MitoCanada Foundation Launches Project to Improve Early Detection and Treatment of Mitochondrial Disease

Patricia Silva, PhD avatar

by Patricia Silva, PhD |

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Mitochondrial disease in children

The MitoCanada Foundation, the first registered Canadian charity focused on awareness, support and the search for a mitochondrial disease cure, recently announced a national research project with the goal of improving early detection and treatment of medical conditions linked to mitochondria, vital small organelles within cells where the energy for the body is produced.

Mitochondrial diseases are rare disorders caused by DNA mutations in mitochondrially-expressed genes. The severity of the disease and its presentation can vary greatly between individuals, and it can range from only exercise intolerance without disability to loss of muscle coordination, muscle weakness, poor growth, visual and hearing problems, learning disabilities, liver disease, heart disease, kidney disease, gastrointestinal and respiratory disorders, diabetes, seizures, neurological problems and dementia. Currently, there is no approved or effective therapy for any mitochondrial disease.

Mitochondrial diseases are often inherited. It is estimated that 1 in every 200 people has a genetic mutation that can lead to the disease or that can be passed to his/her children. This disease is among the most common forms of inherited neurological conditions in adults, affecting 1 in every 4,300 individuals.

Together with the Canadian Inherited Metabolic Diseases Research Network (CIMDRN), the project is planned to include researchers and physicians from 14 academic centers and hospitals, and to conduct the first study of clinical practice for mitochondrial disease.

The first priority of this initiative is to gain more insight into how patients with mitochondrial disease receive care in Canada, and how the healthcare system is organized. The views and opinions of clinicians concerning key research topics and knowledge gaps will also be collected and explored.

The main goal of the project is to promote meaningful, high-quality research that will eventually improve the early detection of mitochondrial disease, its clinical outcome and the healthcare services provided to Canadians with the disease.

“For too long, many Canadians with mitochondrial disease have gone years undiagnosed or misdiagnosed, sometimes leading to tragic consequences.” noted the MitoCanada Foundation chair, Blaine Penny in a news release. “It’s time to get focused at the patient level and really delve into what we can do to make it better for those suffering across Canada as we speak.”

The overall burden of mitochondrial disease in Canada is currently unknown, although it is known to be significant in terms of healthcare costs not only for the patient but also the public health system.