Spring 2019 Newsletter

Thank you to all of you who stepped up and contributed to a wildly successful 2018! I am pleased to inform you that we've been working hard and are firmly on our way to palpable scientific progress, which you can read about below.

Our Board has approved our research grants for the year, which will help expedite treatments and support gene therapy .

And we've also earned the respect of watchdog groups by attaining the highest possible standards for transparency and compliance so you can be sure your donations are being spent strategically and in keeping with our collective mission .

For example, this year we are combining our programs by taking our symposia "on the road" to reach the highest numbers of patients, scientists, and donors all at once - and combine each event with an opportunity to conduct screenings and collect samples that will simultaneously maximize our research while saving time and money.

NDF now has presence in 26 countries (and counting) and as our reach and workload increase exponentially , we try to streamline some of your more pressing questions into an FAQ document that you can find here .

Again, congratulations on being part of this winning team and I thank you on behalf of patients everywhere for your time, interest and support. Stay tuned for our Impact Report coming soon!

Best Regards for a healthy and happy Spring Season and Happy Nowruz and Purim to those who celebrate.

Lale' J. Welsh,
NDF Chief Executive Officer.
Following NDF's pledge of a $2.5 Million match grant, the number one question most people ask is about how much we've raised in matches so far. So let me get straight to the basic breakdowns and address some frequently asked questions.

1. Where is NDF in the Fundraising process?

  • Including the first million of the grant, we raised a total of about $2.7M in 2018 (including individual pledges).
  • Today, in addition to collecting on pledges made last year, we are on track to collect the $1.5M remainder of the grant and now need to raise that much again in new donations and pledges for a total goal of $3M in 2019.
(Please note: In order to keep this funding we need to obey federal regulations regarding the "IRS Tipping Law" which means we need the commitment of every single stakeholder in our community to ensure compliance and avoid losing this auspicious and timely opportunity for a cure.)

2. When will you begin Gene Therapy?

  • Gene Therapy is already in progress and has been since 2017.
  • Gene Therapy is a complicated 5 step process: 1. PreIND 2. IND (Pre-Clinical stage to ensure proof of concept and safety in animal models) 3 . Phase 1 4. Phase 2 5. Phase 3. (Phases 1-3 are clinical stages where human patients are dosed in a clinical trial).
  • We have completed step 1, and are working towards filing an IND in step 2.
  • All of the scientific proposals we granted in 2019 are directly linked to the second step in the gene therapy process. Step 2 is the effort to answer the questions from the FDA that were posed at the end of our pre-IND process with Dr. Mendell at Nationwide Children's Hospital. Without these answers we cannot move to step 3 or Phase 1.

3. What can patients do while they wait for the science?

While our consortium of scientists around the world work on our behalf to further science, we continue to work on behalf of GNEM patients everywhere to further expand and enrich all of our programs, including advocacy and outreach/education. Our symposia continue to bring together patients and scientists in forums that:
  • Create opportunities for scientific collaboration
  • Allow for the congregation of patients and collection of samples
and information that help us grow our very valuable database and biobank.

Much of our recent funding has come as a direct result of our advocacy and awareness programs. These efforts are inexorably tied and without them we are half as effective.

If you are a patient, carrier or related to one, please consider joining us at one of our upcoming events, listed below and stay tuned for information about our 2019 Gala being planned for November in Los Angeles. In the meantime, please consider helping our efforts by making a one time or recurring donation to help us reach our lofty $1.5 Million goal for 2019.
Click here for more questions and detailed answers.
Click here to download our FAQs in a PDF
6th Annual Symposium on GNE Myopathy Expands to Multiple Cities Worldwide
Our reach continues to grow.

In our efforts to increase our outreach and education to more members of the GNEM community throughout the world, this year NDF will host multiple events in multiple cities. Currently open for registration are NDF 6th Annual Symposia on GNE Myopathy in:
Saturday, May 4, 2019
Philadelphia Airport Marriott
9AM - 5PM

Agenda in progress.

Confirmed speakers include:
Dr. Marjan Huizing, NIH; Dr. Paul Martin, Principal Investigator, Center for Gene Therapy, Nationwide Childrens' Hospital; Dr. Kelly Hardin, Asst. Professor Department of Biology School of Behavioral and Natural Sciences, Mount St. Joseph University; Drs. Monkol and Angela Lek, NDF Scientific Directors and Yale School of Medicine; Dr. Tahseen Mozaffar, Professor of Neurology, Orthopedic Surgery and Pathology and Director of Neuromuscular Program at UC Irvine
Tel Aviv
Wednesday, May 29, 2019
Crowne Plaza Tel Aviv
9AM - 6PM

Agenda in progress.

Confirmed speakers include:
Dr. Stella Rosenbaum, Hadassah Medical Center; Dr. Zohar Argov; Drs. Monkol and Angela Lek, NDF Scientific Directors and Yale School of Medicine; Dr. Marjan Huizing , NIH; Dr. Tahseen Mozaffar, Professor of Neurology, Orthopedic Surgery and Pathology and Director of Neuromuscular Program at UC Irvine, and Ella Cohen and Irit Tubul Efrati, Israel's National Insurance Institute (Bituah Leumi)

**At both of these events minimally invasive blood and skin tissue samples will be requested on a voluntary basis from patients and, if possible, from their unaffected immediate blood relatives (parents, siblings or adult children) who may be interested in supporting NDF’s scientific studies, Biobank, Whole Genomic Sequencing Initiative and efforts to better understand mutations and the role of any modifiers within families.

Stay tuned for details about upcoming events in Canada and Italy.
International Patient Outreach
Top Stories
NDF’s 2019 Grant Recipients will Focus Primarily on Gene Therapy for Rare Muscle Disease

Beverly Hills, CA – March 12, 2019 : Neuromuscular Disease Foundation (NDF) is pleased to announce its GNEM-related research projects selected for funding in 2019. Recipients include Hadassah Medical Center, Yale University, and the NIH, among others. Since raising the first $1 million challenge  (of a $2.5 million match grant ) last December, NDF has invited numerous proposals for GNEM clinical research projects. NDF’s  Scientific Advisory Review Committee  and  Board of Directors  h ave carefully vetted the recipients to ensure that the majority of studies directly supports the gene therapy process. Some remaining proposals are still under review and the organization plans to work with applicants to modify proposals to enhance their relevance to NDF’s scientific objectives.
2 019 Fundraising Goals
In 2018, NDF earned an unprecedented $2.5 MILLION matching grant. With the help of our generous donors, we have met the first challenge of raising $1M in 2018 and are working hard to reach our 2019 goal of raising the remaining $1.5 Million.

NDF MUST RAISE AN ADDITIONAL $800K in order to meet the terms of our generous and transformative grant.

Does Your Company Match Donations?
NDF Welcomes its New 2019 Board of Directors
NDF'S 2019 Board of Directors held their yearly retreat in February with a full day agenda that included budget approval, strategic planning, and approval of the recommendations of NDF's Scientific Advisory Committee to fund critical research proposals to further our efforts in Gene Therapy and Clinical Trials for ManNAc in 2019.
NDF Scientific Report Published
5th Annual Rare Neurological Disease Report

The 5th Annual Neurological Disease Special Report is a compendium of articles and information developed by Neurology Reviews in conjunction with The National Organization for Rare Disorders (NORD) . This prestigious publication is distributed to a print audience of 23,000 neurologists and has a tremendous digital reach. Click here to read NDF's contribution to the report written by our CEO, Lale' Welsh and our Associate Scientific Director, Dr. Angela Lek.
NDF Launches Monthly Patient HUDDLE
In January 2019, NDF introduced Monthly Patient HUDDLEs to provide GNE Myopathy patients a forum in which to speak with other patients about issues that affect them. This virtual support group is held the first Saturday of each month* at 9:00 am PT and is led by patients for patients. Our Certified Patient Advocates (CPAs) host them, however the format is conversational, and mostly without agenda, so as to offer all patients an opportunity to voice their opinions or concerns and interact with each other.

The HUDDLEs have been well received and we are pleased to be able to provide this resource as part of our Advocacy and Education programs.

L earn more about our HUDDLEs here .

* May 2019 HUDDLE will be held on a Sunday at the request of some of our participants.
Webinars Led by Doctors & Experts
In keeping with our mission to improve the lives of people living with GNE Myopathy, we recently presented an informative webinar entitled "Chronic Loss: Coping with Disappointment & Grief" with Dr. Gretchen Kubacky. This is part of a series of webinars being planned for the year.

Living with any chronic illness is difficult, but GNE Myopathy is especially hard. There are so many losses – loss of control, loss of health, loss of autonomy, and loss of hope – among others. Along with the loss comes deep disappointment and grief as you let go of your old self, old body, and ways of being, and envision even more losses in the future.

Additionally, life is complicated by how much dependence you may have on the people who provide you with care. This may feel hopeless, frustrating, or overwhelming at times. And still, there are ways to improve your coping skills so that these ongoing losses feel more manageable.

This webinar was recorded and is available in its entirety for download here.
Support. Volunteer. Advise.
We can't do this alone. Are you be interested in being part of the solution to GNEM by giving some time and energy to help further our efforts?

To get involved, email our CEO, here

Don’t have time to volunteer, but still want to help?
Click below to donate now.
NDF's mission is to enhance the quality of the lives of people living with GNE Myopathy through advocacy, education, outreach and funding critical research focused on treatments and a cure.
If you like what we do for your community, please consider getting involved in a way that's meaningful for you here.

We are social!
Click below to follow us.
Los Angeles
269 S. Beverly Drive, Suite 1206
Beverly Hills, CA 90212
(310) 721-1605
New York
10 Bond Street, Suite 330
Great Neck, NY 11021
(310) 721-1605