Identifying Monogenic Diabetes Misdiagnosed as Type 1
Accurate Diagnosis of Diabetes for Appropriate Management
This study is trying to find out how often young people are wrongly diagnosed with type 1 diabetes when they actually have a rare form called monogenic diabetes, by testing their blood and looking for specific genetic changes.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 5000 (estimated) |
| Ages | 1 Day to 25 Years |
| Sex | All |
| Sponsor | McGill University Health Centre/Research Institute of the McGill University Health Centre Academic / other |
| Locations | 1 site (Montreal, Quebec) |
| Trial ID | NCT03988764 on ClinicalTrials.gov |
What this trial studies
This observational study aims to determine how often monogenic diabetes is misdiagnosed as type 1 diabetes (T1D) in individuals under 25 years old. It will recruit 5,000 participants from 17 clinics across Canada, testing them for specific autoantibodies and performing exome sequencing on those negative for all four antibodies. The study will analyze various clinical variables to develop a predictive algorithm for identifying monogenic diabetes cases. Additionally, it seeks to discover novel genetic mutations associated with monogenic diabetes that may have been overlooked.
Who should consider this trial
Good fit: Ideal candidates are individuals diagnosed with diabetes under the age of 25 who have either type 1 diabetes or an undetermined type.
Not a fit: Patients with a positive result on existing T1D autoantibody testing will not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to more accurate diagnoses and tailored treatments for patients with monogenic diabetes.
How similar studies have performed: Other studies have shown success in identifying genetic causes of diabetes, but this specific approach to misdiagnosis is relatively novel.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria: * Diagnosis of diabetes under the age of 25 as either type 1 or undetermined type. Exclusion Criteria: * Existing T1D autoantibody testing with a positive result
Where this trial is running
Montreal, Quebec
- The Montreal Children's Hospital — Montreal, Quebec, Canada (Recruiting)
Study contacts
- Study coordinator: Constantin Polychronakos, MD
- Email: constantin.polychronakos@mcgill.ca
- Phone: 5144124400
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.