Screening and Molecular Diagnosis-Based Personalized Management of Monogenic Diabetes Using Genetic Testing and Digital Tools

What this Trial Is About

Researchers are investigating monogenic diabetes mellitus (MDM) in China by creating a registry and a platform for screening and personalized management using internet and mobile applications. The study aims to understand the genetic mutations behind MDM in Chinese patients and evaluate the safety and effectiveness of a molecular diagnosis-based individualized treatment approach. This observational study focuses on improving patient outcomes through precision management tailored to genetic information. Participants will undergo genetic testing for MDM, including targeted gene panel tests or whole exome sequencing, to identify mutations causing the disease. Those diagnosed with specific mutations, such as HNF1A or GCK, will receive individualized treatment plans. For example, patients with HNF1A mutations participate in clinical trials of tailored therapies, while those with GCK mutations are monitored after stopping hypoglycemic drugs. The study also tracks the use and effectiveness of sulfonylurea drugs based on disease progression and pancreatic function. During the study, participants register through a mobile app or internet software and undergo genetic screening to confirm diagnosis. Follow-up visits monitor blood glucose control and treatment outcomes, ensuring ongoing individualized management. The primary outcome is to map the genetic landscape of monogenic diabetes in China over 24 months, with continuous assessment of safety and effectiveness of the personalized management platform.

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