Clinical trial NCT03849989: M. Hailey-Hailey: hSPCA1 Expression and Skin Structure Upon Laser Therapy
Official title: Expression of hSPCA1 and Ultrastructural Analysis of the Skin Before and After Laser Therapy in Hailey-Hailey Disease
Study type: INTERVENTIONAL
Overall status: COMPLETED
Phase: NA
Conditions: Hailey Hailey Disease
Lead sponsor: Maastricht University Medical Center
Sponsor class: OTHER
First posted: 2019-02-21
Enrollment: 11
Sex: ALL
Minimum age (years): 18
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Allocation: NA
Intervention model: SINGLE_GROUP
Primary purpose: BASIC_SCIENCE

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


Eligibility criteria: 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

Primary outcomes:
measure: hSPCA1 expression
timeFrame: Assessed at time point 0 weeks
measure: hSPCA1 expression
timeFrame: Assessed 6 weeks after ablative treatment
Secondary outcomes:
measure: 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.
timeFrame: At 0 weeks and 6 weeks after ablative therapy
measure: Expression and localization of desmosomal proteins before and after ablative therapy by immunofluorescence.
timeFrame: At 0 weeks and 6 weeks after ablative therapy
Other outcomes:
Locations:
city: Maastricht
country: Netherlands
facility: Maastricht University Medical Center
state: Limburg
Study officials:
affiliation: Maastricht University Medical Center
name: Valerie Verstraeten, MD PhD
role: PRINCIPAL_INVESTIGATOR
References: