Hailey Hailey DiseaseNCT03849989
M. Hailey-Hailey: hSPCA1 Expression and Skin Structure Upon Laser Therapy
A study testing Skin biopsy in people with Hailey Hailey Disease, run by Maastricht University Medical Center at 1 site in Netherlands.
Trial 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. Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Hailey Hailey Disease
- What is being tested?
- Skin biopsy
- Type of treatment
- Surgery or procedure
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 11 participants
- Where
- 1 siteNetherlands
- Study dates
- 21 Dec 2018to 15 Mar 2024
- Phase
- Interventional
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- All sexes
- No healthy volunteers
- Adult, Older adult
Who may be able to join
- 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
Who cannot join
- <18 years old
- Treatment with tetracyclines, topical hormones or oral retinoids within the last 30 days preceding participation
- Lack of informed consent
Trial locations and contacts
1 site in 1 country.
Netherlands1 site
Maastricht University Medical Center
Maastricht, Limburg, 6202 AZ
About this study
Official title: Expression of hSPCA1 and Ultrastructural Analysis of the Skin Before and After Laser Therapy in Hailey-Hailey Disease
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
- Conditions
- Hailey Hailey Disease
- Being tested
- Skin biopsy
- Medical subject headings
- Pemphigus, Benign Familial
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Skin biopsyProcedure or surgery
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.
| Study group | Role | What they receive |
|---|---|---|
| Hailey-Hailey disease | Experimental | 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
2mm punch biopsy of clinically uninvolved skin of the upper arm for electron microscopy
Patients without Hailey-Hailey disease:
2mm punch biopsy of skin of the upper arm for electron microscopy Receives: Procedure: Skin biopsy |
What is being measured
The primary outcome is the main question the study is designed to answer.
hSPCA1 expression
Expression of the hSPCA1 calcium pump in keratinocytes before ablative treatment
Measured: Assessed at time point 0 weeks
hSPCA1 expression
Expression of the hSPCA1 calcium pump in keratinocytes after ablative treatment
Measured: Assessed 6 weeks after ablative treatment
Secondary outcomes (2)
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.
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.
Measured: At 0 weeks and 6 weeks after ablative therapy
Expression and localization of desmosomal proteins before and after ablative therapy by immunofluorescence.
Expression and localization of desmosomal proteins before and after ablative therapy by immunofluorescence.
Measured: At 0 weeks and 6 weeks after ablative therapy
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted21 Feb 2019
- Study start21 Dec 2018
- Primary completion15 Mar 2024
- Study completion15 Mar 2024
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Hailey Hailey DiseaseStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Basic science
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 11 participants (actual)
Sponsor and investigators
- Lead sponsor
- Maastricht University Medical Center
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Valerie Verstraeten, MD PhD, Principal investigator, Maastricht University Medical Center
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03849989
- Sponsor's protocol ID
- 64815
- Status last verified
- Feb 2019
- First submitted
- 19 Feb 2019
- Last updated
- 20 Mar 2024
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 20 Mar 2024. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Expression of hSPCA1 and Ultrastructural Analysis of the Skin Before and After Laser Therapy in Hailey-Hailey Disease
- ClinicalTrials.gov ID
- NCT03849989
- Acronym / sponsor ID
- 64815
- Conditions
- Hailey Hailey Disease
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 11 participants (actual)
- Lead sponsor
- Maastricht University Medical CenterUniversity, hospital or other
- Study start
- 21 Dec 2018 (actual)
- Primary completion
- 15 Mar 2024 (actual)
- Study completion
- 15 Mar 2024 (actual)
- First posted
- 21 Feb 2019 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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
Study design
- Primary purpose
- Basic science
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Hailey-Hailey disease | Experimental | Procedure: Skin biopsyPatients 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 2mm punch biopsy of clinically uninvolved skin of the upper arm for electron microscopy Patients without Hailey-Hailey disease: 2mm punch biopsy of skin of the upper arm for electron microscopy |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
Key inclusion criteria (8 listed)
- 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
Key exclusion criteria (3 listed)
- <18 years old
- Treatment with tetracyclines, topical hormones or oral retinoids within the last 30 days preceding participation
- Lack of informed consent
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Skin biopsySkin 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. | Procedure or surgery | Hailey-Hailey disease |
Primary outcome
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
2 secondary outcomes
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
Expression and localization of desmosomal proteins before and after ablative therapy by immunofluorescence.
Time frame: At 0 weeks and 6 weeks after ablative therapy
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 20 Mar 2024.
- Hailey-Hailey disease and tight junctions: Claudins 1 and 4 are regulated by ATP2C1 gene encoding Ca(2+) /Mn(2+) ATPase SPCA1 in cultured keratinocytes.Link provided by the sponsor.
- Carbon dioxide laser treatment in Hailey-Hailey disease: a series of 8 patients.Link provided by the sponsor.
- The coexistence of Darier's disease and Hailey-Hailey disease symptoms.Link provided by the sponsor.
- Efficacy of erbium:YAG laser ablation in Darier disease and Hailey-Hailey disease.Link provided by the sponsor.
- Carbon dioxide laser treatment for Hailey-Hailey disease: a retrospective chart review with patient-reported outcomes.Link provided by the sponsor.
- Laser therapy for the treatment of Hailey-Hailey disease: a systematic review with focus on carbon dioxide laser resurfacing.Link provided by the sponsor.
- Individual participant dataSharing planned: No
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RecruitingPhase 2
Efficacy of Guselkumab in Treating Hailey Hailey Disease
Hailey Hailey Disease
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Valerie Verstraeten, MD PhD principal investigator
Maastricht University Medical Center
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Skin biopsy in people with Hailey Hailey Disease, run by Maastricht University Medical Center at 1 site in Netherlands.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 8 inclusion and 3 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 20 Mar 2024. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Netherlands. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
hSPCA1 expression (time frame: Assessed at time point 0 weeks). The study lists 2 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 20 Mar 2024.