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

Non-alcoholic Steatohepatitis (NASH) Clinical Trial

Official title:

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

Clinical Trial Details — Status: Terminated

Administrative data

• NCT number: NCT05423327
• Other study ID #: R0000-NASH-CES-2117
• Status: Terminated
• Phase: N/A
• Start date: December 9, 2021
• Est. completion date: October 27, 2022

Study information

• Verified date: March 2023
• Source: Regeneron Pharmaceuticals
• Contact: n/a
• Is FDA regulated: No
• Study type: Interventional

Clinical Trial Summary

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

Recruitment information / eligibility

• Status: Terminated
• Enrollment: 5311
• Est. completion date: October 27, 2022
• Est. primary completion date: October 27, 2022
• Accepts healthy volunteers: No
• Gender: All
• Age group: 18 Years to 75 Years

Eligibility

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

Related Conditions & MeSH terms

• Fatty Liver
• Non-alcoholic Fatty Liver Disease
• Non-alcoholic Steatohepatitis (NASH)

Intervention

Procedure:
• No Intervention
Single blood draw

Locations

Country	Name	City	State
Brazil	Centro de Diabetes de Curitiba Ltda	Curitiba	Paraná
Brazil	Hospital de Clínicas de Porto Alegre (HCPA)	Porto Alegre	Rio Grande Do Sul
Brazil	Núcleo de Pesquisa Clínica do Rio Grande do Sul Ltda	Porto Alegre	Rio Grande Do Sul
Brazil	IBPClin-Instituto Brasil de Pesquisa Clínica - CCBR	Rio de Janeiro
Brazil	Hospital das Clínicas da Faculdade de Medicina da Universidade de Sao Paulo	São Paulo
Korea, Republic of	Keimyung University Dongsan Hospital	Dalseo-gu	Daegu
Korea, Republic of	Chung-Ang University Hospital	Dongjak-gu	Seoul
Korea, Republic of	Seoul National University Hospital	Jongno-gu	Seoul
Korea, Republic of	Seoul National University College of Medicine, Seoul National University Bundang Hospital	Seongnam-si	Gyeonggi-do
Korea, Republic of	Hanyang University Seoul Hospital	Seoul	Gyeonggi
Mexico	Investigación en Salud y Metabolismo S.C / Nutrición Clínica	Chihuahua
Mexico	PCR	Cuautitlán Izcalli	Estado De México
Mexico	Grupo Médico Terranova - Hospital Terranova	Guadalajara	Jalisco
Mexico	Unidad de Atención Médica e Investigación en Salud (UNAMIS)	Mérida	Yucatán
Mexico	CEDOPEC - Centro Especializado en Diabetes, Obesidad y Prevención de Enfermedades Cardiovasculares, S.C.	Miguel Hidalgo	Ciudad De México
Puerto Rico	Dr. Federico Rodriguez-Perez MD, Office of	San Juan
Puerto Rico	Dr. Paola Mansilla-Letelier MD, Office of	San Juan
Puerto Rico	Fundación de Investigación de Diego, Inc.	San Juan
Puerto Rico	Latin Clinical Trial Center	San Juan
Puerto Rico	VA Caribbean Healthcare System	San Juan
United States	Mercy Medical Center, Inc	Baltimore	Maryland
United States	Southern California Research Center	Coronado	California
United States	Integrity Clinical Research, LLC	Doral	Florida
United States	Mt. Olympus Medical Research	Friendswood	Texas
United States	Velocity Clinical Research	Gardena	California
United States	Mt. Olympus Medical Research	Houston	Texas
United States	Pioneer Research Solutions, Inc	Houston	Texas
United States	Synergy Group US LLC	Houston	Texas
United States	UCSD Health System	La Jolla	California
United States	National Research Institute	Los Angeles	California
United States	Tandem Clinical Research, LLC	Marrero	Louisiana
United States	Genoma Research Group, Inc.	Miami	Florida
United States	Links Clinical Trials	Miami	Florida
United States	Med Research Of Florida, LLC	Miami	Florida
United States	Miami Clinical Research	Miami	Florida
United States	US Associates in Research, LLC	Miami	Florida
United States	Floridian Clinical Research	Miami Lakes	Florida
United States	Clinnova Research Solutions	Orange	California
United States	IMIC, Inc	Palmetto Bay	Florida
United States	Revival Research	Palmetto Bay	Florida
United States	National Research Institute	Panorama City	California
United States	University of Pennsylvania - Perelman Center for Advanced Medicine	Philadelphia	Pennsylvania
United States	Liver Center of Texas	Plano	Texas
United States	Epic Medical Research	Red Oak	Texas
United States	FEMZ Clinical Research	Redondo Beach	California
United States	Inland Empire Liver Foundation	Rialto	California
United States	American Research Corporation at The Texas Liver Institute	San Antonio	Texas
United States	Precision Research Institute, Llc	San Diego	California
United States	R & H Clinical Research	Stafford	Texas
United States	San Fernando Valley Health Institute	West Hills	California

Sponsors (1)

Lead Sponsor	Collaborator
Regeneron Pharmaceuticals

Countries where clinical trial is conducted

United States,  Brazil,  Korea, Republic of,  Mexico,  Puerto Rico, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Genotype frequencies of rs72613567 in Hydroxysteroid 17ß dehydrogenase 13 (HSD17B13)		Day 1
Primary	Genotype frequencies of rs738409 in patatin-like phospholipase domain containing 3 (PNPLA3)		Day 1
Secondary	Distribution of fibrosis-4 (FIB-4) scores across participants with different genotypes of rs72613567 in HSD17B13		Day 1
Secondary	Distribution of FIB-4 scores across participants with different genotypes of rs738409 in PNPLA3B13		Day 1