Summer 2021
"NDF has been aggressive in its quest in pursuit of treatments and gene therapy for GNEM. Most of the 7000 orphan diseases do not have any approved treatments, and NDF is way ahead of the game."
~Dr. Tahseen Mozaffar

On behalf of the NDF Board of Directors, and patients waiting for a cure, we are beyond grateful to Dr. Angela Lek and Richard Horgan for deft leadership, willingness to share their up-to-the-minute knowledge of the IND process with our collaborators, but most importantly, for their infectious sense of urgency that prevents data from languishing in a lab somewhere!
“The Neuromuscular Disease Foundation celebrates the work of our former Chief Medical Officer, Dr. Nuria Carrillo. At NDF and in her prior ten years at the National Institutes for Health, Dr. Carrillo was a tremendous asset for patients and their families, advancing the development of therapies for GNE myopathy. Dr. Carrillo leaves NDF in favor of other pursuits, and we wish her the best in her future endeavors.”
Dr. Nuria Carrillo
We promised you--our donors and patients-- actual progress and we are delivering those results here, and in real time, at our Speaker Series recorded LIVE on Fridays at 10AM PST, and available for download here.

OUR 24 Month Plan

Because At NDF we wish to leave no stone unturned on our path to Gene Therapy, with the guidance of our team, we've reimagined an ambitious, but realistic 24 month plan to human dosing. Dr. Angela Lek at Yale University, and Richard Horgan, CEO of CureRAreDisease are leading NDF's collaboration with Charles River Labs to expedite a parallel path to an IND and subsequent clinical trial.
We know that for those not familiar with the drug development process, the wait time can seem like ages. But for those who live this complex process professionally, NDF's progress of late has been swift, smart and safe. For a comprehensive breakdown of how Rich Horgan and Angela Lek have defied the odds and done this for a DMD patient, please watch Rich's video presentation to understand the 24 Month Plan to Human Dosing.

To review the details about how each of our recent studies contributes to approval from the FDA, please take a moment to familiarize yourselves with our scientific achievements to date and listen to Dr. Angela Lek explain the relevance of our 2020 scientific outcomes and 2021 goals with these final steps. To Learn more about Charles River's expertise in expediting clinical trials, watch their presentation here.

A fall scientific event is being planned to follow NDF's Annual Gala in Los Angeles. Covid permitting, we aim to convene and harness the mindshare of the world's largest coterie of GNEM experts to solve out collective problem. This event will include all grant awardees and other members of our esteemed scientific advisory community.

This Friday, July 30th 2021
Dr. Stella Mitrani- Rosenbaum from Hadassah Medical Center will be presenting at 10am PST, "Updates on Model Systems for GNE Myopathy".

NDF's Virtual Speaker Series is
sponsored this year by The Rotary Club of Beverly Hills

To change the subtitles to another language, follow these steps: In the bottom right corner of the video, click the CC icon to see subtitles appear, then click the gear icon, Subtitles/CC, Auto Translate, and then choose your language.

Check our Events Page or follow us on social media to stay up-to-date.

In our latest episode of NDF TALKS NDF Emotional Wellness Director, Carol Gelbard, LCSW talks with GNE Myopathy patient Kam Redlawsk on "Breaking The Taboo Of Disability"

ALL NDF Podcasts are now available on: Apple Podcasts, Spotify, Google Podcast, Podbean, Listen Notes, Anchor, Radio Public and Breaker.


Consider making a tax-deductible donation in support of GNE Myopathy programs and promote your business at the same time!


This year, you'll be able to sponsor our event in a variety of ways that can serve the dual purpose of supporting our quest towards treatments and gene therapy, while also promoting your business to the Beverly Hills and greater Los Angeles community.

*Covid restrictions permitting and subject to state guidelines

Sunday August 8th, 9 am PST

Patients only: We have a few open spots for patients at NDF's GNEM-Specific Clinic at UC Irvine, August 13th, 2021

Last year, NDF's Board approved a new initiative allowing GNEM patients better access to healthcare by sponsoring a muti-disciplinary GNEM-specific clinic.

Every other month, patients are offered FREE visits with several specialists, who are trained to look for issues in GNEM that may impact other ailments. These clinic are an official NDF program and are intended for GNE Myopathy Patients only. Click here for more information

To book an appointment at our sponsored clinics, AT NO COST TO YOU please contact: 714-456-2332 option 4
Study of ManNAc Update:
With their protocol finalized and approved, NIH and the other locations in the United States for the Multi-Center Study of ManNAC for GNE Myopathy (MAGiNE) are busy putting the “finishing touches” on all aspects needed in order to begin enrolling patients. The first of the sites still plan to begin the assessment and enrollment process in August, once all of the final tests on the equipment needed are completed. Click here to learn more about eligibility criteria, outcome measures and for contact information for the site nearest where you live. Patients residing outside of the United States and patients in the U.S. who do not have a site within six hours of their home can contact the team at NIH at [email protected] for information about potential participation.
Congratulations to GNEM patient Kam for receiving NORD's 2021 Rare Impact Award. This prestigious award is given to advocates who make an impact on the lives of those in the rare community.

Kam is also the guest on our latest Podcast, NDF Talks.

You can follow her on Instagram
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An effortless way you can can help NDF is through Amazon Smile. When you register with this link, a percentage of every purchase goes to help support NDF programs to serve patient, carriers, and their families.