The Neuromuscular Disease Foundation (NDF) has provided close to $10M in funding for critical research, symposia and other programs with the goal of finding a treatment to end GNE myopathy (GNEM). This effort has continued over the last year as we conduct foundational studies that are paving the way to a treatment that we believe will halt the progression of GNEM in patients, by working with leaders in drug development and genetic therapy research.
Several NDF funded laboratories continued their vital research over the last year with our financial and scientific support. Dr. Stella Mitrani-Rosenbaum of Hadassah Hebrew University Medical Center continues to develop a new mouse model of GNEM that is essential for testing GNEM therapies. Dr. Paul Martin from the Abigail Wexner Research Institute at Nationwide Children’s Hospital is also developing models of GNEM that will help support therapeutics development. Drs. Rüdiger Horstkorte and Kaya Bork from Martin-Luther-Universität Halle–Wittenber can now measure the activity of the GNE protein so that we can determine how well various therapeutics improve GNEM. Dr. Kelly Crowe also continues her work, now at Xavier University, on lectin staining as a biomarker to measure gene therapy efficacy. Indeed, based on her work the NDF sponsored her for the New Investigator Draft Award from Uplifting Athletes this year. Our effort also benefits from the continued efforts of Dr. Monkol Lek at Yale School of Medicine as he continues to expand the GNEM patient cell bank, which has become an important resource for supporting researchers interested in GNEM research. Dr. Lek and his laboratory group also lead efforts to develop a gene therapy for GNEM in collaboration with Mr. Rich Horgan of Cure Rare Disease.
As you may recall, NDF has a flagship plan, The International Gene Therapy Development Program (IGTDP), to produce a gene therapy to treat GNEM. This collaboration of world leading gene therapy and GNEM experts to develop and begin FDA-approved clinical trials for GNEM using gene therapy. NDF expects to submit a pre-IND package to the FDA after demonstrating the ability to fix a mouse model which harbors GNEM. Once the IND is approved by the FDA, enabling the start of human clinical trials, this will be one of the world’s first gene therapies for GNEM. To meet the goal of developing this treatment, NDF has partnered with pharmaceutical research and drug development leader Charles River Labs and has also onboarded world renowned experts on GNEM and FDA approval process. This has led to remarkable progress over the last year, leading to 4 major milestones accomplished that provide concrete steps forward in developing a GNEM gene therapy: