MNGIE Natural History Study

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This is an international retrospective observational study conducted by the University of Cambridge and the University of Bologna. It aggregates existing clinical data from people with TYMP-related MNGIE to describe disease onset, progression, and key clinical features. Data are entered into a secure REDCap database to enable comprehensive profiling of symptoms, organ involvement, and outcomes across the lifespan. The study does not involve any intervention and aims to inform future trials by improving understanding of natural history and outcome measures. Inclusion covers laboratory-confirmed TP deficiency across all ages and disease stages, including living or deceased individuals.

Why it matters

Who can join: the full rules

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* both previously published and unpublished patients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.

Where it's running

• Department of Clinical Neurosciences
  Cambridge, United Kingdom Recruiting

Study contacts

• Principal investigator: Jelle van den Ameele — University of Cambridge
• Study coordinator: Jelle van den Ameele
• Email: add-tr.mitoteam@nhs.net
• Phone: +44 (0)1223252700

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.