Ensayos clínicos

Inclusion Criteria

Young adults (age 18-35) with any of the following conditions:

• Unexplained hepatic steatosis/steatohepatitis 
  • Definition: NAFLD/NASH noted on imaging or liver biopsy AND no history of obesity (BMI<30) or metabolic syndrome; no history or suspicion of alcohol use; normal ceruloplasmin ± 24-hour urine copper; negative viral hepatitis serologies; no history or suspicion of hypopituitarism (growth hormone deficiency); normal lysosomal acid lipase level; negative urine ethyl glucuronide.
• Cryptogenic cirrhosis
  • Definition: Hepatic fibrosis stage >3-4 on biopsy or MRE/Fibroscan AND negative workup for chronic liver disease; no risk factors for NAFLD; no history of alcohol use; negative urine ethyl glucuronide
• Idiopathic portal hypertension
  • Definition: HVPG >10 mmHg or presence of gastroesophageal varices ± ascites ± splenomegaly/thrombocytopenia AND negative workup for chronic liver disease; fibrosis stage <2 on MRE, Fibroscan or parenchymal liver biopsy; no portal, mesenteric or hepatic vein thrombosis; no history or suspicion for right-sided heart failure or constrictive pericarditis.
• Iron overload (non-HFE) – (age<50)
  • Definition: Persistent (≥6 months) transferrin saturation>50% and elevated ferritin (>300) AND negative HFE for C282Y/C282Y or C282Y/H63D; no history of alcohol use or risk factors for NAFLD; no hepatic steatosis on abdominal imaging or liver biopsy; no history of recent or frequent blood transfusions; no history of hemoglobinopathy (e.g. Thalassemia); no active systemic infections; normal ceruloplasmin level; negative hepatitis serologies
• Unexplained cholestatic liver disease
  • Definition: Persistently or intermittently elevated alkaline phosphatase and/or total bilirubin AND negative anti-mitochondrial antibody; negative MRCP or ERCP for primary sclerosing cholangitis and extrahepatic biliary obstruction; negative liver biopsy for infiltrative liver disease, small-duct PSC or PBC; no suspicion for DILI
• Previous genetic or gene-panel testing, when applicable, does provide a diagnosis, or be a biological family member of such a patient.
• Patient/family member is willing to undergo session(s) with a genomic counselor (GC).
• Patient must understand and provide written informed consent and HIPAA authorization prior to initiation of any study-specific procedures.
• Pregnant women may participate in this research study. Should research results be returned that would have implications

Exclusion Criteria

• Patient who has an uncontrolled concurrent illness including psychiatric illness, or situations that would limit compliance with the study requirements or the ability to willingly give written informed consent, and who does not have a legal guardian who will take responsibility for ensuring compliance with study requirements and can provide consent on his/her behalf.
• Family member participants will not be eligible for research study if the proband/surrogate declines participation.