MNGIE Natural History Study
This research is focused on a very rare inherited condition called Mitochondrial Neurogastrointestinal Encephalomyopathy, or MNGIE. The study, led by the Universities of Cambridge and Bologna, is gathering information on how MNGIE typically progresses over time. This is really important because new treatments, like gene therapies, are being developed and will soon be tested in clinical trials. By understanding MNGIE better now, researchers can design these future trials more effectively and identify what measures will best show if a treatment is working. The study is collecting anonymous health details from MNGIE patients, both living and deceased, from all over the world to build a comprehensive picture of the disease.
At a glance
What is this study about?
Imagine a detective trying to solve a mystery without all the clues. That's a bit like what doctors face with MNGIE, a very rare and serious genetic condition that affects the digestive system, muscles, and nerves. This study is like gathering all those missing clues to create a complete picture of MNGIE.
Researchers from the Universities of Cambridge and Bologna are working together to understand MNGIE better. They are looking at how the disease changes and develops over a person's lifetime. They are particularly interested in seeing what symptoms appear, how bad they get, and what other health issues might arise. This information is called the 'natural history' of the disease, and it's essential for guiding future medical advancements.
The exciting news is that new and promising treatments for MNGIE, including cutting-edge gene therapies, are being developed. Before these new treatments can be tested in patients, researchers need a clear understanding of MNGIE itself. This study provides that vital foundation, helping scientists design future treatment trials more effectively. It will help them understand what changes in a patient's health truly mean a treatment is working, and how best to measure those changes.
Key takeaways
- This study aims to better understand the rare disease MNGIE.
- It collects anonymous information about how MNGIE progresses over time.
- The findings will help design better future clinical trials for new MNGIE treatments.
- Participation involves your doctor sharing your anonymous medical history.
- No new tests, treatments, or clinic visits are required.
- Your contribution helps advance MNGIE research for future patients.
Who may be eligible?
This study aims to include anyone who has been diagnosed with MNGIE, regardless of their age or how far along their disease is. We are interested in hearing about patients who are currently living, as well as those who have passed away.
To be included, the diagnosis of MNGIE needs to be confirmed by laboratory tests. This could mean having specific changes in the 'TYMP' gene, having low levels of a certain enzyme called thymidine phosphorylase (TP), or having higher than normal levels of particular substances in the blood (dThd or dUrd).
There are no reasons to be excluded from this study. If you or someone you know meets the diagnostic criteria for MNGIE, whether they have symptoms or not, they could be included.
Could this study suit you?
Answer these quick questions to see if you may be eligible. This is a guide only — the research team makes the final call.
- Do I have a confirmed diagnosis of MNGIE?
- Has my MNGIE diagnosis been confirmed by specific genetic or enzyme tests?
- If I want to take part, am I willing to ask my doctor to contact the study team?
- Am I happy for my past and present anonymous medical information to be shared for research?
What does participation involve?
Taking part in this study is straightforward and doesn't involve any hospital visits, new tests, or changes to your current medication. It's a 'retrospective' study, meaning researchers are looking back at existing medical information. If you'd like your anonymous health information to be included, you would need to speak with your doctor or the healthcare professional who treats your MNGIE. They would then contact the study team to share your past and current medical details securely and anonymously. You won't directly provide information yourself; your doctor will do this on your behalf, ensuring your privacy.
Potential risks and benefits
Locations (1)
- Department of Clinical NeurosciencesVerified postcodeCambridge, United Kingdom· Recruiting
Common questions
What is MNGIE?
MNGIE is a very rare inherited illness that affects several parts of the body, including the digestive system, muscles, and nerves.
Who is running this study?
This study is a joint effort between researchers at the University of Cambridge in the UK and the University of Bologna in Italy.
Do I need to visit a clinic or take new medicines?
No, this study only collects existing health information. You won't need to visit a clinic or change your current medications.
Will my personal details be shared?
No, all information shared will be anonymous, meaning your name or any identifying details will not be linked to the data.
How can I help with this study?
If you have MNGIE and want to be included, please talk to your doctor. They can then contact the study team to share your anonymous information.
How to find out more
Jelle van den Ameele
Always speak to your GP or specialist before deciding to take part in a study.
Interested in taking part?
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