Skin Microbiome Profile in Hailey-Hailey Disease

Characterization and Analysis of the Skin Microbiome 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.

Study Overview

• Status: Completed
• Conditions: Hailey-Hailey Disease
• Intervention / Treatment: Drug: Doxycycline

Detailed Description

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.

• Study Type: Observational
• Enrollment (Actual): 18

Contacts and Locations

Study Locations

• Korea, Republic of
  • Seoul, Korea, Republic of
    • GangnamSeveracne Hospital

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 19 years and older (Adult, Older Adult)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• Sampling Method: Non-Probability Sample

Study Population

Patients with Hailey Hailey, diagnosis confirmed by histopathology or genetics at Gangnam Severance Hospital, Dermatology Department

Description

Inclusion Criteria:

1. Hailey-Hailey disease 1-1. Inclusion Criteria

1. Clinically diagnosed with Hailey-Hailey as confirmed by histopathology and/or genetic analysis.
2. >19 years old
3. Patients who currently have lesions on the axilla and groin
4. Patietns who signed the consent form and Informed Consent in Human Material Research

2. Normal control 2-1. Inclusion Criteria

1. >19 years old
2. Persions who signed the consent form and Informed Consent in Human Material Research

Exclusion Criteria:

1-2. Exclusion Criteria

1. Patients who have used systemic steroids or antibiotics within the last 1 month
2. Patients who have used local steroids or antibiotics within the last 2 weeks
3. Patients who have been diagnosed with skin diseases(such as atopic dermatitis) other than Hailey-Hailey disease
4. Patients who are unable to swab or who may have affect a medical condition
5. Patients who have difficulty making clear decisions due to lack of decision-making ability
6. 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

1. Persions who have skin diseases(such as atopic dermatitis) or diseases affecting the skin microbes
2. Persions who have used systemic steroids or antibiotics within the last 1 month
3. Patients who have used local steroids or antibiotics within the last 2 weeks
4. 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.

Study Plan

How is the study designed?

Design Details

• Observational Models: Case-Control
• Time Perspectives: Prospective

Number of groups / cohorts

2

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
1. Experimental: doxycycline; Given doxycycline and assessment of skin	Drug: Doxycycline; 200mg/day for 28 days(Given doxycycline to patients with Hailey-Hailey disease)
2. No Intervention: Healthy Controls; Control subjects to assess if there is baseline difference in the skin microbiome

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Shannon diversity index	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	1 year

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
OTU(Operational Taxonomic Unit)	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.	1 year

Collaborators and Investigators

• Sponsor: Gangnam Severance Hospital
• Investigators: Principal Investigator: Sang Eun Lee, Department of Dermatology, Gangnam Severance Hospital, Yonsei University College of Medicine,

Study record dates

Study Major Dates

• Study Start (Actual): May 8, 2020
• Primary Completion (Actual): September 18, 2020
• Study Completion (Actual): September 18, 2020

Study Registration Dates

• First Submitted: August 5, 2021
• First Submitted That Met QC Criteria: August 10, 2021
• First Posted (Actual): August 16, 2021

Study Record Updates

• Last Update Posted (Actual): August 16, 2021
• Last Update Submitted That Met QC Criteria: August 10, 2021
• Last Verified: August 1, 2021

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Skin Diseases; Genetic Diseases, Inborn; Skin Diseases, Genetic; Skin Diseases, Vesiculobullous; Pemphigus, Benign Familial; Anti-Infective Agents; Anti-Bacterial Agents; Antiprotozoal Agents; Antiparasitic Agents; Antimalarials; Doxycycline
• Other Study ID Numbers: 3-2020-0106

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No