RecruitingOBSERVATIONAL

Monogenic Diabetes Misdiagnosed as Type 1

This research is looking into a common problem: people being told they have Type 1 diabetes when they actually have a less common type called monogenic diabetes. Monogenic diabetes is caused by changes in a single gene, and it's often treated differently from Type 1 diabetes. The study will analyse blood samples from thousands of young people diagnosed with Type 1 diabetes to see if they lack certain markers typical of Type 1. If so, they'll check their genes for monogenic diabetes. They also want to identify factors that can help doctors tell the difference between these types of diabetes more easily. Finally, the study hopes to find entirely new genes that cause monogenic diabetes, which could improve diagnosis and care for future patients.

At a glance

Status

Recruiting

Sponsor

McGill University Health Centre/Research Institute of the McGill University Health Centre

Enrolment target

5,000

Start

24 Sep 2019

Estimated completion

31 Dec 2025

Diabetes Mellitus, Type 1 Monogenic Diabetes Neonatal Diabetes Maturity-onset Diabetes in the Young (MODY)Wolfram Syndrome Wolcott-Rallison Syndrome Mitochondrial Diabetes

What is this study about?

This research study is about a type of diabetes called monogenic diabetes. Unlike Type 1 diabetes, which is an autoimmune condition, monogenic diabetes is caused by a change in a single gene. The important thing is that monogenic diabetes is often mistaken for Type 1 diabetes, especially in younger people. This can be a problem because the treatment for monogenic diabetes can be very different, and sometimes people can even switch from insulin injections to tablets if they have the correct diagnosis.

The study has two main goals. Firstly, it wants to find out just how often monogenic diabetes is confused with Type 1 diabetes in young people across Canada. It also aims to create a clearer guide or 'algorithm' to help doctors identify who might have monogenic diabetes rather than Type 1. Secondly, the researchers hope to discover entirely new genes that cause monogenic diabetes. Finding new genes is crucial because it helps us understand the disease better and can lead to improved diagnostic tests and more targeted treatments in the future.

To achieve this, the researchers will be looking at health information and gene tests from many young people who were diagnosed with diabetes before the age of 25. By carefully examining their genetic makeup, especially for those who don’t show the usual signs of Type 1 diabetes, they hope to shed light on this often-misunderstood condition and ultimately improve care for those affected.

Key takeaways

This study helps understand why some people are misdiagnosed with Type 1 diabetes.
It aims to find out how many people actually have monogenic diabetes.
The research hopes to discover new genes that cause monogenic diabetes.
Finding an accurate diagnosis can lead to better, more targeted treatment.
Participation mainly involves allowing researchers to use existing health data and blood samples.
If monogenic diabetes is identified, your care team will be informed.

Who may be eligible?

This study is looking for young people who have been diagnosed with diabetes. To be included, you must have received your diabetes diagnosis when you were 25 years old or younger. Your doctors might have told you it was Type 1 diabetes, or they might have been unsure about the exact type.

However, you cannot take part if you have already had tests for something called 'autoantibodies' for Type 1 diabetes, and those tests came back positive. These autoantibodies are usually a sign that you do have Type 1 diabetes. The study is specifically interested in people who might not fit the typical Type 1 diabetes picture.

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.

Were you diagnosed with diabetes before your 26th birthday?
Were you told you had Type 1 diabetes, or was the type of diabetes unclear?
Have you never had a positive test for Type 1 diabetes autoantibodies?
Are you willing for your anonymised health data and samples to be used for research?

Answer every question to see your result.

What does participation involve?

If you take part in this study, the researchers will primarily use existing health information and stored blood samples. You will not need to attend extra visits or take any new medications. The main step for you would involve giving permission for your medical records and possibly a blood sample (if one is available from your past care) to be used for genetic testing. The researchers will be looking for specific genetic changes related to monogenic diabetes. They will also look at other details like your age when you developed diabetes, family history, and insulin doses. If a genetic change linked to monogenic diabetes is found, your medical team will be informed. The total duration of your individual participation in terms of active involvement would be minimal, mainly concerning the initial consent.

Potential risks and benefits

A potential benefit of taking part is that if the study finds you have monogenic diabetes instead of Type 1, this could lead to a more accurate diagnosis and potentially a different, more effective treatment plan for you. There are no direct physical risks from participating, as the study uses existing information and samples. Potential risks are mainly related to privacy, but patient data will be handled carefully to protect your identity. You are always free to withdraw from the study at any time, without giving a reason, and this will not affect your medical care.

Locations (1)

The Montreal Children's Hospital
Verified postcode
Montreal, Canada· Recruiting

Common questions

What is monogenic diabetes?

Monogenic diabetes is a type of diabetes caused by a change in a single gene. It's different from Type 1 and Type 2 diabetes, which are caused by multiple factors.

Why is it important to know if I have monogenic diabetes?

Knowing you have monogenic diabetes can change your treatment. Sometimes, people with monogenic diabetes can switch from insulin injections to tablets, or they might need different doses of medication.

How is monogenic diabetes diagnosed?

It's usually diagnosed through a special blood test called genetic testing, which looks for specific changes in your genes.

Will I have to take any new medicines for this study?

No, this study does not involve taking any new medications. It mainly involves looking at your medical information and possibly existing blood samples.

What happens if they find a genetic change linked to monogenic diabetes in me?

If they find a relevant genetic change, the results will be shared with your diabetes care team, who can then discuss what this means for your diagnosis and treatment.

How to find out more

Constantin Polychronakos, MD

constantin.polychronakos@mcgill.ca 5144124400 Official trial record

Always speak to your GP or specialist before deciding to take part in a study.