UNITED MITOCHONDRIAL DISEASE FOUNDATION ANNOUNCES NO-COST MITOCHONDRIAL DISEASE GENETIC TESTING PROGRAM

PITTSBURGH, April 13, 2023 /PRNewswire/ -- The United Mitochondrial Disease Foundation (UMDF), a non-profit organization working to promote research and education for the diagnosis, treatment and cure of mitochondrial diseases, today announced the launch of a no-cost genetic testing program for eligible patients with suspected primary mitochondrial diseases. The program is aimed at assisting healthcare providers in obtaining a molecular genetic diagnosis for patients who show signs or symptoms of having a primary mitochondrial disease. The no-cost genetic testing program is made possible by a grant from our collaborator and Founding Sponsor Reneo Pharmaceuticals, Inc.

"A genetic diagnosis is critical for mitochondrial disease patients. It helps patients to access specialized medical health care, boosts your chances to participate in clinical trials, and provides patients the comfort in knowing the precise nature of your disease," said UMDF President & CEO Brian Harman. "We are fortunate to have Reneo Pharmaceuticals partner with us as we work to eliminate one of the biggest barriers – cost – and to give access to genetic testing with patient confidentiality and privacy for the mitochondrial disease patient community."

Diagnosing primary mitochondrial diseases can be challenging for clinicians, as the symptoms may be non-specific and may mimic those of several other conditions. This often causes patients to undergo a prolonged diagnostic journey, which can ultimately delay reaching a definitive diagnosis and implementing optimal management. Genetic testing is an important tool that can be used to confirm a clinical suspicion, but it is not being utilized to its fullest potential. It is estimated that fewer than half of patients with primary mitochondrial disease have a confirmed genetic diagnosis.

The genetic test utilizes next generation sequencing (NGS) technology to sequence an individual's full mitochondrial genome and a panel of 320 nuclear genes associated with mitochondrial disorders. The test must be ordered by a clinician; healthcare providers can find more information and access the program at umdf.org/NoCostMitoTest.

Mitochondrial Disease Quick Facts:

• There are currently no FDA approved therapies for primary mitochondrial myopathies. These conditions constitute a high unmet medical need and public health issue.
• An estimated 1 in 5,000 individuals has a primary mitochondrial disease.
• Because mitochondria are responsible for producing energy from the food we eat, the parts of your body that need the most energy – heart, brain, muscles – are most affected by mitochondrial disease.
• In many cases, the disease is devastatingly progressive – meaning affected children may not survive beyond their teenage years.
• Primary mitochondrial disease manifests primary as myopathy (i.e., affecting skeletal muscles), and is often not diagnosed until late teen or early adulthood with debilitating symptoms such as muscle weakness and pain, exercise intolerance, and fatigue.  

ABOUT THE UNITED MITOCHONDRIAL DISEASE FOUNDATION 
Founded in 1996, the United Mitochondrial Disease Foundation (UMDF) works to promote research and education for the diagnosis, treatment and cure of mitochondrial diseases and to provide support for affected individuals and families. Since its inception, the UMDF has funded more than $15 million in research, making it the leading non-governmental contributor of grants focused solely on mitochondrial disease. Every year, UMDF provides support and education to thousands of patients and medical professionals across the globe. Learn more at umdf.org.

ABOUT RENEO PHARMACEUTICALS, INC.
Reneo is a clinical-stage pharmaceutical company focused on the development and commercialization of therapies for patients with rare genetic mitochondrial diseases, which are often associated with the inability of mitochondria to produce adenosine triphosphate (ATP). For additional information, please see reneopharma.com.

CONTACT
Andy Dearth
United Mitochondrial Disease Foundation
[email protected] 
412-979-9833

SOURCE United Mitochondrial Disease Foundation (UMDF)