Genetic Data Collection in Adult Participants to Identify Genetic Variants of Known Importance in Non-alcoholic Steatohepatitis (NASH)

Cross-Sectional Study to Determine Distribution of Genetic Variants Among Subjects at Risk of, or With Known Non-alcoholic Steatohepatitis (NASH)

Collection of clinical and genetic data to help identify individuals that carry genetic variants of known importance in Non-alcoholic Steatohepatitis (NASH)

Study Overview

• Status: Terminated
• Conditions: Non-alcoholic Steatohepatitis (NASH)
• Intervention / Treatment: Procedure: No Intervention

• Study Type: Interventional
• Enrollment (Actual): 5311
• Phase: Not Applicable

Contacts and Locations

Study Locations

• Brazil
  • Rio de Janeiro, Brazil, 20241-180
    • IBPClin-Instituto Brasil de Pesquisa Clínica - CCBR
  • São Paulo, Brazil, 05403-000
    • Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo
  • Paraná
    • Curitiba, Paraná, Brazil, 80810-120
      • Centro de Diabetes de Curitiba Ltda
  • Rio Grande Do Sul
    • Porto Alegre, Rio Grande Do Sul, Brazil, 90035-903
      • Hospital de Clinicas de Porto Alegre (HCPA)
    • Porto Alegre, Rio Grande Do Sul, Brazil, 90430-001
      • Nucleo de Pesquisa Clinica do Rio Grande do Sul Ltda
• Korea, Republic of
  • Daegu
    • Dalseo-gu, Daegu, Korea, Republic of, 42601
      • Keimyung University Dongsan Hospital
  • Gyeonggi
    • Seoul, Gyeonggi, Korea, Republic of, 04763
      • Hanyang University Seoul Hospital
  • Gyeonggi-do
    • Seongnam-si, Gyeonggi-do, Korea, Republic of, 13620
      • Seoul National University College of Medicine, Seoul National University Bundang Hospital
  • Seoul
    • Dongjak-gu, Seoul, Korea, Republic of, 06973
      • Chung-Ang University Hospital
    • Jongno-gu, Seoul, Korea, Republic of, 03080
      • Seoul National University Hospital
• Mexico
  • Chihuahua, Mexico, 31110
    • Investigación en Salud y Metabolismo S.C / Nutrición Clínica
  • Ciudad De México
    • Miguel Hidalgo, Ciudad De México, Mexico, 11650
      • CEDOPEC - Centro Especializado en Diabetes, Obesidad y Prevención de Enfermedades Cardiovasculares, S.C.
  • Estado De México
    • Cuautitlán Izcalli, Estado De México, Mexico, 54769
      • PCR
  • Jalisco
    • Guadalajara, Jalisco, Mexico, 44670
      • Grupo Médico Terranova - Hospital Terranova
  • Yucatán
    • Mérida, Yucatán, Mexico, 97000
      • Unidad de Atención Médica e Investigación en Salud (Unamis)
• Puerto Rico
  • San Juan, Puerto Rico, 00909
    • Latin Clinical Trial Center
  • San Juan, Puerto Rico, 00921-3201
    • VA Caribbean Healthcare System
  • San Juan, Puerto Rico, 00909
    • Dr. Federico Rodriguez-Perez MD, Office of
  • San Juan, Puerto Rico, 00927
    • Fundación de Investigación de Diego, Inc.
  • San Juan, Puerto Rico, 00969
    • Dr. Paola Mansilla-Letelier MD, Office of
• United States
  • California
    • Coronado, California, United States, 92118
      • Southern California Research Center
    • Gardena, California, United States, 90247
      • Velocity Clinical Research
    • La Jolla, California, United States, 92037-0887
      • UCSD Health System
    • Los Angeles, California, United States, 90057
      • National Research Institute
    • Orange, California, United States, 92868
      • Clinnova Research Solutions
    • Panorama City, California, United States, 91402
      • National Research Institute
    • Redondo Beach, California, United States, 90277
      • FEMZ Clinical Research
    • Rialto, California, United States, 92377
      • Inland Empire Liver Foundation
    • San Diego, California, United States, 91910
      • Precision Research Institute, LLC
    • West Hills, California, United States, 91304
      • San Fernando Valley Health Institute
  • Florida
    • Doral, Florida, United States, 33166
      • Integrity Clinical Research, LLC
    • Miami, Florida, United States, 33155
      • Miami Clinical Research
    • Miami, Florida, United States, 33186
      • Med Research of Florida, LLC
    • Miami, Florida, United States, 33175
      • US Associates in Research, LLC
    • Miami, Florida, United States, 33173
      • Genoma Research Group, Inc.
    • Miami, Florida, United States, 33176
      • Links Clinical Trials
    • Miami Lakes, Florida, United States, 33016
      • Floridian Clinical Research
    • Palmetto Bay, Florida, United States, 33157
      • IMIC, Inc
    • Palmetto Bay, Florida, United States, 33157
      • Revival Research
  • Louisiana
    • Marrero, Louisiana, United States, 70072
      • Tandem Clinical Research, LLC
  • Maryland
    • Baltimore, Maryland, United States, 21202
      • Mercy Medical Center, Inc
  • Pennsylvania
    • Philadelphia, Pennsylvania, United States, 19104
      • University of Pennsylvania - Perelman Center for Advanced Medicine
  • Texas
    • Friendswood, Texas, United States, 77546
      • Mt. Olympus Medical Research
    • Houston, Texas, United States, 77099
      • Pioneer Research Solutions, Inc
    • Houston, Texas, United States, 77030
      • Mt. Olympus Medical Research
    • Houston, Texas, United States, 77036
      • Synergy Group US LLC
    • Plano, Texas, United States, 75026
      • Liver Center of Texas
    • Red Oak, Texas, United States, 75154
      • Epic Medical Research
    • San Antonio, Texas, United States, 78215
      • American Research Corporation at the Texas Liver Institute
    • Stafford, Texas, United States, 77477
      • R & H Clinical Research

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 18 years to 75 years (Adult, Older Adult)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

Description

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/ Exclusion Criteria apply

Study Plan

How is the study designed?

Design Details

• Primary Purpose: Screening
• Allocation: N/A
• Interventional Model: Single Group Assignment
• Masking: None (Open Label)

Number of Arms

1

Arms and Interventions

Participant Group / Arm	Intervention / Treatment
Other: Single Blood Draw	Procedure: No Intervention; Single blood draw

What is the study measuring?

Primary Outcome Measures

Outcome 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 Outcome Measures

Outcome 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

Collaborators and Investigators

• Sponsor: Regeneron Pharmaceuticals

Study record dates

Study Major Dates

• Study Start (Actual): December 9, 2021
• Primary Completion (Actual): October 27, 2022
• Study Completion (Actual): October 27, 2022

Study Registration Dates

• First Submitted: June 1, 2022
• First Submitted That Met QC Criteria: June 13, 2022
• First Posted (Actual): June 21, 2022

Study Record Updates

• Last Update Posted (Actual): March 17, 2023
• Last Update Submitted That Met QC Criteria: March 14, 2023
• Last Verified: March 1, 2023

More Information

Terms related to this study

• Keywords: Nonalcoholic fatty liver disease (NAFLD)
• Additional Relevant MeSH Terms: Digestive System Diseases; Liver Diseases; Fatty Liver; Non-alcoholic Fatty Liver Disease
• Other Study ID Numbers: R0000-NASH-CES-2117

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No