Recruiting

Observational Study

Sponsor:

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

Code:

NCT03988764

Conditions

Diabetes Mellitus, Type 1

Monogenic Diabetes

Neonatal Diabetes

Maturity-onset Diabetes in the Young (MODY)

Wolfram Syndrome

Eligibility Criteria

Sex: All

Age: 0 - 25

Healthy Volunteers: Accepted

Interventions

None AHT

Study Details

Brief summary:

The study has two aims:

1. To (1a) determine the frequency of monogenic diabetes misdiagnosed as type 1 diabetes (T1D) and (2) to define an algorithm for case selection.
2. To discover novel genes whose mutations cause monogenic diabetes misdiagnosed as T1D.

Conditions

Diabetes Mellitus, Type 1

Monogenic Diabetes

Neonatal Diabetes

Maturity-onset Diabetes in the Young (MODY)

Wolfram Syndrome

Study ID

NCT03988764

Start date

Sep 24, 2019

Status verified date

Dec, 2024

Completion date

Dec 31, 2025

Anticipated

Primary completion date

Dec 31, 2025

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 0 - 25

Healthy Volunteers: Accepted

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

Study Design

Enrollment

5000 participants

Anticipated

Interventions and Outcome Measures

Arms

Antibody-negative

Patient has been found negative for at least three T1D antibodies.

The investigators will proceed with whole exome sequencing

Antibody-positive

Patient has been found to be positive for at least one T1D autoantibody.

No further studies will be performed as part of the main study.

Interventions

None AHT

No further intervention planned for either group as part of the current study.

Primary outcome measure

  • Proportion of monogenic diabetes among patients diagnosed as type 1 diabetes. [ Time Frame: 6 years ]
  • Proportion of patients carrying mutations in previously unstudied genes that meet statistical criteria of pathogenicity for monogenic diabetes. [ Time Frame: 7 years ]

Central Contacts and Locations

Central contacts

Constantin Polychronakos, MD

5144124400constantin.polychronakos@mcgill.ca

Angeliki Makri, MD

5144124400angeliki.makri@mcgill.ca

Locations

The Montreal Children's Hospital

Recruiting

Montreal, Quebec, Canada, H4A 3J1

Contacts

Natalija Popovic, PhD

514-934-1934natalija.popovic@muhc.mcgill.ca

Angeliki Makri, MD

514-934-1934angeliki.makri@mcgill.ca

More Information

Sponsor

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

Last update posted

Dec 10, 2024

Last verified

Dec, 2024

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-10. This information was provided to ClinicalTrials.gov by McGill University Health Centre/Research Institute of the McGill University Health Centre on 2024-12-10.