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

Ricardo Pereira Mestre

Status: Completed

Conditions: Covid19

Treatments: Genetic: Expression of receptors and activating proteases; Genetic: Polymorphism of the HSD3B1

Study type: Observational

Funder types: Other

Identifiers

NCT04516850

COVID19-GeneExp

Details and patient eligibility

About

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.

Full 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.

Enrollment: 400 patients

Sex: All

Ages: 18+ years old

Volunteers: No Healthy Volunteers

Inclusion and exclusion criteria

Sub-project 1

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).

Exclusion Criteria:

• Documented refusal.

Sub-project 2

Inclusion Criteria:

• 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.

Trial design

400 participants in 2 patient groups

Patients tested for COVID-19

Description:

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.

Treatment:

Genetic: Expression of receptors and activating proteases

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

Description:

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

Treatment:

Genetic: Polymorphism of the HSD3B1