We aim 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.
ID
Source
Brief title
Condition
- Skin and subcutaneous tissue disorders congenital
Synonym
Research involving
Sponsors and support
Intervention
Outcome measures
Primary outcome
Expression of the hSPCA1 calcium pump in keratinocytes before and after
ablative treatment.
Secondary outcome
- Ultrastructure of the skin before and after ablative treatment.
- Expression and localization of desmosomal proteins before and after ablative
therapy.
- Comparison of electron microscopy findings with those in subjects without M.
Hailey-Hailey.
Background summary
Hailey-Hailey disease is a genetic acantholytic dermatosis caused by a genetic
defect in the hSPCA1 calcium pump. Calcium pumps are crucial for the processing
of cell-cell adhesion proteins. Loss of function results in painful and burning
erosion of the skin. Therapy has been mainly focused on symptom relief and
prevention of secondary infection. However, following ablative laser therapy in
the MUMC+ the skin remains clear form erosion in the months/years after
treatment, regardless the existence of a germline mutation, suggesting that an
epigenetic modification occurs in the process of wound healing.
Study objective
We aim 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.
Study design
Observational study with invasive measurements.
Study burden and risks
Participation does not require additional hospital visits and will take 30 min
extra time. There is a limited risk of post interventional bleeding and
secondary infection, which can be reduced by a single transcutaneous suture
using a self-absorbing suture (vicryl 4.0).
AMENDMENT:
As for subjects without M. Hailey Hailey, the present study will be discussed
at the end of a regular visit to the department of dermatology. Herefafter,
patients will receive the patient information form and the informed consent
form. After consent, at the next regular visit on our outpatient clinic, a 2mm
skin biopsy for electron microscopy will be taken.
P. Debyelaan 25
Maastricht 6202 AZ
NL
P. Debyelaan 25
Maastricht 6202 AZ
NL
Listed location countries
Age
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 or oral retinoids within the last 30 days
preceding participation
- Lack of informed consent
Design
Recruitment
Followed up by the following (possibly more current) registration
No registrations found.
Other (possibly less up-to-date) registrations in this register
No registrations found.
In other registers
| Register | ID |
|---|---|
| ClinicalTrials.gov | NCT03849989 |
| CCMO | NL64815.068.18 |