit:  http://www.princessrising.com/

At their 2017 Symposium The Neuromuscular Disease Foundation (NDF) enlisted dedicated patients worldwide to become Certified Patient Advocates (CPAs).  Since then these CPAs have organized Patient Day events in South Korea, Italy, and Israel.  In the coming months two such events are planned for Turkey and the United Kingdom.  Here are the details for the upcoming events.

GNE Myopathy Patient Day in Istanbul, Turkey, May 07, 2018
Capa Medical School

This is the first-ever GNE Myopathy Patient Day will be held in Istanbul,Turkey, on May 07, 2018, at the Istanbul University at Capa Medical School.  This event has been organized by Dr. Suleyman, an NDF Patient Advocate, Turkish Neuromuscular Disease Association and others.  For more information, please visit this link:   https://donate.curehibm.org/event/ndf-patient-day-on-gne-myopathy-istanbul/e173623


GNE Myopathy Patient Day in Manchester, United Kingdom, August 03, 2018
Joining Global Forces to Cure GNE Myopathy
Mona, an NDF Certified Patient Advocate has organised a patient day in the United Kingdom to take place on August 03 at Manchester Metropolitan University.  The theme for this event is " Educate, Enable, and Empower." This event has been organised to encourage individuals affected by GNEM to come together to hear about recent research and to share their experiences with each other.  For details, please refer to this link. 

Save these dates -- August 30-31 for the NDF  Fifth Annual Symposium  More Details to follow.

Ultragenyx Patient Day
I was very honored to attend the recent Ultragenyx Patient Day in Novato, California.  Ultragenyx holds a very precious place in my heart as this bio-pharma company is making headway against many obstacles to find therapies for rare disease patients. At their annual event they honor patients, families, advocates, and caregivers with a day long celebration of food, games for children, and music.  Here are some images.
The offering of this  Mighty (travelling) Mug 

It takes more than one GNEM patient to hold this Mighty Mug