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A Retrospective Natural History Study Of Subjects Affected By Mitochondrial Neurogastrointestinal Encephalomyopathy MNGIE
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ID07627217
A Retrospective Natural History Study of Subjects Affected by Mitochondrial Neurogastrointestinal Encephalomyopathy MNGIE
Led by University of Cambridge
Updated on 2026-06-04
Participants Needed
1
Research Sites
N/A
Total Duration
On this page
- AI-Summary
- Brief Title
- Who Can Participate
- AI-Screening
- Your Study Journey
- Trial Site Locations
- Research Team
- How is the study designed?
- Similar Trials
- Frequently Asked Questions
- Sponsors
AI-Summary
What This Trial Is About
Researchers are conducting a retrospective natural history study to better understand Mitochondrial Neurogastrointestinal Encephalomyopathy MNGIE, a rare genetic disease caused by mutations in the TYMP gene leading to enzyme deficiency. This disease causes severe gastrointestinal symptoms, muscle weakness, and nerve problems, often leading to early death. The study aims to collect detailed clinical and laboratory data from patients worldwide to improve diagnosis, prognosis, and guide future treatment trials. The study collects anonymized clinical information from both living and deceased patients with confirmed thymidine phosphorylase deficiency, including previously published and unpublished cases. It focuses on describing disease progression and identifying clinical, biochemical, molecular, and histological markers. Data is gathered and securely stored in an online database to support future research and development of new therapies such as gene and enzyme replacement treatments. Participants are involved through their clinicians, who provide anonymous clinical data via a secure online platform. The study measures survival time at enrollment and examines symptoms, biomarkers, and treatment impacts across patient subgroups. The large international database helps researchers understand MNGIE's clinical course, supports emerging treatments, and informs the design of future clinical trials. The study is funded by Pierrepont Therapeutics Inc and ethically approved by the University of Cambridge.
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CONDITIONS
Brief Title
MNGIE Natural History Study
Who Can Participate
All Genders
Eligibility Criteria
You may qualify if you...
- Any patient with laboratory-confirmed thymidine phosphorylase deficiency
- Any age or stage of disease
- Living or deceased patients
- Both previously published and unpublished patients
- Symptomatic or asymptomatic patients
- Diagnosis confirmed by at least one of: pathogenic mutations in TYMP gene, decreased enzyme activity below 20% of normal, or elevated plasma thymidine or deoxyuridine levels
You will not qualify if you...
- There are no formal exclusion criteria for this retrospective observational study.
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
- First name *
- Last name *
- Email Address *
- Phone Number *
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- ZIP Code *
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Your Study Journey
Screening
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
- 1 visit (in-person or remote data collection)
Surveillance
Duration - Retrospective data covering various stages of disease progression
Participants who have laboratory-confirmed thymidine phosphorylase deficiency are observed through retrospective collection of clinical data to characterize the presentation and progression of MNGIE.
- Data collection from medical records and clinician reports
Trial Site Locations
Total: 1 location
- Department of Clinical Neurosciences
- Cambridge, United Kingdom
Actively Recruiting
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Research Team
- Jelle van den Ameele
- Caterina Garone
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
0
Frequently Asked Questions
Have more questions? Get in touch with our team for quick support
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On this page
- AI-Summary
- Brief Title
- Who Can Participate
- AI-Screening
- Your Study Journey
- Trial Site Locations
- Research Team
- How is the study designed?
- Similar Trials
- Frequently Asked Questions
- Sponsors
Sponsors
- University of Cambridge
- Lead Sponsor
- University of Bologna
- Collaborating Sponsor
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