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

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ClinicalTrials.gov Identifier: NCT04516850

Recruitment Status : Not yet recruiting

First Posted : August 18, 2020

Last Update Posted : August 18, 2020

See Contacts and Locations

Sponsor:

Collaborators:

Institute of Oncology Research (IOR)

Istituto Cantonale di Patologia

Information provided by (Responsible Party):

Ricardo Pereira Mestre, Oncology Institute of Southern Switzerland

Study Description

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.

Condition or disease	Intervention/treatment
Covid19	Genetic: Expression of receptors and activating proteases Genetic: Polymorphism of the HSD3B1

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.

Study Design

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Study Type :	Observational
Estimated Enrollment :	500 participants
Observational Model:	Other
Time Perspective:	Retrospective
Official Title:	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
Estimated Study Start Date :	September 1, 2020
Estimated Primary Completion Date :	August 31, 2021
Estimated Study Completion Date :	August 31, 2021

Resource links provided by the National Library of Medicine

MedlinePlus related topics: COVID-19 (Coronavirus Disease 2019) Genes and Gene Therapy

U.S. FDA Resources

Groups and Cohorts

Group/Cohort	Intervention/treatment
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 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	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)

Outcome Measures

Primary Outcome Measures :

Expression of receptors and activating proteases [ Time Frame: 1 year ]
Determination of the level of expression of the mRNA genes
Prevalencen of olymorphisms of the HSD3B1 [ Time Frame: 1 year ]
Determination of the prevalence of polymorphisms of the HSD3B1 patients with severe and mild-moderate SARS-CoV-2 infection
Association of polymorphisms of the HSD3B1 [ Time Frame: 1 year ]
Evaluation of the association of polymorphisms of the HSD3B1 with clinico-pathological parameters

Biospecimen Retention: Samples With DNA

Sub-project 1: nasopharyngeal swabs

Sub-project 2: tissue samples

Eligibility Criteria

Information from the National Library of Medicine

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Ages Eligible for Study:	18 Years and older (Adult, Older Adult)
Sexes Eligible for Study:	All
Accepts Healthy Volunteers:	No
Sampling Method:	Non-Probability Sample

Study Population

Subjects tested for COVID-19

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.

Contacts and Locations

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT04516850

Contacts

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Contact: Ricardo Pereira Mestre, MD	+41 (0)91 811 8446	ricardo.pereiramestre@eoc.ch

Locations

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Switzerland
Oncology Institute of Southern Switzerland (IOSI)
Bellinzona, Switzerland, 6500
Contact: Ricardo Pereira Mestre, MD +41 (0)91 811 8446 ricardo.pereiramestre@eoc.ch
Clinica Luganese Moncucco
Lugano, Switzerland, 6900
Contact: Christian Garzoni, MD 41 (0)91 960 87 12 christian.garzoni@moncucco.ch

Sponsors and Collaborators

Ricardo Pereira Mestre

Institute of Oncology Research (IOR)

Istituto Cantonale di Patologia

Investigators

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Study Chair:	Ricardo Pereira Mestre, MD	Oncology Institute of Southern Switzerland (IOSI)

More Information

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Responsible Party:	Ricardo Pereira Mestre, MD, Oncology Institute of Southern Switzerland
ClinicalTrials.gov Identifier:	NCT04516850
Other Study ID Numbers:	COVID19-GeneExp
First Posted:	August 18, 2020 Key Record Dates
Last Update Posted:	August 18, 2020
Last Verified:	August 2020
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD:	No

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Studies a U.S. FDA-regulated Drug Product:	No
Studies a U.S. FDA-regulated Device Product:	No

Additional relevant MeSH terms:

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COVID-19 Respiratory Tract Infections Infections Pneumonia, Viral Pneumonia Virus Diseases	Coronavirus Infections Coronaviridae Infections Nidovirales Infections RNA Virus Infections Lung Diseases Respiratory Tract Diseases

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