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NCT Number: NCT03849989

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

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

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Key information

Conditions

Hailey Hailey Disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn Pemphigus, Benign Familial Skin Diseases Skin Diseases, Genetic Skin Diseases, Vesiculobullous Skin and Connective Tissue Diseases

Age range

18 year and older

Sex eligibility

All sexes

Study type

Interventional

Phase

Not applicable

Primary location

Maastricht University Medical Center

Maastricht, Limburg, 6202 AZ, Netherlands

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

1.Inclusion criteria

1.1.Hailey-Hailey patients

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

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

Treatment and study plan

skin biopsy

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.

Primary outcomes

  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 outcomes

  1. Ultrastructure of the skin before and after ablative treatment by electron microscopy and comparison to clinically uninvolved skin and skin of patients without Hailey-Hailey disease.

    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 and comparison to clinically uninvolved skin and skin of patients without Hailey-Hailey disease.

  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.

Sponsors and collaborators

Lead sponsor

Maastricht University Medical Center

Other

Registry information

Official study title

Expression of hSPCA1 and Ultrastructural Analysis of the Skin Before and After Laser Therapy in Hailey-Hailey Disease

Important dates

Study start
2018
Primary completion
2024
Study completion
2024
First posted
Feb 21, 2019
Registry last updated
Mar 20, 2024

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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