What is the North American Mitochondrial Disease Consortium (NAMDC)

Mitochondrial diseases result from failures of the mitochondria, specialized compartments present in every cell of the body except red blood cells. Mitochondria are responsible for creating more than 90% of the energy needed by the body to sustain life and support growth. When they fail, less and less energy is generated within the cell. Cell injury and even cell death follow. If this process is repeated throughout the body, whole systems begin to fail, and the life of the person in whom this is happening is severely compromised. Mitochondrial diseases primarily affect children, but adult onset is becoming more and more common.

Mitochondrial diseases are a challenge because they are probably the most diverse human disorders at every level: clinical, biochemical, and genetic. Some are confined to the nervous system but most are multi-systemic, often affecting the brain, heart, liver, skeletal muscles, kidney and the endocrine and respiratory systems. Although severity varies, by and large these are progressive and often crippling disorders. They can cause paralysis, seizures, mental retardation, dementia, hearing loss, blindness, weakness and premature death.

Because of the range of symptoms and the frequent involvement of multiple body systems, mitochondrial diseases can be a great challenge to diagnose. Even when accurately diagnosed, they pose an even more formidable challenge to treat, as there are very few therapies and most are only partially effective.

The North American Mitochondrial Disease Consortium (NAMDC) was established to create a network of all clinicians and clinical investigators in North America (US and Canada, with the hope of including Mexico in the future) who follow sizeable numbers of patients with mitochondrial diseases and are involved or interested in mitochondrial research. The NAMDC has created a clinical registry for patients, in the hopes of standardizing diagnostic criteria, collecting important standardized information on patients, and facilitating the participation of patients in research on mitochondrial diseases.

For the study of any rare disease, the collection of specimens is a major challenge. The NAMDC is establishing a repository for specimens and DNA from patients with mitochondrial diseases, in order to make materials easily available to consortium researchers.

Finally, the NAMDC will conduct clinical trials and other kinds of research. The consortium makes biostatisticians, data management experts, and specialists in clinical research available to participating physicians, so that experiments conducted through the NAMDC can make the most efficient and innovative use of the generous participation of patients.

Mission Statement

The challenge for the NAMDC is the extraordinary clinical spectrum of mitochondrial diseases, which all too often leads practitioners to either underdiagnose ("What is this complex disorder?") or over diagnose ("This disorder is so complex that is must be mitochondrial!"). Yet mitochondrial diseases cause similar metabolic defects and presumably share - albeit to different extents - the same mechanisms. Thus, the availability of a mitochondrial patient registry and of a consortium will have a powerful impact in multiple ways, as already documented by similar organizations operating in Europe.

First, the NAMDC will make these rare and still unfamiliar diseases known to practitioners and to the general public.

Second, it will facilitate correct diagnosis by making "centers of excellence" available to physicians and affected families alike.

Third, it will offer affected families the comfort and advice of a patient support group, the United Mitochondrial Disease Foundation (UMDF).

Fourth, it will foster clinical research, such as natural history, that would be otherwise impossible because it requires relatively large cohorts of patients.

Fifth, it will also foster more basic research by revealing unusual patients, leading to the discovery of new genetic defects.

Finally, the NAMDC will conduct rigorous and innovative therapeutic clinical trials.