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CompletedNCT04516850Updated Apr 25, 2023

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

An observational study in Covid19, sponsored by Ricardo Pereira Mestre. Completed at 2 sites in Switzerland. Open to participants aged 18 Years and older. Per ClinicalTrials.gov, last updated 2023-04-25.

Sponsored by Ricardo Pereira Mestre · Observational

Study type
Observational
Model
Other
Time perspective
Retrospective
Enrollment
400
Ages
18 Years and older
Sex
All
01

Study 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.

Read the 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.

02

Conditions studied

  • Covid19
03

In context

Lead sponsor

Ricardo Pereira Mestre is the lead sponsor of 2 studies on the registry; none are open to participants now.

Counted across the registry records on this site, refreshed daily.

04

Who can participate

Ages eligible
18 Years and older
Sexes eligible
All
Accepts healthy volunteers
No
Sampling method
Non-probability sample

Study population

Subjects tested for COVID-19

Eligibility 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.
05

Study design

Observational model
Other
Time perspective
Retrospective
Enrollment
400 participants (actual)
Patient registry
No
Biospecimen retention
Samples with dna

Groups and cohorts

  • 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.

    Genetic: Expression of receptors and activating proteases

  • 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

    Genetic: Polymorphism of the HSD3B1

Interventions

  • GeneticExpression 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

  • GeneticPolymorphism 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)

06

What researchers measure

Primary outcomes

  1. Expression of receptors and activating proteases

    Determination of the level of expression of the mRNA genes

    Time frame: 1 year

  2. Prevalencen of olymorphisms of the HSD3B1

    Determination of the prevalence of polymorphisms of the HSD3B1 patients with severe and mild-moderate SARS-CoV-2 infection

    Time frame: 1 year

  3. Association of polymorphisms of the HSD3B1

    Evaluation of the association of polymorphisms of the HSD3B1 with clinico-pathological parameters

    Time frame: 1 year

07

Study locations

2 sites
  • Oncology Institute of Southern Switzerland (IOSI)
    Bellinzona, 6500, Switzerland
  • Clinica Luganese Moncucco
    Lugano, 6900, Switzerland
08

References and documents

Individual participant data

Plan to share: No

No publications or documents are linked to this record.

09

Updates

Tracking since Sep 25, 2026
No changes since tracking began. The registry record was last updated on Apr 25, 2023, before this site started recording changes on Sep 25, 2026. Its history is on ClinicalTrials.gov ↗
10

Registry details

Key details

Study ID
NCT04516850
Lead sponsor
Ricardo Pereira Mestre
Collaborators
Institute of Oncology Research (IOR), Istituto Cantonale di Patologia
Responsible party
Ricardo Pereira Mestre (MD, Oncology Institute of Southern Switzerland) — Sponsor-investigator
First posted
Aug 18, 2020
Start date
Jun 8, 2020
Primary completion
Feb 21, 2023
Completion
Feb 21, 2023
Last update
Apr 25, 2023

Study contacts

Ricardo Pereira Mestre, MD
study chair · Oncology Institute of Southern Switzerland (IOSI)

Oversight

Data monitoring committee
No
FDA-regulated drug
No
FDA-regulated device
No
View the source record on ClinicalTrials.gov ↗

Not currently enrolling

This study is completed, as verified in Apr 2023. You cannot join it, but the record below documents what was studied.

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