North American Mitochondrial Disease Consortium

The [North American Mitochondrial Disease Consortium](https://namdc.rarediseasesnetwork.org/home "Learn about the North American Mitochondrial Disease Consortium. ") (NAMDC) is part of the [Rare Diseases Clinical Research Network](https://rarediseasesnetwork.org/ "Learn about the Rare Diseases Clinical Research Network. Opens in New Window.") (RDCRN), which is funded by the National Institutes of Health (NIH) and led by the [National Center for Advancing Translational Sciences](https://ncats.nih.gov/ "Learn about the National Center for Advancing Translational Sciences. Opens in New Window.") (NCATS) through its [Division of Rare Diseases Research Innovation](https://ncats.nih.gov/about/divisions-and-offices "Learn about the Division of Rare Diseases Research Innovation (DRDRI). Opens in New Window.") (DRDRI). NAMDC is funded under grant number U54NS078059 as a collaboration between NCATS, the [National Institute of Neurological Disorders and Stroke](https://www.ninds.nih.gov/ "Learn about the National Institute of Neurological Disorders and Stroke. Opens in New Window.") (NINDS), the [*Eunice Kennedy Shriver* National Institute of Child Health and Human Development](https://www.nichd.nih.gov/ "Learn about the Eunice Kennedy Shriver National Institute of Child Health and Human Development. Opens in New Window.") (NICHD), and the [Office of Dietary Supplements](https://ods.od.nih.gov/ "Learn about the Office of Dietary Supplements. Opens in New Window.") (ODS). This website is hosted by the network's Data Management and Coordinating Center at Cincinnati Children's Hospital Medical Center, which is funded by NCATS and NINDS under grant number TR002818. The content of this website is solely the responsibility of the NAMDC administrative coordinating center at Columbia University Irving Medical Center and does not necessarily represent the official views of the NIH. **Our Mission** 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 it 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](https://www.umdf.org/ "Learn about the United Mitochondrial Disease Foundation. Opens in New Window.") (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. 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 it 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](https://www.umdf.org/ "Learn about the United Mitochondrial Disease Foundation. Opens in New Window.") (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