The Rare Diseases Clinical Research Network is an NIH-funded research network of 20 active consortia or research groups working to advance treatment for diseases that are rare. Use the search tools on this page to find the diseases we currently study. You can reach out to the indicated consortia or research groups for more information on those diseases and studies underway.
This network focuses on clinical research and does not generally support clinical care outside of research activities. To learn about other rare diseases, please visit the Genetic and Rare Diseases Information Center (GARD), which is an NIH program that helps the public find reliable information about rare and genetic diseases. Their staff are specialists. Contact them at 1-888-205-2311 or email GARDinfo@nih.gov.
All Diseases > Mitochondrial Neurogastrointestinal Encephalomyopathy
Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE)
Alternative Names: Mitochondrial Myopathy with Sensorimotor Polyneuropathy (MEPOP), Ophthalmoplegia, and Pseudo-Obstruction; Myoneurogastrointestinal Encephalopathy Syndrome (OGIMD); Oculogastrointestinal Muscular Dystrophy; Polyneuropathy, Ophthalmoplegia, Leukoencephalopathy, and Intestinal Pseudo-Obstruction (POLIP); Thymidine Phosphorylase Deficiency
Disease Category: Mitochondrial Disorders
A rare, inherited disorder characterized by progressive digestive and nervous system impairment. Digestive symptoms include gastrointestinal dysmotility (impaired movement of food through the digestive tract), early satiety (feeling full), dysphagia (difficulty swallowing), nausea, vomiting, diarrhea, intestinal blockages, abdominal pain, extreme weight loss, and cachexia (loss of muscle mass). Neurological manifestations include leukoencephalopathy, which is the degeneration of white matter comprised of myelin (a fatty coating) surrounding nerve fibers in the brain, ptosis (eyelid drooping), eye muscle weakness, peripheral neuropathy (sensory changes and muscle weakness in the extremities), and hearing loss.
Research groups studying this disease
Improves quality of life for people affected by mitochondrial disease through education, outreach, advocacy, and clinical research initiatives.
Promotes research and education for the diagnosis, treatment, and cure of mitochondrial disorders while providing support to those affected.