SNPMiner Trials by Shray Alag


SNPMiner Trials: Clinical Trial Report


Report for Clinical Trial NCT03282305

Developed by Shray Alag, 2019.
SNP Clinical Trial Gene

Prospective Cohort Assessing the Prevalence and Progress of Non-alcoholic Fatty Liver Disease (NAFLD)/Non-alcoholic Steatohepatitis (NASH) in Chinese

Nonalcoholic fatty liver disease (NAFLD) is a progressive liver disease ranging from simple steatosis to cirrhosis of the liver. Nonalcoholic fatty liver (NAFL) without substantial hepatocellular injury is thought to be relatively benign whereas nonalcoholic steatohepatitis (NASH) is characterized by hepatocyte steatosis, ballooning, inflammation and varying degrees of fibrosis from none to cirrhosis. NASH is strongly associated with insulin resistance and metabolic syndrome and thus is recognized as a major public health concern as the most prevalent liver disease. Liver biopsy is the gold standard for a diagnosis of NASH. However, given the large population of patients at risk for NASH, liver biopsy is not a practical method for determining which patients may benefit from NASH therapy. Non-invasive methods to estimate inflammation and fibrosis are in clinical use, but there remains a dichotomy between gold standard inclusion criteria and end points that are utilized in clinical trials and real world diagnostic methods that are more common in clinical practice. Thus, the investigators would like to conduct an observational study to head-to-head compare the non-invasive methods and liver biopsy in differential liver steatosis and liver biopsy in a real-world setting. Also, by following up patients for a relatively long time (proposed 10 years), the investigators can present the natural history of disease progression.

NCT03282305 Nonalcoholic Fatty Liver Nonalcoholic Steatohepatitis
MeSH: Fatty Liver Non-alcoholic Fatty Liver Disease
HPO: Hepatic steatosis


Primary Outcomes

Description: The change in NASH Clinical Research Network (CRN) score based on liver biopsy

Measure: Histological endpoint

Time: 10 years

Secondary Outcomes

Description: Number of all-cause death

Measure: Number of all-cause death

Time: 10 years

Description: Number of liver-related death

Measure: Number of liver-related death

Time: 10 years

Description: Number of liver transplant

Measure: Number of liver transplant

Time: 10 years

Description: Number of hepatocellular carcinoma (HCC)

Measure: Number of hepatocellular carcinoma (HCC)

Time: 10 years

Time Perspective: Prospective

Cohort


There is one SNP

SNPs


1 C282Y

Exclusion Criteria: - Unable to provide written informed consent (or assent in pediatric subjects) - Alcohol consumption greater than 21 units/week for males or 14 units/week for females (one unit of alcohol is half pint of beer [285 mL; 9.64 oz], 1 glass of spirits [25 mL; 0.85 oz] or 1 glass of wine [125 mL; 4.23 oz] - Enrolled in NASH-related clinical trials - Presence of other forms of chronic liver disease: 1. Chronic hepatitis B (HBsAg positive) 2. Chronic hepatitis C (HCV RNA positive) 3. Iron overload disorders (3-4+ iron on liver biopsy or known hemochromatosis gene (HFE) C282Y homozygous with ferritin > 200 ng/ml; note: an elevated ferritin alone is common in NASH and is not exclusionary) 4. Autoimmune liver disease (biopsy evidence or clinical diagnosis of autoimmune hepatitis or Primary biliary cholangitis (PBC) requiring ongoing treatment, imaging evidence of Primary sclerosing cholangitis (PSC)) 5. Wilson's disease 6. Alpha-1 antitrypsin mutations that in the opinion of the principal investigator is contributing to the patient's liver disease; - Prior bariatric surgery unless the surgery was performed more than one year before the biopsy diagnosis of NASH (i.e., NASH is present despite prior bariatric surgery); - Planned bariatric surgery (e.g. --- C282Y ---



HPO Nodes


HPO:
Hepatic steatosis
Genes 102
GABRD GPD1 HFE MPV17 LDLRAP1 TRAPPC11 HNF1B PNPLA2 ATP6AP1 ATP7B ZMPSTE24 ACADL ACADM ACADVL EARS2 LYRM4 DNAJC19 CYP7A1 MARS IARS ACAD9 POLD1 FOS ACOX1 RRM2B CYP19A1 POLG MRPL44 VPS33A AGPAT2 ETFA ETFB TMEM199 ETFDH LARS KCNAB2 FARSB COX15 APOB LMNB2 CAV1 MCCC1 APOE PPARG CPT1A XRCC4 TARS2 CPT2 SKI NSMCE2 TYMP HNF4A BCS1L HNRNPA1 CBS TFAM HNRNPA2B1 LDLR SLC40A1 COA8 DDOST PGM1 POLR3A ADK TRMU MRPS7 LRPPRC LIPA LIPE ABHD5 FBP1 NDUFAF1 LMNA ALMS1 CLPB COG6 DGUOK CIDEC SLC25A13 SAR1B SLC22A5 AKT2 CAVIN1 BSCL2 HADHA HADHB RERE HADH RMND1 HSD17B4 PLIN1 CARS2 ALDOB PRDM16 ABCG5 PCK1 ABCG8 PCK2 VCP PCSK9 CEP19 PMM2