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Skin Microbiome Profile in Hailey-Hailey Disease

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ClinicalTrials.gov Identifier: NCT05007223
Recruitment Status : Completed
First Posted : August 16, 2021
Last Update Posted : August 16, 2021
Sponsor:
Information provided by (Responsible Party):
Sang Eun Lee, Gangnam Severance Hospital

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.


Condition or disease Intervention/treatment
Hailey-Hailey Disease 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.

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Study Type : Observational
Actual Enrollment : 18 participants
Observational Model: Case-Control
Time Perspective: Prospective
Official Title: Characterization and Analysis of the Skin Microbiome in Hailey-Hailey Disease
Actual Study Start Date : May 8, 2020
Actual Primary Completion Date : September 18, 2020
Actual Study Completion Date : September 18, 2020


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



Primary Outcome Measures :
  1. Shannon diversity index [ Time Frame: 1 year ]
    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



Secondary Outcome Measures :
  1. OTU(Operational Taxonomic Unit) [ Time Frame: 1 year ]
    1. Change in the relative abundance of major bacterial taxa of skin microbiome in those with and without Hailey-Hailey disease
    2. 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.



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


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Ages Eligible for Study:   19 Years and older   (Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population
Patients with Hailey Hailey, diagnosis confirmed by histopathology or genetics at Gangnam Severance Hospital, Dermatology Department
Criteria

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.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT05007223


Locations
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Korea, Republic of
GangnamSeveracne Hospital
Seoul, Korea, Republic of
Sponsors and Collaborators
Gangnam Severance Hospital
Investigators
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Principal Investigator: Sang Eun Lee Department of Dermatology, Gangnam Severance Hospital, Yonsei University College of Medicine,
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Responsible Party: Sang Eun Lee, Assistant professor, Gangnam Severance Hospital
ClinicalTrials.gov Identifier: NCT05007223    
Other Study ID Numbers: 3-2020-0106
First Posted: August 16, 2021    Key Record Dates
Last Update Posted: August 16, 2021
Last Verified: August 2021

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Additional relevant MeSH terms:
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Pemphigus, Benign Familial
Skin Diseases, Genetic
Genetic Diseases, Inborn
Skin Diseases
Skin Diseases, Vesiculobullous
Doxycycline
Anti-Bacterial Agents
Anti-Infective Agents
Antimalarials
Antiprotozoal Agents
Antiparasitic Agents