Non-alcoholic Steatohepatitis (NASH)
Conditions
Keywords
Nonalcoholic fatty liver disease (NAFLD)
Brief summary
Collection of clinical and genetic data to help identify individuals that carry genetic variants of known importance in Non-alcoholic Steatohepatitis (NASH)
Interventions
PROCEDURENo Intervention
Single blood draw
Sponsors
Regeneron Pharmaceuticals
Study design
Allocation
NA
Intervention model
SINGLE_GROUP
Primary purpose
SCREENING
Masking
NONE
Intervention model description
N/A: No study drug administered
Eligibility
Sex/Gender
ALL
Age
18 Years to 75 Years
Healthy volunteers
No
Inclusion criteria
Key Inclusion Criteria: One or more of the following: 1. A prior diagnosis of NASH with a Clinical Research Network (CRN) fibrosis score of F1 to F4 based on liver biopsy 2. Evidence of NAFLD by imaging or liver histology as described in the protocol * The possible imaging modalities to assess historic evidence of NAFLD may be based on thresholds as described in the protocol 3. Known high-risk genotype for HSD17B13 (T/T or T/TA) and/or PNPLA3 (C/G,or G/G) 4. A clinical suspicion of NASH based on presence of 2 or more elements of the metabolic syndrome defined by: 1. Waistline that measures \>35 inches (89 centimeters) for women or \>40 inches (102 centimeters) for men 2. Historic fasting triglycerides \>150 mg/dL within the prior 6 months 3. Historic fasting HDL cholesterol \<40 mg/dL in men or \<50 mg/dL in women, or on cholesterol-lowering medication within the prior 6 months 4. Historic fasting blood glucose \>100 mg/dL or on diabetes medication within the prior 6 months 5. Historic blood pressure \>130/85 mmHg, or on anti-hypertensive medication within the prior 6 months Key
Exclusion criteria
1. Known history or clinical evidence of drug abuse, within the 12 months before screening. Drug abuse is defined as compulsive, repetitive, and/or chronic use of drugs or other substances with problems related to their use and/or where stopping or a reduction in dose will lead to withdrawal symptoms. 2. Excessive alcohol intake for ≥3 months during the past year prior to screening (\>3 units/day for males and \>2 units/day for females is generally considered excessive (unit: 1 glass of wine \[approximately 125 mL\]=1 measure of spirits \[approximately 1 fluid ounce\]=½ pint of beer \[approximately 284 mL\]). 3. History of liver transplant, current placement on a liver transplant list, or Model for End-stage Liver Disease (MELD) score \>12. 4. History of viral and resolved hepatitis or human immunodeficiency virus (HIV). 5. Any malignancy within the past 5 years except for basal cell or squamous epithelial cell carcinoma of the skin, or any carcinoma in situ. Note: Other protocol-defined Inclusion/
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Genotype frequencies of rs72613567 in Hydroxysteroid 17β dehydrogenase 13 (HSD17B13) | Day 1 |
| Genotype frequencies of rs738409 in patatin-like phospholipase domain containing 3 (PNPLA3) | Day 1 |
Secondary
| Measure | Time frame |
|---|---|
| Distribution of fibrosis-4 (FIB-4) scores across participants with different genotypes of rs72613567 in HSD17B13 | Day 1 |
| Distribution of FIB-4 scores across participants with different genotypes of rs738409 in PNPLA3B13 | Day 1 |
Countries
Brazil, Mexico, Puerto Rico, South Korea, United States
Outcome results
None listed