The Neuromuscular Disease Foundation (also known as NDF) has garnered global attention by making notable advancements in their ambitious plan that was announced in late 2021, to develop the first gene replacement therapeutic to impact GNE Myopathy (GNEM).

The organization is rapidly working on a pre-IND (Investigational New Drug) package, a requisite step toward gaining authorization from the Food and Drug Administration (FDA) to conduct further studies, prior to their reaching the human dosing phase of the treatment. NDF’s team of researchers expects to submit the package to the FDA in 2023, with the intent to acquire the approvals needed for a subsequent IND submission, a step to the first clinical trial of the gene therapy on progressive disease GNEM.

The gene therapy being developed is the first-ever treatment designed to target the root genetic cause of the disease, with the potential to prevent muscle atrophy (or muscle wasting), that is a hallmark of the progressive condition.

What is GNE Myopathy?

GNE Myopathy (GNEM) is a rare degenerative muscle disease that affects races and nationalities around the world. It’s a genetic disorder primarily affecting the body’s skeletal muscles. The condition is characterized by decreased grip strength, difficulty lifting one’s feet, and frequent loss of balance in its early stages, and symptoms worsen over time.

As the disease advances, it causes increased weakness and atrophy of the muscles which most impact patient mobility. Ultimately, it can lead to the complete loss of muscle function, confinement to a wheelchair and dependence on caregivers.

NDF’s Research Program (IGTDP) Moves Closer to Cure GNEM:

The International Gene Therapy Development Program (IGTDP), a program conceived and developed by NDF, was created with the goal of developing an effective treatment to halt the progression of GNEM. The program is the culmination of more than a decade of NDF’s generous funding of global scientific research of GNEM and treatments via grants. The Beverly Hills-based organization is the world’s largest funder of clinical research in support of GNEM patients, programs and treatments.

The NDF enlisted a world-renowned team of researchers and scientists of multiple expertise, who will collaborate in this initiative, which will leverage the cumulative data from their research. NDF’s precedent setting collaborative approach in this global endeavor may accelerate the long-awaited and competitively sought treatment for GNEM, a goal that many organizations are striving to accomplish. It appears that the NDF is leading the global competition to deliver this treatment to GNEM patients worldwide.

The objective of the NDF led team’s research is to treat patients who have a verified diagnosis of GNEM, by slowing the progression of the disease. If successful, NDF’s effort will be a historic milestone in the gene therapy field, and could serve as a blueprint for other institutions to take similar approaches in developing gene therapy treatments for patients of other diseases.

Key Highlights and The Team Behind IGTDP Program:

The impressive team of leading scientific experts that NDF assembled for this initiative includes Angela Lek (VP of Research at the Muscular Dystrophy Association), Richard Horgan (founder of Cure Rare Disease) and other prominent scientists in the field, such as Dr. Stella Mitrani Rosenbaum, Dr. Marjan Huizing, Dr. Kelly Crowe, Dr. Julie Crudele, Dr. Monkol Lek and Dr. Noah Weisleder.

According to Dr. Angela Lek, the nature of their drug development program is quite uncommon. “The unique aspect of this program is that it is not happening in a single lab, but is a coming together of several minds with different expertise, all under the umbrella of NDF,” she commented.

“The pre-clinical data will be generated by a contract research organization, Charles RiverLaboratories, and analyzed by our NDF-sponsored team of scientists who have experience in interpreting GNEM data,” she added.

NDF’s Timeline Towards an Impactful GNEM Treatment:

NDF’s board of directors worked with the organization’s team of leading scientists during the winter of 2021 to determine how to best achieve their goal of developing the pre-IND package and secure future IND approval.

In late 2021, the team began producing the viral vector containing the GNE gene, looking forward to finalizing the proof-of-concept preclinical studies. They are now in the pre clinical development testing phase, testing the gene therapy in animal models.

Once the goals defined in the preclinical phase have been achieved, the team will progress to its  large-scale production phase, along with subsequent toxicity studies, required to verify that the therapy is safe for human use. Ultimately, the data from these studies will assist in securing approval to further test the therapy in GNEM patients.

The swift progress and solid execution of NDF’s plan have the leaders of the organization and GNEM patients expressing confidence. “As the newly appointed Executive Director of NDF, I am excited to be associated with this life-changing project, which will benefit patients throughout the world,” said Geoffrey Gee, Executive Director of the NDF.

For more detailed information regarding the NDF’s research program – IGTDP, visit www.curegnem.org.