Skin Microbiome Profile in Hailey-Hailey Disease

NCT05007223 | Completed

• 1 other identifier: 3-2020-0106
• Study Type: observational
• Target: 18
• Locations: 1 country
• Sites: 1

Brief Summary

"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.

Conditions

Hailey-Hailey Disease

Outcome Measures

Primary Outcomes (1)

• Shannon diversity index

  1. Change in the bacterial diversity index of the skin microbiome in those with and without Hailey-Hailey disease. 2. 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 Outcomes (1)

• OTU(Operational Taxonomic Unit)

  1 year

Study Arms (2)

1. Experimental: doxycycline

Given doxycycline and assessment of skin

Drug: Doxycycline

2. No Intervention: Healthy Controls

Control subjects to assess if there is baseline difference in the skin microbiome

Interventions

Doxycycline DRUG

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

1. Experimental: doxycycline

Eligibility Criteria

• Age: 19 Years+
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

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

You may qualify if:

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

You may not qualify if:

• 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.
• 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.

Sponsors & Collaborators

• Gangnam Severance Hospital: lead

Study Sites (1)

GangnamSeveracne Hospital

Seoul, South Korea

Location

Biospecimen

Retention: SAMPLES WITHOUT DNA

1. Case (HHD) 1) Axillar active lesion 2) Axillar healed lesion 3) Inguinal active lesion 4) Inguinal healed lesion 2. Control (NC) 1) Axillar area 2) Inguinal area

MeSH Terms

Conditions

Pemphigus, Benign Familial

Interventions

Doxycycline

Condition Hierarchy (Ancestors)

Skin Diseases, Genetic; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin Diseases; Skin and Connective Tissue Diseases; Skin Diseases, Vesiculobullous

Intervention Hierarchy (Ancestors)

Tetracyclines; Naphthacenes; Polycyclic Aromatic Hydrocarbons; Hydrocarbons, Aromatic; Hydrocarbons, Cyclic; Hydrocarbons; Organic Chemicals; Polycyclic Compounds

Study Officials

• Sang Eun Lee

  Department of Dermatology, Gangnam Severance Hospital, Yonsei University College of Medicine,

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Assistant professor

Study Record Dates

• First Submitted: August 5, 2021
• First Posted: August 16, 2021
• Study Start: May 8, 2020
• Primary Completion: September 18, 2020
• Study Completion: September 18, 2020
• Last Updated: August 16, 2021

Record last verified: 2021-08

Locations

KR (1)