Palliative only. There is currently no cure or FDA-approved treatments for GNE Myopathy.
This is not uncommon for rare or orphan diseases, hence the term. Currently, there are just over 7000 rare diseases and only 5% have an FDA-approved treatment, and even fewer have a professional organization dedicated to their cause.
The underlying causes of rare diseases can be difficult to identify, and the symptoms of the diseases are often quite different for each patient. This is also true for GNE Myopathy where the rate of progression of the disease can vary between patients, making proper diagnosis more difficult. Some patients can continue to walk with assistive devices for many years, while others may need a wheelchair shortly after diagnosis.
Two Potential Treatments for GNE Myopathy underway:
When the GNE epimerase kinase does not function correctly in the human body thereby reducing the available ManNAc, it is reasonable to assume that treatment with ManNAc could assist with improving health benefits. The therapeutic potential for ManNAc is currently being assessed in several diseases, including GNE Myopathy, in which therapy could benefit from its ability to enhance the biosynthesis of sialic acid.
NIH owns related intellectual property for the use of ManNAc to treat GNE myopathy patients and has designed a Phase 2/3 clinical trial to test its safety and efficacy. NDF has supported the NIH through gift funds in support of these efforts, and continues to include investigators in its scientific coterie. For more information about this trial please visit the clinical trials site by clicking here.
Gene therapy replaces a faulty gene or adds a new gene in an attempt to cure disease or improve your 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 2017.
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 demonstrate both safety and efficacy to the FDA before it can be tested on humans. While some recent gene therapy efforts have been successful in other diseases, usually in babies or small areas of the body, such as the eye and other organs, others have failed when dosing larger areas in adults.
This makes safety paramount for the FDA, NDF and all GNEM researchers.
With its team of esteemed scientific and biopharmaceutical partners, NDF has succeeded in identifying all known scientific gaps needed in order to get approval for an IND (Investigative New Drug) from the FDA and is currently funding these studies to expedite approval for clinical trials.
To learn about NDF’s journey towards completion of gene therapy, click here, and to learn about how gene therapy works, see this.
The Neuromuscular Disease Foundation is the world’s only organization committed to advocacy and leading nonprofit for funding of collaborative research for the advancement of therapies for GNEM. Currently, NDF’s patient programs are designed to support Palliative care, an interdisciplinary medical caregiving approach aimed at optimizing quality of life and mitigating suffering among people with GNEM.
If you appreciate the urgency of our work, our transparent dedication to scientific data-sharing and our commitment to the prevention of GNE Myopathy in future generations, please consider making a recurring or one-time donation here.