Neuromuscular Disease Foundation
GNE Myopathy Gene Therapy Program
Summary
Gene therapy has advanced rapidly in recent years, with several treatments now approved by the U.S. Food and Drug Administration (FDA) to treat neuromuscular conditions, including Duchenne Muscular Dystrophy and Spinal Muscular Atrophy. This technology uses adeno-associated virus (AAV) vectors to deliver healthy copies of the disease-causing gene directly to muscle tissue, addressing the root cause of genetic disease.
We have recently reached a turning point in our efforts to develop a transformative gene therapy. Our investigational gene therapy, GNE-001, is designed to replace the entire GNE gene, which could benefit patients regardless of the specific mutation they carry. With guidance from a world-class team of researchers, NDF is advancing GNE-001 towards human clinical trials. Learn about our accomplishments to date, current status of the gene therapy program and next steps.
Overview of NDF’s Gene Therapy Efforts
Our gene therapy program is focused on advancing an AAV-mediated gene therapy called GNE-001 through the FDA approval process to provide patients with a safe and effective treatment. After receiving encouraging initial feedback from the FDA, we are raising funds to complete the preclinical work that will enable us to begin human clinical trials. We plan to conduct a Phase 1/2 clinical trial of GNE-001 to establish safety and a preliminary indication of efficacy. Following successful Phase 1/2 data, our strategy is to partner with a biopharmaceutical company to fund and execute the pivotal Phase 3 trial and commercialization.
How Gene Therapy for GNE Myopathy Works
Progress to Date
Backed by years of preclinical testing and a comprehensive body of experimental data, NDF submitted a pre-Investigational New Drug (pre-IND) package to the FDA detailing our results and requesting guidance on next steps. This was only possible thanks to the remarkable accomplishments of our science team, leading to four major milestones that paved the way forward:
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Established a mouse model with a mutation to the GNE gene for testing our gene therapy.
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Developed a test to measure GNE-001 gene therapy activity.
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Identified and licensed a next-generation AAV vector that we believe will be safer and more effective than earlier vectors.
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Demonstrated that GNE-001 can restore function of the GNE gene in our mouse model.
In December 2024, the FDA provided a response to our pre-IND submission that will serve as a road map for our upcoming application to begin human clinical trials.
Next Steps
Backed by years of preclinical testing and a comprehensive body of experimental data, NDF submitted a pre-Investigational New Drug (pre-IND) package to the FDA detailing our results and requesting guidance on next steps. This was only possible thanks to the remarkable accomplishments of our science team, leading to four major milestones that paved the way forward:
FUNDING THE NEXT STAGE
$250K raised toward approximately $4.5M
Preliminary estimates from the proposal. Actual costs may vary.
The total estimated cost to advance our gene therapy through a Phase I/II clinical trial is approximately $4.5 million over 3 years. Please note that this is a preliminary, and ultimate costs are subject to factors outside of our control, which means that actual costs may vary significantly. We have recently raised $250K towards this goal. While we are aggressively pursuing scientific grants to leverage our capital, we cannot allow the slow, uncertain pace of grant approvals to delay treatment. We must push ahead for our patients now. The steps that remain in this effort include:
Clinical-Grade (GMP) Manufacturing $2,000,000
The costliest step in our program is producing a version of GNE-001 for human use. This funds the rigorous Good Manufacturing Practice (GMP) production of our AAV vector (2x250L scale), which is the FDA-mandated standard for human trials.
FDA-Required Safety Studies $600,000
Before the FDA allows human dosing, we must execute a mandatory 4-month toxicology and safety study in animals. These studies aim to demonstrate that the therapy is safe for patient administration.
Application for Human Clinical Trials $75,000
This covers the regulatory push to clear the therapy for human clinical trials, specifically the preparation and filing of an Investigational New Drug (IND) submission.
Phase 1/2 Human Clinical Trial $1,600,000
The clinical proof of concept. This fully funds the initial clinical phase, covering Institutional Review Board approval ($50,000), enrollment of patients at a clinical trial site ($50,000) and the execution of the Phase 1/2 trial for the first 10 patients ($1,500,000).
Guided by World-Class Scientific Advisors
Our gene therapy program is led by gene therapy and GNE myopathy experts including:
- Angela Lek, PhD: Chief Research Officer at the Muscular Dystrophy Association
- Monkol Lek, PhD: Associate Professor of Genetics, Yale University School of Medicine
- Stella Mitrani-Rosenbaum, PhD: Professor at Hadassah University Medical Center
- Dr. Tahseen Mozaffar, MD, Director of the University of California, Irvine Health ALS & Neuromuscular Center
- Noah L. Weisleder, PhD: Professor and Department Chair of Molecular and Cellular Biochemistry at the University of Kentucky College of Medicine
- Rich Horgan, MBA: Founder & CEO, Cure Rare Disease, a non-profit biotechnology company developing a pipeline of gene therapies for rare neuromuscular diseases
- Marjan Huizing, PhD: Staff Scientist at National Human Genome Research Institute, National Institutes of Health
Help Fund the Gene Therapy Program
NDF’s gene therapy program combines rigorous science with cutting edge technology, offering hope for a definitive treatment, and we are closer than ever. Your support is essential for advancing our gene therapy program into human clinical trials.