Human gene therapy seeks to modify or manipulate the expression of a gene or to alter the biological properties of living cells for therapeutic use.1

Gene Therapy- Neuromuscular DIsease Foundation- GNE Myopathy

Gene therapy is a technique that modifies a person’s genes to treat or cure disease. Gene therapies can work through several mechanisms:

  • Replacing a disease-causing gene with a healthy copy of the gene
  • Inactivating a disease-causing gene that is not functioning properly
  • Introducing a new or modified gene into the body to help treat a disease

Gene therapy products are being studied to treat diseases including cancer, genetic diseases, and infectious diseases.2 It is also used for curing rare diseases such as GNE Myopathy, also known as HIBM.

How does GNE Myopathy affect patients?

GNE Myopathy typically affects young adults. One of the first signs of the disease includes an inability to lift the front of the foot (foot drop). This may cause toes to drag while walking. As the disease progresses, it usually leads to physical disability. GNE Myopathy does not affect the muscles of the face, or swallowing ability, nor does it  typically affect the heart or breathing muscles.

The rate of progression of GNE Myopathy varies between patients, making proper diagnosis difficult. Some patients can continue to walk with assistive devices for many years, while others may need a wheelchair shortly after diagnosis.

What is the potential gene therapy treatment for GNEM?

There are currently no FDA-approved treatments for GNE Myopathy, nor is there a cure. The Neuromuscular Disease Foundation (NDF) has provided close to $10M in funding for critical research, symposia, patient centric and other programs with the goal of finding a treatment to end GNEM. In October 2021, NDF launched its International Gene Therapy Development Program: a collaboration of the world’s leading gene therapy experts to obtain an IND (investigational new drug) approval to treat GNEM. NDF is currently working on  submitting a pre-IND package to the FDA for approval. On approval, this is expected to be the world’s first gene therapy for GNEM.

Besides Gene Therapy, are there other potential treatments for GNEM?

Currently, two potential treatments for GNE Myopathy have been found: ManNAc and Gene Therapy.

The therapeutic potential for ManNAc is being assessed in several diseases, including GNE Myopathy, in which therapy could benefit from its ability to enhance the biosynthesis of sialic acid.

As for gene therapy, it replaces a faulty gene or adds a new gene in an attempt to cure disease or improve the body’s ability to fight disease. Gene therapy holds promise for treating a wide range of genetic diseases.

NDF has been funding preclinical research for gene therapy since 2007.

Gene therapy is a multi-year process. As a relatively new area at the intersection of biology and technology, this process takes time and money as there are a number of steps that must be demonstrated to the FDA for both safety and efficacy before it can be tested on humans. While some recent gene therapy efforts have been successful in other diseases, usually in babies or in small areas of the body, such as the eye and other organs, others have failed when dosing larger areas in adults.

To learn about NDF’s journey towards completion of gene therapy, click here, and to learn about how gene therapy works, watch this video.