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
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|
|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|
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.
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
Tissue samples will be taken by punch biopsy according to the daily routine of the Department of Dermatology of the Maastricht UMC+.
- hSPCA1 expression [ Time Frame: Assessed at time point 0 weeks ]Expression of the hSPCA1 calcium pump in keratinocytes before ablative treatment
- hSPCA1 expression [ Time Frame: Assessed 6 weeks after ablative treatment ]Expression of the hSPCA1 calcium pump in keratinocytes after ablative treatment
- 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.
- 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.
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
|Contact: Valerie Verstraeten, MD PhDfirstname.lastname@example.org|
|Maastricht University Medical Center||Recruiting|
|Maastricht, Limburg, Netherlands, 6202 AZ|
|Contact: Valerie Verstraeten, MD PhD 0031/433877295 email@example.com|
|Principal Investigator:||Valerie Verstraeten, MD PhD||Maastricht University Medical Center|