NCT04516850

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

An Exploratory Analysis of the Expression of Receptors and Activating Proteases Mediating SARS-CoV-2 Entry and the Association Between HSD3B1 Gene Polymorphisms With Outcomes in SARS-CoV-2 Infected Patients

• Status: Completed
• Phase: —
• Study type: Observational
• Enrollment: 400 (actual)
• Sponsor: Ricardo Pereira Mestre · Academic / Other
• Sex: All
• Age: 18 Years
• Healthy volunteers: Not accepted

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

Interventions

Type	Name	Description
GENETIC	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
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)

Timeline

• Start date: 2020-06-08
• Primary completion: 2023-02-21
• Completion: 2023-02-21
• First posted: 2020-08-18
• Last updated: 2023-04-25

Locations

2 sites across 1 country: Switzerland