Genomic Study of Young-Onset Diabetes Mellitus
Status: Recruiting

Diabetes Mellitus (DM) has been a major contributor to health burden in Indonesia and currently its burden still continues to rise. This is a result of increasing DM prevalence in the country as well as high rates of chronic complications from DM. Findings in Indonesia show that there is a high proportion of young people with diabetes, and also a high risk of therapeutic failure and complications from DM occurring in the younger population.

Young-onset DM has a wide clinical spectrum, including autoimmune DM, polygenic DM, and monogenic DM such as Mature Onset Diabetes of the Young (MODY). Identification and proper diagnosis of young-onset DM spectrum is crucial to treatment outcomes, as certain spectrums, such as some subtypes of MODY, may benefit from cost-efficient alternatives with better outcomes.

However, proper diagnosis of young-onset DM in Indonesia is still a great challenge, as currently some examinations, including genetic testing, has not yet been feasibly done in the country. With current advances in genomics, genetic testing may prove to be fundamental in providing optimal and personalized treatment and care for DM patients.

This study is a pilot project aimed to initiate genomic research in young-onset DM patients in Indonesia. In the short term, this study aims to identify genetic variants that may be able to increase diagnostic accuracy of the young-onset DM spectrum. In the long term, this study aims to identify new genetic variants of young-onset DM. The study also aims to identify genetic variants associated with risks of chronic complications.

Eligibility:
- EligibilityCriteria: Inclusion Criteria:  Diabetic patients  Diabetic patient fulfilling criteria from Indonesian Endocrinology Association (PERKENI) 2021 guidelines:  Fasting blood glucose 126 mg/dL 2-hour post oral glucose blood glucose/oral glucose tolerance test 200 mg/dL HbA1c 6.5% Random blood glucose 200 mg/dL with classic symptoms or hyperglycemic crisis. Patients aged 8-40 years old when diagnosed with diabetes mellitus Registered in Dr. Cipto Mangunkusumo National General Hospital and satellite hospitals Willing to participate in the study with proof of informed consent agreement  Exclusion Criteria:  Subject is experiencing severe illness  Healthy controls Inclusion criteria  Aged 8-40 years old  Fulfilling criteria of normal blood glucose levels according to Indonesian Endocrinology Association (PERKENI) 2021 guidelines:  Fasting blood glucose 100 mg/dL 2-hour post oral glucose blood glucose/oral glucose tolerance test 140 mg/dL HbA1c 5.7% Exclusion criteria Subject is unwilling to participate in the study - HealthyVolunteers: Accepts Healthy Volunteers - Gender: All - MinimumAge: 8 Years - MaximumAge: 40 Years - StdAgeList: Child, Adult - StudyPopulation: The study population is early-onset DM patients. Subjects will be recruited from outpatient clinics Dr. Cipto Mangunkusumo National General Hospital metabolic and endocrine outpatient clinic and KIARA pediatric endocrine outpatient clinic from September 2022 to April 2024. The study will also recruit healthy controls who fulfill the inclusion criteria. Healthy controls will be recruited from Dr. Cipto Mangunkusumo National General Hospital employees undergoing medical checkups and the general population if target sample size has not been met. The study aims to recruit 1,000 diabetic patients and 1,000 healthy controls. - SamplingMethod: Probability Sample