MNGIE Natural History Study
Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
AgeNot listed
SponsorUniversity of Cambridge
About this trial
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
This trial does not accept healthy volunteersQualifiers
any age or stage of disease; living or deceased
both previously published and unpublished patients
symptomatic and asymptomatic patients
Homozygous or compound heterozygous pathogenic or likely pathogenic mutations in the TYMP gene; and/or
Disqualifiers
There are no formal exclusion criteria for this retrospective observational study.
Trial 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.
Trial design
Design model
Other
Time perspective
Retrospective
Treatments tested in this trial
Not listed
Trial groups
No trial groups listed
Trial outcomes
Primary outcomes
1
Survival time
Time frame
At enrollmentOther outcomes
1
Demographics
Previously published in literature (if applicable refence DOI and patient number) Year and month of birth Current age Gender Ethnic Group Country of origin/birth Year at diagnosis (or, if not known, approximate age interval) Year at symptom onset Family history positive for MNGIE (if yes: to provide the number of family members with MNGIE, and study ID if data entered by same clinician)
Time frame
At enrollment2
Genetic diagnosis
Year at the time of genetic testing Type and date of genetic testing (WES, WGS, mtDNA fully sequenced, mtDNA panel, mtDNA tested by RFLP/Sanger, Panel sequencing, Single gene sequencing, Real-time PCR, Long-range PCR, Southern blot, Other) Mutation type Mutation at the cDNA level Mutation at the protein level (NM and NP)
Time frame
At enrollment3
Major clinical events
Age at the time of clinical events Bowel pseudo-obstructions Loss of ambulation Seizures Stroke-like episodes Surgeries Mechanical ventilation (hours of ventilation needed per day) Dependency on parental nutrition (type of parental feeding, amount of daily calories provided) Other
Time frame
At enrollment4
Collection of relevant medical history
Human Phenotype Ontology terms of medical history and clinical features (retrospective)
Time frame
At enrollmentSponsors and contacts
Click on the lead sponsor to view all of their trials.
University of Cambridge
Lead sponsor
University of Bologna
Collaborator
Source ClinicalTrials.gov