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

• Conditions: Toxic Epidermal Necrolyses; Bullous Pemphigoid; Stevens-Johnson Syndrome; Pemphigus

• Registration Number: NCT05284929
• Lead Sponsor: Sechenov University

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.

Detailed Description

Not available

Study Timeline

• Study Start: 2017-05-17
• Status Verified: 2022-03
• Study First Submitted: 2022-03-10
• Study First Submitted QC: 2022-03-10
• Last Update Submitted: 2022-03-10
• Study First Posted: 2022-03-17
• Last Update Posted: 2022-03-17
• Primary Completion: 2022-11-17
• Study Completion: 2023-03-17

Recruitment & Eligibility

• Status: UNKNOWN
• Sex: All
• Target Recruitment: 120

Inclusion Criteria

• Signed informed consent
• Age of patients >18 years
• Confirmed diagnosis

Exclusion Criteria

• No as pemphigus is a life-threatening condition

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
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.

Trial Locations

Locations (1)

Sechenov University; 🇷🇺 Moscow, Russian Federation