HSD3B1 Gene Polymorphisms With Outcomes in SARS-CoV-2 Infected Patients

NCT ID: NCT04516850

Last Updated: 2023-04-25

Basic Information

• Recruitment Status: COMPLETED
• Total Enrollment: 400 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2020-06-08
• Study Completion Date: 2023-02-21

Brief Summary

The study includes 2 sub-projects.

Sub-project 1: The aim is to evaluate the expression of receptors and activating proteases mediating SARS-CoV-2 entry and spreading in the local population of Ticino.

Sub-project 2: The aim is to investigate the association between the HSD3B1 gene variations and outcome of COVID-19 in the local population of Ticino.

Detailed Description

Sub-project 1:

This is an observational retrospective study that aims to evaluate the expression of receptors and activating proteases mediating SARS-CoV-2 entry and spreading in the local population of Ticino. The level of expression of these factors will be compared between infected and non-infected subjects. The sub-project will examine RNA samples from nasopharyngeal swabs taken from subjects tested for COVID-19.

Sub-project 2:

This is a haplotype- and diplotype-based case-control retrospective study that aims to investigate the association between the HSD3B1 gene variations and outcome of COVID-19 in the local population of Ticino. The gene status of HSD3B1 will be defined and compared between two groups of patients: the patients who experienced a severe SARS-CoV-2 infection (severe pulmonary insufficiency, ICU admission, eventually death) and the group with a mild-moderate COVID-19 disease without pulmonary insufficiency and oxygen need.

Conditions

Covid19

Study Design

• Observational Model Type: OTHER
• Study Time Perspective: RETROSPECTIVE

Study Groups

Patients tested for COVID-19

The nasopharyngeal swabs taken from patients tested for Covid-19 who resulted infected and non-infected will be analyzed to evaluate the expression of receptors and activating proteases mediating SARS-CoV-2.

Expression of receptors and activating proteases

Intervention Type: GENETIC

Level of expression of the mRNA of the genes encoding ACE2, TMPRSS2, TMPRSS4 and AR along with reference genes (beta-actin and EPCAM) in nasopharyngeal swabs taken from patients tested for COVID-19

Patients with mild-moderate and severe SARS-CoV-2 infection

Formalin-fixed paraffin will be analysed to determine the association between polymorphism of the HSD3B1 gene and outcomes in COVID-19 affected patients

Polymorphism of the HSD3B1

Intervention Type: GENETIC

Formalin-fixed paraffin embedded tissue blocks will be amplified using polymerase chain reaction (PCR) based experiments followed by direct sequencing (Sanger sequencing)

Interventions

Expression of receptors and activating proteases

Level of expression of the mRNA of the genes encoding ACE2, TMPRSS2, TMPRSS4 and AR along with reference genes (beta-actin and EPCAM) in nasopharyngeal swabs taken from patients tested for COVID-19

Intervention Type: GENETIC

Polymorphism of the HSD3B1

Formalin-fixed paraffin embedded tissue blocks will be amplified using polymerase chain reaction (PCR) based experiments followed by direct sequencing (Sanger sequencing)

Intervention Type: GENETIC

Eligibility Criteria

Inclusion Criteria

• Availability of RNA extracted from nasopharyngeal swabs taken from subjects tested for COVID-19;
• Subject is aged 18 years or over;
• Written informed consent (for SARS-CoV-2 positive patients only; see §5 for further details).

• Female and male hospitalized SARS-CoV-2 patients;
• Patient is aged 18 years or over;
• Availability of archival tissue samples collected at any time before SARS-CoV-2 infection for any clinical reason;
• Clinico-pathological characteristics of the COVID-19 and clinical outcomes recorded in the EOC and Clinica Luganese Moncucco database;
• Written informed consent (see §5 for further details).

Exclusion Criteria

• Documented refusal.

Sub-project 2

• Documented refusal.

• Minimum Eligible Age: 18 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

Institute of Oncology Research (IOR)

UNKNOWN

Sponsor Role: collaborator

Istituto Cantonale di Patologia

OTHER

Sponsor Role: collaborator

Ricardo Pereira Mestre

OTHER

Sponsor Role: lead

Responsible Party

Ricardo Pereira Mestre

MD

Responsibility Role: SPONSOR_INVESTIGATOR

Principal Investigators

Ricardo Pereira Mestre, MD

Role: STUDY_CHAIR

Oncology Institute of Southern Switzerland (IOSI)

Locations

Oncology Institute of Southern Switzerland (IOSI)

Bellinzona, , Switzerland

Clinica Luganese Moncucco

Lugano, , Switzerland

Countries

Switzerland

Other Identifiers

COVID19-GeneExp

Identifier Type: -

Identifier Source: org_study_id