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

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ClinicalTrials.gov Identifier: NCT03849989
Recruitment Status : Recruiting
First Posted : February 21, 2019
Last Update Posted : February 21, 2019
Sponsor:
Information provided by (Responsible Party):
Maastricht University Medical Center

Brief Summary:

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


Condition or disease Intervention/treatment Phase
Hailey Hailey Disease Procedure: Skin biopsy Not Applicable

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Study Type : Interventional  (Clinical Trial)
Estimated Enrollment : 10 participants
Intervention Model: Single Group Assignment
Masking: None (Open Label)
Primary Purpose: Basic Science
Official Title: Expression of hSPCA1 and Ultrastructural Analysis of the Skin Before and After Laser Therapy in Hailey-Hailey Disease
Actual Study Start Date : December 21, 2018
Estimated Primary Completion Date : June 19, 2020
Estimated Study Completion Date : June 19, 2020

Resource links provided by the National Library of Medicine

MedlinePlus related topics: Biopsy Pemphigus

Arm Intervention/treatment
Experimental: Hailey Hailey

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

Procedure: 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.




Primary Outcome Measures :
  1. hSPCA1 expression [ Time Frame: Assessed at time point 0 weeks ]
    Expression of the hSPCA1 calcium pump in keratinocytes before ablative treatment

  2. hSPCA1 expression [ Time Frame: Assessed 6 weeks after ablative treatment ]
    Expression of the hSPCA1 calcium pump in keratinocytes after ablative treatment


Secondary Outcome Measures :
  1. Ultrastructure of the skin before and after ablative treatment by electron microscopy. [ Time Frame: At 0 weeks and 6 weeks after ablative therapy ]
    Cell-to-cell adhesion and desmosome ultrastructure before and after ablative treatment by electron microscopy.

  2. Expression and localization of desmosomal proteins before and after ablative therapy by immunofluorescence. [ Time Frame: At 0 weeks and 6 weeks after ablative therapy ]
    Expression and localization of desmosomal proteins before and after ablative therapy by immunofluorescence.



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Ages Eligible for Study:   18 Years and older   (Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Criteria

Inclusion Criteria:

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

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): NCT03849989


Contacts
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Contact: Valerie Verstraeten, MD PhD 0031/433877295 valerie.verstraeten@mumc.nl

Locations
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Netherlands
Maastricht University Medical Center Recruiting
Maastricht, Limburg, Netherlands, 6202 AZ
Contact: Valerie Verstraeten, MD PhD    0031/433877295    valerie.verstraeten@mumc.nl   
Sponsors and Collaborators
Maastricht University Medical Center
Investigators
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Principal Investigator: Valerie Verstraeten, MD PhD Maastricht University Medical Center

Additional Information:
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Responsible Party: Maastricht University Medical Center
ClinicalTrials.gov Identifier: NCT03849989     History of Changes
Other Study ID Numbers: 64815
First Posted: February 21, 2019    Key Record Dates
Last Update Posted: February 21, 2019
Last Verified: February 2019
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No

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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