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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/

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