Skin Microbiome Profile in Hailey-Hailey Disease

"Hailey-Hailey disease is an autosomal dominant disorder caused by a genetic defect in a calcium ATPase (ATP2C1) leading to a defect in keratinocyte adhesion. The characteristic of this disease is the involvement of intertriginous areas of the skin, which are the moist sites including the axillary vault and the inguinal crease. The composition of microbial communities is primarily dependent on the physiology of the skin site and the moist sites have distinct compositions of skin microorganisms. In addition, treatment with doxycycline is often helpful in the management of Hailey-Hailey disease. These findings suggest a role of the skin microbiome in the pathogenesis of Hailey-Hailey disease.

The purpose of this study is to characterize the skin microbiome in patients with Hailey-Hailey disease by the 16S method, to better understand the pathogenesis of the disease and to discover new therapeutic targets in the future.

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Key information

Conditions

Hailey-Hailey Disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn Pemphigus, Benign Familial Skin Diseases Skin Diseases, Genetic Skin Diseases, Vesiculobullous Skin and Connective Tissue Diseases

Age range

19 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

GangnamSeveracne Hospital

Seoul, South Korea

About this study

Investigators will look at patients with Hailey-Hailey disease, and healthy controls.

Investigators will look at skin microbiome (Bacterial diversity and the relative abundance of major bacterial taxa) Investigators will assess this in patients with Hailey-Hailey disease before and after doxycycline and compare them to healthy controls.

Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

Hailey-Hailey disease 1-1. Inclusion Criteria

Clinically diagnosed with Hailey-Hailey as confirmed by histopathology and/or genetic analysis.
>19 years old
Patients who currently have lesions on the axilla and groin
Patietns who signed the consent form and Informed Consent in Human Material Research

Normal control 2-1. Inclusion Criteria

>19 years old
Persions who signed the consent form and Informed Consent in Human Material Research

Exclusion criteria

1-2. Exclusion Criteria

Patients who have used systemic steroids or antibiotics within the last 1 month
Patients who have used local steroids or antibiotics within the last 2 weeks
Patients who have been diagnosed with skin diseases(such as atopic dermatitis) other than Hailey-Hailey disease
Patients who are unable to swab or who may have affect a medical condition
Patients who have difficulty making clear decisions due to lack of decision-making ability
In addition to the above, a person who is considered inappropriate to participate in this study, such as collecting test information, based on the medical judgment of the Principal investigator or Subinvestigator.

2-2. Exclusion Criteria

Persions who have skin diseases(such as atopic dermatitis) or diseases affecting the skin microbes
Persions who have used systemic steroids or antibiotics within the last 1 month
Patients who have used local steroids or antibiotics within the last 2 weeks
In addition to the above, a person who is considered inappropriate to participate in this study, such as collecting test information, based on the medical judgment of the Principal investigator or Subinvestigator.

Treatment and study plan

Doxycycline

Drug

200mg/day for 28 days(Given doxycycline to patients with Hailey-Hailey disease)

Primary outcomes

Shannon diversity index

Time frame: 1 year
- Change in the bacterial diversity index of the skin microbiome in those with and without Hailey-Hailey disease.
- Change in the bacterial diversity index of the skin microbiome before and after the treatment of doxycycline in those with Hailey-Hailey disease
The diversity will be evaluated by assessing the Shannon diversity of the bacterial DNA in the skin microbiome

Secondary outcomes

OTU(Operational Taxonomic Unit)

Time frame: 1 year
- Change in the relative abundance of major bacterial taxa of skin microbiome in those with and without Hailey-Hailey disease
- Change in the relative abundance of major bacterial taxa of skin microbiome before and after the treatment of doxycycline in those with Hailey-Hailey disease
The representative Operational Taxonomic Unit (OTU) sequences were assigned to a taxonomy at a confidence threshold of 50% using remote desktop protocol classifier with reference to the Greengenes database. Relative abundance of OTUs based on all unique sequences was measured.

Sponsors and collaborators

Lead sponsor

Gangnam Severance Hospital

Other

Registry information

Official study title

Characterization and Analysis of the Skin Microbiome in Hailey-Hailey Disease

Important dates

Study start: 2020
Primary completion: 2020
Study completion: 2020
First posted: Aug 16, 2021
Registry last updated: Aug 16, 2021

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Published trials that share one or more normalized conditions with this study.

Completed