MNGIE

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 MNGIE Retrospective Natural History Study is a collaborative study between the University of Cambridge and the University of Bologna. The aim of this study is to better understand the natural history and progression of Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE). New treatment strategies for MNGIE, including gene therapies, enzyme replacement therapy, and other advanced treatments, are currently being developed and may soon be tested in clinical trials. A comprehensive and up-to-date natural history study of MNGIE is therefore very important to help inform the design of these clinical trials and to identify appropriate clinical and biochemical outcome measure. This international natural history study aims to include as many patients with MNGIE (living or deceased) as possible, worldwide. This study will collect anonymised clinical information through a secure online REDcap database hosted at the University of Cambridge. Focus will be on describing clinical progression, and identifying biochemical, molecular, histological, and histochemical parameters that can help in early diagnosis, improve prognosis, and better understand therapeutic outcomes. The study is funded by Pierrepont Therapeutics Inc, and has received ethical approval from the University of Cambridge Human Biology Research Ethics Committee. Clinicians caring for MNGIE patients, are invited to contact the study team, and will then receive a direct link to the survey. Patients are asked to share information about the study with their treating clinician, if they would like their (anonymous) clinical information to be included in the study. More information and contact details are available online (https://mitocamb.medschl.cam.ac.uk/our-research/research-studies/understanding-studies/a-retrospective-natural-history-study-of-subjects-affected-by-mitochondrial-neurogastrointestinal-encephalomyopathy-mngie/).

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.