Clinical trial NCT05423327: Genetic Data Collection in Adult Participants to Identify Genetic Variants of Known Importance in Non-alcoholic Steatohepatitis (NASH)
Official title: Cross-Sectional Study to Determine Distribution of Genetic Variants Among Subjects at Risk of, or With Known Non-alcoholic Steatohepatitis (NASH)
Study type: INTERVENTIONAL
Overall status: TERMINATED
Phase: NA
Conditions: Non-alcoholic Steatohepatitis (NASH)
Keywords: Nonalcoholic fatty liver disease (NAFLD)
Lead sponsor: Regeneron Pharmaceuticals
Sponsor class: INDUSTRY
First posted: 2022-06-21
Enrollment: 5311
Sex: ALL
Minimum age (years): 18
Maximum age (years): 75
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Allocation: NA
Intervention model: SINGLE_GROUP
Intervention model description: N/A: No study drug administered
Primary purpose: SCREENING

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


Eligibility 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/ Exclusion Criteria apply

Primary outcomes:
measure: Genotype frequencies of rs72613567 in Hydroxysteroid 17β dehydrogenase 13 (HSD17B13)
timeFrame: Day 1
measure: Genotype frequencies of rs738409 in patatin-like phospholipase domain containing 3 (PNPLA3)
timeFrame: Day 1
Secondary outcomes:
measure: Distribution of fibrosis-4 (FIB-4) scores across participants with different genotypes of rs72613567 in HSD17B13
timeFrame: Day 1
measure: Distribution of FIB-4 scores across participants with different genotypes of rs738409 in PNPLA3B13
timeFrame: Day 1
Other outcomes:
Locations:
city: Coronado
country: United States
facility: Southern California Research Center
state: California
city: Gardena
country: United States
facility: Velocity Clinical Research
state: California
city: La Jolla
country: United States
facility: UCSD Health System
state: California
city: Los Angeles
country: United States
facility: National Research Institute
state: California
city: Orange
country: United States
facility: Clinnova Research Solutions
state: California
city: Panorama City
country: United States
facility: National Research Institute
state: California
city: Redondo Beach
country: United States
facility: FEMZ Clinical Research
state: California
city: Rialto
country: United States
facility: Inland Empire Liver Foundation
state: California
city: San Diego
country: United States
facility: Precision Research Institute, Llc
state: California
city: West Hills
country: United States
facility: San Fernando Valley Health Institute
state: California
city: Doral
country: United States
facility: Integrity Clinical Research, LLC
state: Florida
city: Miami Lakes
country: United States
facility: Floridian Clinical Research
state: Florida
city: Miami
country: United States
facility: Miami Clinical Research
state: Florida
city: Miami
country: United States
facility: Genoma Research Group, Inc.
state: Florida
city: Miami
country: United States
facility: US Associates in Research, LLC
state: Florida
city: Miami
country: United States
facility: Links Clinical Trials
state: Florida
city: Miami
country: United States
facility: Med Research Of Florida, LLC
state: Florida
city: Palmetto Bay
country: United States
facility: IMIC, Inc
state: Florida
city: Palmetto Bay
country: United States
facility: Revival Research
state: Florida
city: Marrero
country: United States
facility: Tandem Clinical Research, LLC
state: Louisiana
city: Baltimore
country: United States
facility: Mercy Medical Center, Inc
state: Maryland
city: Philadelphia
country: United States
facility: University of Pennsylvania - Perelman Center for Advanced Medicine
state: Pennsylvania
city: Friendswood
country: United States
facility: Mt. Olympus Medical Research
state: Texas
city: Houston
country: United States
facility: Mt. Olympus Medical Research
state: Texas
city: Houston
country: United States
facility: Synergy Group US LLC
state: Texas
city: Houston
country: United States
facility: Pioneer Research Solutions, Inc
state: Texas
city: Plano
country: United States
facility: Liver Center of Texas
state: Texas
city: Red Oak
country: United States
facility: Epic Medical Research
state: Texas
city: San Antonio
country: United States
facility: American Research Corporation at The Texas Liver Institute
state: Texas
city: Stafford
country: United States
facility: R & H Clinical Research
state: Texas
city: Curitiba
country: Brazil
facility: Centro de Diabetes de Curitiba Ltda
state: Paraná
city: Porto Alegre
country: Brazil
facility: Hospital de Clínicas de Porto Alegre (HCPA)
state: Rio Grande Do Sul
city: Porto Alegre
country: Brazil
facility: Núcleo de Pesquisa Clínica do Rio Grande do Sul Ltda
state: Rio Grande Do Sul
city: Rio de Janeiro
country: Brazil
facility: IBPClin-Instituto Brasil de Pesquisa Clínica - CCBR
city: São Paulo
country: Brazil
facility: Hospital das Clínicas da Faculdade de Medicina da Universidade de Sao Paulo
city: Dalseo-gu
country: Korea, Republic of
facility: Keimyung University Dongsan Hospital
state: Daegu
city: Seongnam-si
country: Korea, Republic of
facility: Seoul National University College of Medicine, Seoul National University Bundang Hospital
state: Gyeonggi-do
city: Seoul
country: Korea, Republic of
facility: Hanyang University Seoul Hospital
state: Gyeonggi
city: Dongjak-gu
country: Korea, Republic of
facility: Chung-Ang University Hospital
state: Seoul
city: Jongno-gu
country: Korea, Republic of
facility: Seoul National University Hospital
state: Seoul
city: Miguel Hidalgo
country: Mexico
facility: CEDOPEC - Centro Especializado en Diabetes, Obesidad y Prevención de Enfermedades Cardiovasculares, S.C.
state: Ciudad De México
city: Cuautitlán Izcalli
country: Mexico
facility: PCR
state: Estado De México
city: Guadalajara
country: Mexico
facility: Grupo Médico Terranova - Hospital Terranova
state: Jalisco
city: Mérida
country: Mexico
facility: Unidad de Atención Médica e Investigación en Salud (UNAMIS)
state: Yucatán
city: Chihuahua
country: Mexico
facility: Investigación en Salud y Metabolismo S.C / Nutrición Clínica
city: San Juan
country: Puerto Rico
facility: Dr. Federico Rodriguez-Perez MD, Office of
city: San Juan
country: Puerto Rico
facility: Latin Clinical Trial Center
city: San Juan
country: Puerto Rico
facility: VA Caribbean Healthcare System
city: San Juan
country: Puerto Rico
facility: Fundación de Investigación de Diego, Inc.
city: San Juan
country: Puerto Rico
facility: Dr. Paola Mansilla-Letelier MD, Office of
Study officials:
affiliation: Regeneron Pharmaceuticals
name: Clinical Trial Management
role: STUDY_DIRECTOR
References: