Human Leukocyte Antigen Class II (DRB1 and DQB1) Alleles and Haplotypes Frequencies in Patients With Pemphigus Vulgaris Among the Russian Population

Sponsor

Sechenov University (Other)

Overall Status

Recruiting

CT.gov ID

NCT05284929

Collaborator

Pirogov Russian National Research Medical University (Other)

120

Enrollment

Location

Anticipated Duration (Months)

1.7

Patients Per Site Per Month

Study Details

Study Description

Brief Summary

Pemphigus is a rare autoimmune life-threatening blistering condition affecting skin and mucous membranes. Pemphigus belongs to a family of polygenic disorders. Several different genes encoding molecules regulate pemphigus autoimmunity. Many trials focused on HLA investigation. Increased levels of certain HLA class II alleles frequencies in pemphigus have been reported in various populations. However, they were not investigated in the Russian population.

The aim of our study is to investigate HLA class II alleles and haplotypes in Russian patients with pemphigus.

Methods

Patients and controls

We are recruiting 120 patients with pemphigus. The diagnosis was based on clinical and histopathological findings and confirmed by immunofluorescent techniques (direct and indirect immunofluorescent tests). Before sampling, written consent was obtained from each subject. A single blood sample for HLA typing was obtained from all subjects. This study has been approved by the Ethics Committee of Sechenov University, Russia. Phenotypic and allelic frequencies were compared with healthy blood donors (n=100) registered in Sechenov University blood center.

Condition or Disease	Intervention/Treatment	Phase
Pemphigus Bullous Pemphigoid Stevens-Johnson Syndrome Toxic Epidermal Necrolyses	Genetic: A single blood sample for HLA typing

Study Design

Study Type:

Observational

Anticipated Enrollment :

120 participants

Observational Model:

Case-Control

Time Perspective:

Retrospective

Official Title:

Increased Frequencies of Certain HLA Class II Alleles DRB1 and DQB1 in PV Patients Compared to Those in Healthy Donors Have Been Reported in Various Populations and Repeatedly Confirmed. Among the Russian Population, no Studies About the Association of PV and HLA Class II Genes Have Been Conducted. Thus, the Purpose of This Study Was to Investigate HLA Class II Alleles and Haplotypes in Russian Patients With Pemphigus Vulgaris.

Actual Study Start Date :

May 17, 2017

Anticipated Primary Completion Date :

Nov 17, 2022

Anticipated Study Completion Date :

Mar 17, 2023

Arms and Interventions

Arm	Intervention/Treatment
Patients with pemphigus	Genetic: A single blood sample for HLA typing Extracting of DNA from the blood sample using PCR-reaction
Healthy controls	Genetic: A single blood sample for HLA typing Extracting of DNA from the blood sample using PCR-reaction

Arm

Intervention/Treatment

Patients with pemphigus

Genetic: A single blood sample for HLA typing

Extracting of DNA from the blood sample using PCR-reaction

Healthy controls

Genetic: A single blood sample for HLA typing

Extracting of DNA from the blood sample using PCR-reaction

Outcome Measures

Primary Outcome Measures

Estimation of HLA-DRB1 and HLA-DQB1 alleles frequencies in PV patients and controls [May 2017 - 2023]
The frequencies of HLA alleles will be counted directly from genotyping data, while the frequencies of haplotypes will be estimated with an expectation-maximization algorithm using the ARLEQUIN software package (version 3.11), leading to maximum-likelihood estimates of gene frequencies. To compare the differences between frequencies in the donor and patient groups the Fisher exact test will be performed.

Eligibility Criteria

Criteria

Ages Eligible for Study:

N/A and Older

Sexes Eligible for Study:

All

Accepts Healthy Volunteers:

Yes

Inclusion Criteria:

Signed informed consent
Age of patients >18 years
Confirmed diagnosis

Exclusion Criteria:

No as pemphigus is a life-threatening condition

Contacts and Locations

Locations

	Site	City	State	Country	Postal Code
1	Sechenov University	Moscow		Russian Federation	119991

Sponsors and Collaborators

Sechenov University
Pirogov Russian National Research Medical University

Investigators

None specified.

Study Documents (Full-Text)

None provided.

More Information

Publications

None provided.

Responsible Party:

Sechenov University

ClinicalTrials.gov Identifier:

NCT05284929

Other Study ID Numbers:

#03-22

First Posted:

Mar 17, 2022

Last Update Posted:

Mar 17, 2022

Last Verified:

Mar 1, 2022

Studies a U.S. FDA-regulated Drug Product:

Studies a U.S. FDA-regulated Device Product:

Additional relevant MeSH terms:

Stevens-Johnson Syndrome

Pemphigoid, Bullous

Pemphigus

Study Results

No Results Posted as of Mar 17, 2022