MNGIE Natural History Study

NCT07627217 | Recruiting

• 1 other identifier: HBREC.2025.15
• Study Type: observational
• Target: 50
• Locations: 1 country
• Sites: 1

Brief Summary

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/).

Conditions

MNGIE; Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE)

Keywords

Natural History Study; Retrospective data collection

Outcome Measures

Primary Outcomes (1)

• Survival time

  At enrollment

Other Outcomes (20)

• Demographics

  At enrollment

• Genetic diagnosis

  At enrollment

• Major clinical events

  At enrollment

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

The minimum required data for inclusion, and to allow verification of duplicate patients, will include year of birth, sex, and method of biochemical or genetic diagnosis of MNGIE as defined under the inclusion criteria. Patients may be living or deceased.

You may qualify if:

• any age or stage of disease; living or deceased
• both previously published and unpublished patients
• symptomatic and asymptomatic patients
• TP deficiency defined by a and/or b and/or c:
• Homozygous or compound heterozygous pathogenic or likely pathogenic mutations in the TYMP gene; and/or
• Decreased TP enzyme activity \<20% of normal; and/or
• Increased plasma dThd\> 1 µmol/L, or increased plasma dUrd \> 5 µmol/L.

Sponsors & Collaborators

• University of Cambridge: lead
• University of Bologna: collaborator

Study Sites (1)

Department of Clinical Neurosciences

Cambridge, United Kingdom

RECRUITING

Study Officials

• Jelle van den Ameele

  University of Cambridge

  PRINCIPAL INVESTIGATOR

• Caterina Garone

  University of Bologna

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Jelle van den Ameele

CONTACT

+44 (0)1223252700; add-tr.mitoteam@nhs.net

Caterina Garone

CONTACT

+39 051 2094763; caterina.garone@unibo.it

Study Design

• Study Type: observational
• Observational Model: OTHER
• Time Perspective: RETROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Honorary Consultant Neurologist and Principal Investigator

Study Record Dates

• First Submitted: May 15, 2026
• First Posted: June 4, 2026
• Study Start: March 17, 2026
• Primary Completion (Estimated): July 31, 2027
• Study Completion (Estimated): July 31, 2027
• Last Updated: June 4, 2026

Record last verified: 2026-05

Data Sharing

• IPD Sharing: Will not share

Locations

GB (1)