Clinical trial NCT03804593: HCCBloodTest for Detection of Hepatocellular Carcinoma (HCC)
Official title: HCCBloodTest for Detection of Hepatocellular Carcinoma (HCC): Marker Performance Validation and Technical Development Study
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Cirrhosis, Liver
Hepatic Cirrhosis
Hepatocellular Carcinoma
Liver Cancer
Lead sponsor: Epigenomics, Inc
Sponsor class: INDUSTRY
Collaborators: name: Innovis LLC
First posted: 2019-01-15
Enrollment: 175
Sex: ALL
Minimum age (years): 18
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: CASE_CONTROL
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Eligible subjects will be men and women age 18 years or older. Study will enroll sufficient subjects to yield a minimum of 100 evaluable subjects in Group 1, a minimum of 100 evaluable subjects with de novo HCC and cirrhosis in Group 2 and up to 20 subjects with de novo HCC without cirrhosis in Group 2 - a total of up to 220 evaluable study subjects who meet all inclusion and exclusion criteria for these two groups.

Brief summary: This is a multi-center study to prospectively gather clinically-characterized plasma samples to determine the diagnostic performance characteristics (sensitivity and specificity) of the HCCBloodTest among patients with cirrhosis with and without HCC

Detailed description: Patients with clinically-diagnosed cirrhosis without HCC (Group 1) and patients with early-stage HCC (Group 2) will be invited to participate in this study consisting of one visit for all subjects. At Visit 1, Day 0, after subjects have provided informed consent and HIPAA consent, demographics (age, gender, ethnicity), etiology of liver disease and medical history as well as a list of current medications will be obtained; inclusion and exclusion criteria will be reviewed; and subjects will be registered into the study and will undergo a venipuncture to obtain four (4) lavender top K2 ethylenediaminetetraacetic acid (EDTA) 10 millilitre (mL) tubes of blood.

The HCCBloodTest will be performed on the blood samples collected from study subjects by the Sponsor at its laboratory in Berlin, Germany, to determine the performance characteristics of the HCCBloodTest in the study population.

The HCCBloodTest is an in-vitro polymerase chain reaction (PCR) assay for the qualitative detection of Septin 9 gene methylation (SEPT9) in DNA isolated from 3.5 mL of patient plasma. The SEPT9 gene is a key regulator of cell division and tumor suppressor and the hypermethylation of the assessed marker site is associated with liver carcinogenesis.

Results from the HCCBloodTest will be not be provided to the investigators or study subjects and, therefore, will be not be used in clinical decision-making or impact clinical care of the study participants in any manner.

Eligibility criteria: Inclusion Criteria:

* Men or women age 18 years or older;
* Able to read, understand and sign informed consent to participate in study;
* Willing and able to provide written informed consent;
* Willing and able to meet all study requirements and undergo venipuncture to provide blood samples;
* Child-Pugh Score of A or B.

Group 1:

• Diagnosis of cirrhosis and no HCC confirmed by abdominal contrast-enhanced MRI or CT study performed \< 90 days prior to the date of consent or an MRI performed ≤ 45 days after Visit 1. If lesions are present, a LI-RADS score of LR-1 or LR-2.

Group 2:

• Diagnosis of HCC confirmed by abdominal contrast-enhanced MRI or CT study performed \< 90 days prior to the date of consent or an MRI performed ≤ 45 days after Visit 1 with LI-RADS score of LR-5 and/or biopsy with histopathology.

Exclusion Criteria:

Both Groups:

* Child-Pugh Score of C;
* Subject has undergone a colonoscopy, endoscopy or other invasive diagnostic procedure (other than venipuncture) during the 10 days prior to providing a blood sample for this study;
* Pregnancy;
* Breastfeeding;
* Currently undergoing dialysis;
* Currently receiving investigational treatments of any type;
* History of receiving any drug therapy, surgery or liver transplant for the treatment of HCC;
* Diagnosis of any non-HCC cancer (other than non-melanoma skin cancer) within past 5 years and/or currently undergoing treatment for any cancer;
* Any clinical condition, diagnosis, or social circumstance that, in the opinion of the Investigator, would be mean participation in the study would be contraindicated.

Primary outcomes:
measure: Rate of SEPT9 gene promoter methylation positivity in patients with cirrhosis, based on the HCCBloodTest.
timeFrame: 45 days
Secondary outcomes:
Other outcomes:
Locations:
city: Los Angeles
country: United States
facility: USC Keck Medical Center
state: California
city: Pasadena
country: United States
facility: California Liver Research Institute
state: California
Study officials:
affiliation: Epigenomics, Inc
name: Theo DeVos
role: STUDY_DIRECTOR
affiliation: Epigenomics, Inc
name: Nick Potter
role: STUDY_DIRECTOR
References:
citation: Lewin J, Kottwitz D, Aoyama J, deVos T, Garces J, Hasinger O, Kasielke S, Knaust F, Rathi P, Rausch S, Weiss G, Zipprich A, Mena E, Fong TL. Plasma cell free DNA methylation markers for hepatocellular carcinoma surveillance in patients with cirrhosis: a case control study. BMC Gastroenterol. 2021 Mar 25;21(1):136. doi: 10.1186/s12876-021-01714-8.