View clinical trials related to MNGIE.
Filter by:Mitochondrial neurogastrointestinal encephalopathy (MNGIE) is an ultra-rare mitochondrial disease caused by mutations of the gen that codifies the enzyme thymidine phosphorylase The genetic defect results in systemic accumulation of the nucleosides thymidine and deoxyuridine. Clinically MNGIE is characterized by a combination of gastrointestinal and neurological manifestations, including severe gastrointestinal dysmotility, cachexia, ptosis, external ophthalmoplegia and sensorimotor neuropathy. Gastrointestinal symptoms are the most frequent first manifestation of the disease, and include early satiety, nausea, dysphagia, postprandial emesis, abdominal pain, abdominal distention, and diarrhea. The disease is relentlessly progressive and the cause of death is primarily related to digestive dysmotility. However, the specific motor dysfunctions that produce the symptoms, i.e., the underlying mechanisms, remain uncertain.
The main goal of the project is provision of a global registry for mitochondrial disorders to harmonize previous national registries, enable world-wide participation and facilitate natural history studies, definition of outcome measures and conduction of clinical trials.
The investigators are studying patients with undefined mitochondrial diseases to identify genetic mutations in nuclear or mitochondrial Deoxyribonucleic Acid (DNA). Most patients with suspected or known mitochondrial diseases have no genetic confirmation. The investigators expect that evaluating tissue samples from patients with mitochondrial disorders will lead us to discover mutations in new or known genes causing mitochondrial dysfunction.