Screening and Molecular Diagnosis-based Individualized Precision Management of Monogenic Diabetes

The goal of this observational study is to establish a registry, screening, and individualized management platform for patients with monogenic diabetes mellitus(MDM) using internet-based and mobile application software. The main questions it aims to answer are:

• What are the genetic mutations causing MDM in China (genetic landscape)?
• How effective and safe is the individualized, molecular-diagnosis-based management platform for MDM in improving patient outcomes?

Participants will:

• Register in the MDM platform via mobile app or internet-based software
• Undergo genetic screening for MDM diagnosis
• Participate in follow-up visits for individualized management and monitoring of blood glucose control and outcomes

Study Overview

• Status: Recruiting
• Conditions: Monogenic Diabetes
• Intervention / Treatment: Diagnostic test: Genetic Screening for Monogenic Diabetes

• Study Type: Interventional
• Enrollment (Estimated): 2000
• Phase: Not Applicable

Contacts and Locations

• Study Contact: Name: Ming Liu; Phone Number: +86 183 2201 7516; Email: mingliu@tmu.edu.cn

Study Locations

• China
  • Tianjin, China, 300052
    • Recruiting
    • Tianjin Medical University General Hospital
    • Contact: Ming Liu; Phone Number: +86 183 2201 7516; Email: mingliu@tmu.edu.cn

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: No

Description

Inclusion Criteria:

1. Diabetes patients who developed before 25 years old; Or they were diagnosed with diabetes before the age of 35, and two or more immediate relatives were diagnosed with diabetes before the age of 45;
2. Body mass index (BMI) at diagnosis < 28 kg/m2;
3. Anti glutamic acid decarboxylase antibody (GAD Ab), anti islet cell antibody (ICA Ab), and anti insulin autoantibody (IAA Ab) were all negative;

Exclusion Criteria:

1. Secondary diabetes patients with other endocrine diseases, such as hyperthyroidism or hypothyroidism, hyperparathyroidism or hypothyroidism, acromegaly, Cushing's syndrome, autoimmune multiple endocrine diseases, etc.;
2. Systemic use of corticosteroids, immunosuppressants, and other drugs within the past 6 months;
3. Patients with malignant tumors.

Study Plan

How is the study designed?

Design Details

• Primary Purpose: Screening
• Allocation: N/A
• Interventional Model: Single Group Assignment
• Masking: None (Open Label)

Number of Arms

1

Arms and Interventions

Participant Group / Arm

Intervention / Treatment

Other: Monogenic Diabetes Genetic Screening and Molecular Diagnosis

Diagnostic test: Genetic Screening for Monogenic Diabetes; This intervention involves genetic testing for monogenic diabetes (MDM) in recruited participants. The testing includes either a panel test specifically targeting genes associated with monogenic diabetes or whole exome sequencing (WES) to comprehensively identify genetic variants linked to MDM. Precise diagnosis and treatmen： The clinical trial of individualized treatment was carried out for the individuals with diabetes with HNF1A mutation.; The research team will closely follow up individuals with GCK mutation diabetes after suspending the current hypoglycemic drugs, and evaluate their clinical glucose metabolism related indicators.; Observe the dosage of sulfonylurea drugs used in individuals with different disease course and pancreatic function, and observe the impact of disease course and pancreatic function on the success rate of oral drug replacement.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Time Frame
Genetic landscape of monogenic diabetes mellitus in China	24 months

Collaborators and Investigators

• Sponsor: Tianjin Medical University General Hospital

Study record dates

Study Major Dates

• Study Start (Actual): August 1, 2022
• Primary Completion (Estimated): July 31, 2027
• Study Completion (Estimated): July 31, 2027

Study Registration Dates

• First Submitted: December 18, 2024
• First Submitted That Met QC Criteria: December 18, 2024
• First Posted (Actual): March 25, 2025

Study Record Updates

• Last Update Posted (Actual): March 25, 2025
• Last Update Submitted That Met QC Criteria: December 18, 2024
• Last Verified: October 1, 2024

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Endocrine System Diseases; Metabolic Diseases; Glucose Metabolism Disorders; Diabetes Mellitus
• Other Study ID Numbers: IRB2022-YX-164-01

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No
• product manufactured in and exported from the U.S.: No