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

Tianjin Medical University General Hospital2,000 enrolled

Overview

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 Type

INTERVENTIONAL

Allocation

Purpose

SCREENING

Masking

NONE

Enrollment

2,000

Conditions

Monogenic Diabetes

Interventions

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： 1. The clinical trial of individualized treatment was carried out for the individuals with diabetes with HNF1A mutation. 2. 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. 3. 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.

Eligibility

Sex: ALL

Medical Language ↔ Plain English

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.

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

Overview

Conditions

Interventions

Eligibility

Locations (1)

Outcomes

Primary Outcomes

Central Contacts