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

Not Applicable

Terminated

• Conditions: Non-alcoholic Steatohepatitis (NASH)

• Registration Number: NCT05423327
• Lead Sponsor: Regeneron Pharmaceuticals

Brief Summary

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

Detailed Description

Not available

Study Timeline

• Study Start: 2021-12-09
• Study First Submitted: 2022-06-01
• Study First Submitted QC: 2022-06-13
• Study First Posted: 2022-06-21
• Primary Completion: 2022-10-27
• Study Completion: 2022-10-27
• Status Verified: 2023-03
• Last Update Submitted: 2023-03-14
• Last Update Posted: 2023-03-17

Recruitment & Eligibility

• Status: TERMINATED
• Sex: All
• Target Recruitment: 5311

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 & Design

• Study Type: INTERVENTIONAL
• Study Design: SINGLE_GROUP

Primary Outcome Measures

Name	Time	Method
Genotype frequencies of rs738409 in patatin-like phospholipase domain containing 3 (PNPLA3)	Day 1
Genotype frequencies of rs72613567 in Hydroxysteroid 17β dehydrogenase 13 (HSD17B13)	Day 1

Secondary Outcome Measures

Name	Time	Method
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

Trial Locations

Locations (48)

Southern California Research Center; 🇺🇸 Coronado, California, United States

Velocity Clinical Research; 🇺🇸 Gardena, California, United States

UCSD Health System; 🇺🇸 La Jolla, California, United States

National Research Institute; 🇺🇸 Panorama City, California, United States

Clinnova Research Solutions; 🇺🇸 Orange, California, United States

FEMZ Clinical Research; 🇺🇸 Redondo Beach, California, United States

Inland Empire Liver Foundation; 🇺🇸 Rialto, California, United States

Precision Research Institute, Llc; 🇺🇸 San Diego, California, United States

San Fernando Valley Health Institute; 🇺🇸 West Hills, California, United States

Integrity Clinical Research, LLC; 🇺🇸 Doral, Florida, United States

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