M. Hailey-Hailey: hSPCA1 Expression and Skin Structure Upon Laser Therapy

NCT ID: NCT03849989

Last Updated: 2024-03-20

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Clinical Phase

NA

Total Enrollment

11 participants

Study Classification

INTERVENTIONAL

Study Start Date

2018-12-21

Study Completion Date

2024-03-15

Brief Summary

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Hailey-Hailey disease is a genetic acantholytic dermatosis characterized by continuous erosion of the skin that results in a burning, painful sensation and restricts the patient in daily life. This disorder results from a genetic defect in a calcium pump, i.e. the hSPCA1 pump. Calcium pumps are crucial for the processing of cell-cell adhesion proteins such as E-cadherin, part of desmosomes, the major glue between keratinocytes in skin epidermis. Today therapy is mainly focussed on symptom relief and prevention of secondary infection.

Ablative laser therapy is known to result in a speedy healing of the affected skin site within 2 weeks following laser therapy. The fact that the treated skin site remains clear from this acantholytic disorder in the months/years following ablation, regardless the existence of a germline mutation, suggests that an epigenetic modification occurs in the process of wound healing.

Objective: to (1) study the expression of hSPCA1 in keratinocytes before and after laser therapy and (2) verify the loss of acantholysis by immunohistochemistry and electron microscopy of cell-cell adhesions before and after laser therapy

Detailed Description

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Conditions

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Hailey Hailey Disease

Study Design

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Allocation Method

NA

Intervention Model

SINGLE_GROUP

Primary Study Purpose

BASIC_SCIENCE

Blinding Strategy

NONE

Study Groups

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Hailey-Hailey disease

Patients with Hailey Hailey, diagnosis confirmed by histopathology or genetics, with therapy resistant skin lesions suitable for ablative lasertherapy.

Skin biopsy specimens will be taken before and after lasertherapy at three time points.

Before treatment:

Affected skin 4 mm punch for immunofluorescence and RNA extraction 2 mm for electron microscopy Healthy skin within same anatomical region 4 mm punch for immunofluorescence and RNA extraction

Immediately after treatment of the treated area:

2 mm punch for histopathology

Six weeks after treatment:

Treated skin 4 mm punch for immunofluorescence and RNA extraction 2 mm for electron microscopy

2mm punch biopsy of clinically uninvolved skin of the upper arm for electron microscopy

Patients without Hailey-Hailey disease:

2mm punch biopsy of skin of the upper arm for electron microscopy

Group Type EXPERIMENTAL

Skin biopsy

Intervention Type PROCEDURE

Skin biopsy:

Tissue samples will be taken by punch biopsy according to the daily routine of the Department of Dermatology of the Maastricht UMC+.

Steps:

* Skin desinfection with chlorhexidine digluconate 1% solution
* Local anaesthesia with lidocaine hydrochloride 1%
* Biopsy specimens are taken with sterile punch device (disposable biopsy punch delivered by kai medical)
* Biopsy specimens are retrieved with sterile pincer and cut with sterile blade
* Wound is stitched with a single transcutaneous stich using absorbable suture (vicryl 4.0).
* Wound will be treated with R/ fusidic acid ointment 3 to 5 times per day for two weeks
* In the first week after laser therapy the wound will be covered by R/ Urgotull non-adhesive gauze, R/ Cutisoft cotton non-sterile gauze and R/ Klinipress exsupad absorbing bandage.

Interventions

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Skin biopsy

Skin biopsy:

Tissue samples will be taken by punch biopsy according to the daily routine of the Department of Dermatology of the Maastricht UMC+.

Steps:

* Skin desinfection with chlorhexidine digluconate 1% solution
* Local anaesthesia with lidocaine hydrochloride 1%
* Biopsy specimens are taken with sterile punch device (disposable biopsy punch delivered by kai medical)
* Biopsy specimens are retrieved with sterile pincer and cut with sterile blade
* Wound is stitched with a single transcutaneous stich using absorbable suture (vicryl 4.0).
* Wound will be treated with R/ fusidic acid ointment 3 to 5 times per day for two weeks
* In the first week after laser therapy the wound will be covered by R/ Urgotull non-adhesive gauze, R/ Cutisoft cotton non-sterile gauze and R/ Klinipress exsupad absorbing bandage.

Intervention Type PROCEDURE

Eligibility Criteria

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Inclusion Criteria

1.1.Hailey-Hailey patients


* Clinically diagnosed M. Hailey-Hailey as confirmed by histopathology and/or genetic analysis.
* Indication for ablative laser therapy
* \>18 years old
* Informed consent

1.2. Patients without Hailey-Hailey disease

* \>18 years old
* Clinically no symptoms of M. Hailey-Hailey
* Informed consent

Exclusion Criteria

* \<18 years old
* Treatment with tetracyclines, topical hormones or oral retinoids within the last 30 days preceding participation
* Lack of informed consent
Minimum Eligible Age

18 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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Maastricht University Medical Center

OTHER

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Principal Investigators

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Valerie Verstraeten, MD PhD

Role: PRINCIPAL_INVESTIGATOR

Maastricht University Medical Center

Locations

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Maastricht University Medical Center

Maastricht, Limburg, Netherlands

Site Status

Countries

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Netherlands

Related Links

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https://www.ncbi.nlm.nih.gov/pubmed/22639968

Hailey-Hailey disease and tight junctions: Claudins 1 and 4 are regulated by ATP2C1 gene encoding Ca(2+) /Mn(2+) ATPase SPCA1 in cultured keratinocytes.

https://www.ncbi.nlm.nih.gov/pubmed/23582735

Carbon dioxide laser treatment in Hailey-Hailey disease: a series of 8 patients.

https://www.ncbi.nlm.nih.gov/pubmed/?term=Carbon+dioxide+laser+treatment+for+Hailey-Hailey+disease%3A+a+retrospective+chart+review+with+patient-reported+outcomes.

Carbon dioxide laser treatment for Hailey-Hailey disease: a retrospective chart review with patient-reported outcomes.

https://www.ncbi.nlm.nih.gov/pubmed/?term=Laser+therapy+for+the+treatment+of+Hailey-Hailey+disease%3A+a+systematic+review+with+focus+on+carbon+dioxide+laser+resurfacing.

Laser therapy for the treatment of Hailey-Hailey disease: a systematic review with focus on carbon dioxide laser resurfacing.

Other Identifiers

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64815

Identifier Type: -

Identifier Source: org_study_id

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