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MNGIE clinical trials

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NCT ID: NCT05658822 Recruiting - MNGIE Clinical Trials

Digestive Dysmotility in Mitochondrial Neurogastrointestinal Encephalomyopathy

Start date: February 1, 2018
Phase:
Study type: Observational

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.

NCT ID: NCT05554835 Recruiting - MDS Clinical Trials

Global Registry and Natural History Study for Mitochondrial Disorders

Start date: February 1, 2009
Phase:
Study type: Observational [Patient Registry]

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.