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RecruitingNAINTERVENTIONAL

Role of High-Throughput Whole Genome Sequencing for the Diagnosis and Care of Atypical Diabetes

Doctors are studying a new, very detailed DNA test called 'whole genome sequencing' (WGS) to help diagnose and treat people with unusual forms of diabetes. Many people have diabetes, but for some, it's hard to figure out exactly which type they have, even with current tests. This study will compare WGS with standard testing to see if it can more accurately identify the specific genetic causes of these atypical diabetes cases. When combined with discussions among a team of specialists, the researchers hope this new testing will lead to clearer diagnoses and more personalised care plans. They want to find out if WGS helps identify more genetic changes linked to diabetes and if this information genuinely changes how patients are looked after. This could mean better treatments and support for people currently struggling with unexplained diabetes.

At a glance

Status
Recruiting
Phase
NA
Sponsor
Institut National de la Santé Et de la Recherche Médicale, France
Enrolment target
1,020
Start
30 Oct 2024
Estimated completion
01 Nov 2034

What is this study about?

When someone has diabetes, it often falls into well-known categories like type 1 or type 2. However, for some people, their diabetes doesn't fit neatly into these groups; this is called 'atypical diabetes'. It can be really challenging for doctors to pinpoint the exact cause, which can make it harder to decide on the best treatment and support.

This study is looking at an advanced DNA test called 'whole genome sequencing' (WGS). Think of WGS as reading your body's entire instruction manual (your DNA) from start to finish. This is much more detailed than many current tests, which might only look at specific chapters or pages. The researchers want to see if this super-detailed DNA information, combined with a meeting of diabetes experts, can help solve the puzzle of atypical diabetes better than the tests usually available. They're comparing it to current standard gene testing, which looks at a smaller, specific set of genes.

The main goal is to find out two things. First, is it practical to use this advanced WGS testing and expert discussions in day-to-day care for people with atypical diabetes? Second, and perhaps most importantly, does this approach actually help identify more genetic reasons for diabetes, and does that knowledge lead to real changes and improvements in how patients are treated and supported? Over five years, the study will follow over 1000 adults with atypical diabetes to gather this important information. If successful, this could pave the way for more precise diagnoses and better, more tailored care for people with these harder-to-understand forms of diabetes.

Key takeaways

  • Aims to find better ways to diagnose unusual forms of diabetes.
  • Uses advanced DNA testing (whole genome sequencing) compared to current methods.
  • Hopes to provide clearer diagnoses and more personalised treatment for patients.
  • Will follow participants for five years to see long-term impact on care.
  • Focuses on adults with diabetes diagnosed at a younger age and with certain 'atypical' features.

Who may be eligible?

This study is looking for adults aged 18 or over who have been diagnosed with diabetes. The diabetes diagnosis must have occurred before they turned 45, and their weight (Body Mass Index) must have been 35 kg/m² or less at the time of diagnosis.

To be considered, they also need to have what is called 'atypical diabetes.' This means their diabetes doesn't quite fit the usual patterns. For example, they might have certain stomach conditions affecting the pancreas, a family history of diabetes, or some unusual physical features not typically linked to diabetes complications. Also, they shouldn't have had certain diabetes-related antibodies, which usually point to Type 1 diabetes.

Patients who are pregnant or breastfeeding, have known allergies to certain medical scans, or have already been diagnosed with a specific genetic form of diabetes (or have very close relatives with it) would not be able to participate. You must also be willing to follow all study procedures and have a social security number.

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.

  1. Are you 18 years old or older?
  2. Was your diabetes diagnosed before you turned 45?
  3. Was your Body Mass Index (BMI) 35 kg/m² or less when you were diagnosed with diabetes?
  4. Do you have an 'atypical' form of diabetes (your doctors find it hard to classify)?
  5. Are you not currently pregnant or breastfeeding?
  6. Have you not already been diagnosed with a specific genetic type of diabetes?
Answer every question to see your result.

What does participation involve?

If you decide to take part in this study, you will first have an initial visit where blood samples will be taken for the genetic tests. After this, you will be followed by the study team for five years. During this time, they will monitor your health and diabetes care to see how the information from the genetic testing has impacted your diagnosis and treatment. This will involve regular check-ups and discussions with your healthcare team. The study aims to understand the long-term effects, so your commitment over these five years would be important.

Potential risks and benefits

Taking part in this study might offer you the potential benefit of a more precise diagnosis for your atypical diabetes, which could lead to more tailored and effective treatment plans. However, as with any medical study, there are potential risks, such as the discomfort of blood draws or the psychological impact of receiving genetic information. You have the right to withdraw from the study at any time, for any reason, without it affecting your usual medical care.

Locations (26)

  • University Hospital
    Verified postcode
    Amiens, France· Recruiting
  • University Hospital
    Verified postcode
    Angers, France· Recruiting
  • University Hospital Jean Minjoz
    Verified postcode
    Besançon, France· Recruiting
  • University Hospital Haut Lévêque
    Verified postcode
    Bordeaux, France· Recruiting
  • University Hospital Cavale Blanche
    Verified postcode
    Brest, France· Recruiting
  • Centre Hospitalier Sud Francilien
    Verified postcode
    Corbeil-Essonnes, France· Recruiting
  • University Hospital Bocage
    Verified postcode
    Dijon, France· Recruiting
  • University Hospital Michallon
    Verified postcode
    Grenoble, France· Recruiting
  • Assistance Publique Hôpitaux de Paris, Bicêtre Hospital
    Verified postcode
    Le Kremlin-Bicêtre, France· Not yet recruiting
  • University Hospital Louis Pradel
    Verified postcode
    Lyon, France· Recruiting
  • University Hospital Sud
    Verified postcode
    Lyon, France· Recruiting
  • University Hospital Conception
    Verified postcode
    Marseille, France· Recruiting

Common questions

What does 'atypical diabetes' mean?

Atypical diabetes means your diabetes doesn't fit the usual types, like Type 1 or Type 2, making it harder for doctors to diagnose and treat with standard approaches.

What is 'whole genome sequencing' (WGS)?

WGS is an advanced test that reads all of your DNA, like reading your body's complete instruction manual, to find very specific genetic causes for conditions like diabetes.

Will this study change my current diabetes treatment immediately?

The goal is for the study to help your doctors find a more precise diagnosis, which *could* eventually lead to changes in your treatment. However, any changes would be carefully discussed with you by your healthcare team.

How long will I be involved in the study?

If you join, you will be followed by the study team for a period of five years to see the long-term effects of the genetic testing and specialist discussions on your care.

Do I have to pay to be in this study?

No, you should not incur any costs for participating in the study procedures. It's likely covered by a research grant.

How to find out more

Jean-François Gautier

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

Interested in taking part?

Register your interest

Share your details and the research team for "Role of High-Throughput Whole Genome Sequencing for the Diag…" will contact you if you may be eligible. Always speak to your GP before agreeing to take part.

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