UMDF Launches Mitochondrial Disease Community Registry

PITTSBURGH, Aug. 18, 2014 /PRNewswire-USNewswire/ -- The United Mitochondrial Disease Foundation (UMDF) has announced the creation and launch of the Mitochondrial Disease Community Registry (MDCR). The registry, to be populated by patients, caregivers and family members, is the first of its kind that gathers information about mitochondrial disease to be shared as a tool to impact the development of diagnostic tools, treatments and cures. Currently, there is no cure for this often fatal disease. We all have mitochondria. They provide the energy that powers the cells in the human body. For people with mitochondrial disease, the mitochondria cannot produce enough energy to power major organ systems. For the mitochondrial disease patient, symptoms range from cardiac problems, damage to cells of the brain, heart, liver, skeletal muscles, kidney and the endocrine and respiratory systems. When cells in the body do not have enough energy, they eventually die. As this process repeats throughout the body, organ systems begin to fail, and the life of the affected person is severely compromised. The disease primarily affects children, but adult onset is becoming more and more common. Research shows that 1 in 2000 people are born each year with mitochondrial disease. Because diagnosis is difficult, many people suffer for years before receiving a confirming diagnosis.

UMDF Science and Alliance Officer Philip Yeske, Ph.D. says the creation of the MDCR will allow for the collection of patient health data that will be used to develop treatments, identify new symptoms leading to better diagnosis, and provide information to researchers that seek to study mitochondrial disease. "Our goal is to identify and characterize every person affected by mitochondrial disease, no matter where they are located, living or deceased", Yeske said. The UMDF is committed to the long-term financial sponsorship of the MDCR and will serve as guardian of the information and coordinator of the project. In an effort to unify the community and build as quickly as possible the most robust registry, the UMDF has invited other mitochondrial disease related organizations to ask their members to participate. Yeske said MDCR participants will be anonymous to researchers during data analysis. Once registered, the participant will be in full control of their privacy settings. It will be up to the participant to determine who can view their data or make contact with them to gauge research study or clinical trial interests.

Each participant will be presented with an initial survey that captures demographic and diagnostic information as well as opinions on the MDCR and how it should be used in the future. "The MDCR is a tool meant to continually engage the mitochondrial disease community," Yeske added. "Input from the patient community is critical so that we may develop ideas for future survey topics". Researchers will use this information to learn about the nature and progression of mitochondrial disease leading to the development of treatments and cures.

Yeske hopes all mitochondrial disease patient participate in the MDCR, even if patients have registered in other databases. "If there is one thing our community can do to honor those who have already succumbed to this terrible disease, or who are currently living with mitochondrial disease, or for those who will someday be diagnosed with mitochondrial disease, it is graciously and openly sharing our information. If we don't share the chances of developing treatments and cures are greatly diminished," he said.  To participate in the MDCR, visit www.umdf.org.

ABOUT MITOCHONDRIAL DISEASE

Every 30 minutes, a child is born who will develop a mitochondrial disease by age 10, although the actual number of children born with the disease is thought to be much higher. More and more adults are being diagnosed with a mitochondrial disease. Recent research indicates that one in 200 people harbors a genetic mutation that can lead to mitochondrial disease in them or their offspring. Most patients suffer symptoms for years before they are accurately diagnosed with a mitochondrial disease. Mitochondrial diseases result from the failure of the mitochondria, which are located in the cells of our bodies. Mitochondria are responsible for creating more than 90% of the energy needed to sustain life and support growth. When mitochondria fail, less energy is produced causing cell injury or cell death. On a larger scale, organ systems begin to fail. The disease is often debilitating. In some cases, it may result in death. Adult onset is becoming more and more common. There is no cure for mitochondrial disease.

ABOUT THE UMDF

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 nearly $13 million in research, making it the leading non-governmental contributor of grants focused solely on mitochondrial disease. The UMDF, based in Pittsburgh, PA, is a national organization, represented around the world by thousands of members. For more information about mitochondrial disease or the UMDF, visit www.umdf.org

Contact: Clifford Gorski
Director of Communications
412.793.8077 [email protected]

SOURCE UMDF