The University of Cambridge Department of Clinical Neurosciences, in collaboration with the University of Bologna, invite you to participate in a natural history study of patients with Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE), a collaborative study between University of Cambridge (Dr. Jelle van den Ameele) and University of Bologna (Prof. Caterina Garone). We are looking for clinicians who follow/have followed patients affected by MNGIE, either in a clinical or in a research setting, and who would be willing to share anonymised clinical information via an online secure survey.

Innovative treatment strategies are emerging for MNGIE, including gene therapies and other advanced medicinal therapies. Some of these will soon be tested in clinical trials. However, a comprehensive and up-to-date natural history study of MNGIE will be crucial to inform the design of these clinical trials and to select appropriate clinical and biochemical outcome measures.

This natural history study aims to include as many cases of MNGIE as possible, by recruiting worldwide, including both published and unpublished patients, as well as patients who are already part of other disease registries. We will focus 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 Pierrepoint Therapeutics Inc, and has received ethical approval from the University of Cambridge Human Biology Research Ethics Committee.

Anonymous data will be collected in a secure REDCap database through this questionnaire/survey link: https://redcap.camide.cam.ac.uk/surveys/?s=AEMTFMMCPMDM4MYA, to be completed by a clinician or their delegates. All data will be stored in a secure environment at the University of Cambridge (United Kingdom(UK)).

Completing the survey will take approximately 30 minutes to 1 hour. Attached is a list of the types of data that will be collected, for your information, as well as REDCap guides for entering the data.

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