protocolSection identificationModule nctId: NCT06289387, orgStudyIdInfo id: MMDEF001, briefTitle: Combining Gene Variants to Improve Risk Prediction for Metabolic (Dysfunction)- Associated Fatty Liver Disease and Its Progression to Cirrhosis in Indian Individuals With Type 2 Diabetes, statusModule overallStatus: RECRUITING, startDateStruct date: 2024-01-20, primaryCompletionDateStruct date: 2025-01-01, completionDateStruct date: 2025-01-10, studyFirstPostDateStruct date: 2024-03-01, lastUpdatePostDateStruct date: 2024-03-05, sponsorCollaboratorsModule leadSponsor name: Medanta, The Medicity, India, class: OTHER, descriptionModule briefSummary: Type 2 diabetes and metabolic (dysfunction)-associated fatty liver disease (MAFLD) often exist together. The prevalence of MAFLD is about 15-30% in healthy people and around 60-70% in people with type 2 diabetes. Moreover, type 2 diabetes accelerates the progression of liver disease in MAFLD.MAFLD is a spectrum of liver conditions, ranging from simple fatty liver (low risk for progression), progressing to steatohepatitis (MASH) with no or mild fibrosis, advanced liver fibrosis, cirrhosis, and hepatocellular carcinoma. Although diabetes is the strongest predictor of advanced fibrosis in MAFLD, however, only a small proportion of people with type 2 diabetes and MAFLD (about 5-7%) develop a clinically significant liver disease, but the burden of MAFLD is such that even a small proportion of patients developing cirrhosis will lead to a huge strain on the health care system in India. MAFLD is predicted to be the leading indication for liver transplantation in coming years. At present, MAFLD/MASH is the second most common indication for liver transplantation in the USA as well as in India.The question is why around 5-7% patients amongst MAFLD population develop fibrosis and cirrhosis. A growing body of evidence suggest that the disease develops because of a complex process in which several factors, including genetic susceptibility and environmental insults, are involved. There are several gene variants that have been incriminated in the development and progression of MAFLD. The most common genes associated with MAFLD are PNPLA3, TM6SF2, GCKR, and MBOAT7. The loss-of-function gene variant HSD17B13 seems to protect from NAFLD. There are a few studies from India about the role of PNPLA3 and TM6SF2 in MAFLD. However, these studies used USG for the diagnosis of MAFLD, which does not provide any information regarding fibrosis of the liver. The data regarding other three genetic variants are scarce from Indian individuals., conditionsModule conditions: Type2diabetes, designModule studyType: OBSERVATIONAL, designInfo observationalModel: ECOLOGIC_OR_COMMUNITY, timePerspective: CROSS_SECTIONAL, enrollmentInfo count: 1000, type: ESTIMATED, armsInterventionsModule, outcomesModule primaryOutcomes measure: Role of the PNPLA3, TM6SF2, GCKR, MBOAT7 and HSD17B13 genetic variants in the development and progression of MASLD., secondaryOutcomes measure: Correlation between body fat percentage (DEXA-measured) and the genetic variants, secondaryOutcomes measure: Correlation between lean body mass (as measured by DEXA) and the genetic variants, secondaryOutcomes measure: Correlation between bone mineral content (DEXA-measured) and the genetic variants, secondaryOutcomes measure: Correlation between fibrosis-4 score (FIB-4) and the genetic variants, secondaryOutcomes measure: Correlation between MASLD fibrosis score (NFS) and the genetic variants, secondaryOutcomes measure: Correlation between serum creatinine levels (eGFR) and the genetic variants, eligibilityModule sex: ALL, minimumAge: 30 Years, maximumAge: 70 Years, stdAges: ADULT, stdAges: OLDER_ADULT, contactsLocationsModule locations facility: Medanta Division of Endocrinology & Diabetes, status: RECRUITING, city: Gurgaon, state: Haryana, zip: 122001, country: India, contacts name: Surender, PhD, role: CONTACT, phone: 0124141414, phoneExt: 6596, email: yadavsurender89@gmail.com, geoPoint lat: 28.4601, lon: 77.02635, hasResults: False