| NCT ID | NCT07627217 |
| Status | Recruiting |
| Phase | — |
| Sponsor | University of Cambridge |
| Condition | MNGIE |
| Study Type | OBSERVATIONAL |
| Enrollment | 50 participants |
| Start Date | 2026-03-17 |
| Primary Completion | 2027-07-31 |
Eligibility & Interventions
Eligibility Fast-Check
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What to Expect as a Participant
This is an observational study. You will not receive an experimental treatment; researchers will collect data based on your existing condition or standard treatment.
This trial targets 50 participants in total. It began in 2026-03-17 with a primary completion date of 2027-07-31.
⚠ This information is for research awareness only. Always consult your physician before joining any clinical trial. Participation is voluntary and you may withdraw at any time.
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/).
Eligibility Criteria
Inclusion Criteria: All patients with a laboratory-confirmed TP deficiency: * 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: 1. Homozygous or compound heterozygous pathogenic or likely pathogenic mutations in the TYMP gene; and/or 2. Decreased TP enzyme activity \<20% of normal; and/or 3. Increased plasma dThd\> 1 µmol/L, or increased plasma dUrd \> 5 µmol/L. Exclusion Criteria: * There are no formal exclusion criteria for this retrospective observational study.
Contact & Investigator
Jelle van den Ameele
PRINCIPAL INVESTIGATOR
University of Cambridge
Frequently Asked Questions
Who can join the NCT07627217 clinical trial?
This trial is open to participants of all sexes, studying MNGIE. Full inclusion and exclusion criteria are listed in the Eligibility Criteria section. Always confirm your eligibility with the research team before applying.
Is NCT07627217 currently recruiting?
Yes, NCT07627217 is actively recruiting participants. Contact the research team at add-tr.mitoteam@nhs.net for enrollment information.
Where is the NCT07627217 trial being conducted?
This trial is being conducted at Cambridge, United Kingdom.
Who is sponsoring the NCT07627217 clinical trial?
NCT07627217 is sponsored by University of Cambridge. The principal investigator is Jelle van den Ameele at University of Cambridge. The trial plans to enroll 50 participants.