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

NCT06746610 | Recruiting

• 1 other identifier: IRB2022-YX-164-01
• Study Type: interventional
• Target: 2,000
• Locations: 1 country
• Sites: 1

Brief Summary

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

Conditions

Monogenic Diabetes

Outcome Measures

Primary Outcomes (1)

• Genetic landscape of monogenic diabetes mellitus in China

  24 months

Study Arms (1)

Monogenic Diabetes Genetic Screening and Molecular Diagnosis

OTHER

Diagnostic Test: Genetic Screening for Monogenic Diabetes

Interventions

Genetic Screening for Monogenic Diabetes DIAGNOSTIC_TEST

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.

Monogenic Diabetes Genetic Screening and Molecular Diagnosis

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

• 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;
• Body mass index (BMI) at diagnosis \< 28 kg/m2;
• Anti glutamic acid decarboxylase antibody (GAD Ab), anti islet cell antibody (ICA Ab), and anti insulin autoantibody (IAA Ab) were all negative;

You may not qualify if:

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

Sponsors & Collaborators

• Tianjin Medical University General Hospital: lead

Study Sites (1)

Tianjin Medical University General Hospital

Tianjin, 300052, China

RECRUITING

MeSH Terms

Interventions

Genetic Testing

Intervention Hierarchy (Ancestors)

Clinical Laboratory Techniques; Diagnostic Techniques and Procedures; Diagnosis; Investigative Techniques; Genetic Techniques; Genetic Services; Health Services; Health Care Facilities Workforce and Services; Diagnostic Services; Preventive Health Services

Central Study Contacts

Ming Liu

CONTACT

+86 183 2201 7516; mingliu@tmu.edu.cn

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NA
• Masking: NONE
• Purpose: SCREENING
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Attending Physician

Study Record Dates

• First Submitted: December 18, 2024
• First Posted: December 24, 2024
• Study Start: August 1, 2022
• Primary Completion (Estimated): July 31, 2027
• Study Completion (Estimated): July 31, 2027
• Last Updated: December 24, 2024

Record last verified: 2024-10

Locations

CN (1)