Hailey-Hailey DiseasePhase 1ToxHDNCT02782702
Evaluation of the Improvement of Quality of Life of Patients Suffering From Hailey Hailey or Darier Disease After Injections of Botulism Toxin Into Large Folds.
A Phase 1 study testing Botulism Toxin Treatment in people with Hailey-Hailey Disease and Darier Disease, run by University Hospital, Toulouse at 1 site in France.
Trial summary
Hailey Hailey and Darier disease are rare genetic dermatoses. Mutations of 2 genes (ATP2C1 or ATP2A2 respectively) are responsible for the diseases. These genes have a key role in calcium pump; their defect create abnormal link between keratinocytes' desmosomes and induce skin lesions. Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Hailey-Hailey Disease, Darier Disease
- What is being tested?
- Botulism Toxin Treatment
- Type of treatment
- Injection or infusion
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 30 participants
- Where
- 1 siteFrance
- Study dates
- Sep 2015to Nov 2017
- Phase
- Phase 1
- 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
- Confirmed diagnosis (clinical and histological features) of Hailey Hailey or Darier diseases.
- Moderate to very severe lesions located in large folds
- Patient aged 18 ans or more
- Patient with health coverage
- Patient who have signed the consent form
- Patient proficient into filling out the questionnaires.
Who cannot join
- Hypersensibility to toxin or excipients
- Myastheny
- Deglutition's problems
- Past medical history of dysphagia or aspiration pneumonia
- Pregnancy (positive B-HCG test performed a maxima 72h before) or breastfeeding
- Mental , physical incapacity to fill in the questionnaires
Show all 10Show fewer
- Guardianship patients
- Skin infections at the inclusion visit
- Application in the last 7 days at the site of injection of local treatments (apart emollients or antiseptics) or injections of botulism toxin or dynamic phototherapy or laser in the last 6 months.
- Systemic treatment with aminosides in the last 15 days
Trial locations and contacts
1 site in 1 country.
About this study
Official title: Evaluation of the Improvement of Quality of Life of Patients Suffering From Hailey Hailey or Darier Disease After Injections of Botulism Toxin Into Large Folds. Toxin Hailey Darier
Hailey Hailey and Darier disease are rare genetic dermatoses. Mutations of 2 genes (ATP2C1 or ATP2A2 respectively) are responsible for the diseases. These genes have a key role in calcium pump; their defect create abnormal link between keratinocytes' desmosomes and induce skin lesions. Clinically, patients present with inflammatory lesions located in the folds. Quality of life is impaired because of pain, pruritus and tendency to infections. Lesions are permanent but acute exacerbations occur in hot seasons because of increased sweating. Usual therapies are often not effective (local treatment, laser, phototherapy). Because sweating is a well established inducing or aggravating factor, botulism toxin could be an effective treatment for these diseases.
Botulism toxin is already used in clinical practice and acts via a decreased sweet secretion. Improvement of skin lesions in Hailey-Hailey or Darier diseases has been previously reported in a few cases but there is no study properly evaluating the benefit of such treatment.
The aim of the project is to study the improvement of quality of life for patients suffering from Hailey-Hailey or Darier diseases after a injections of botulism toxin in large skin folds. The principal objective is to estimate the distribution of the variation of quality of life at M1 vs. baseline.
- Conditions
- Hailey-Hailey Disease, Darier Disease
- Being tested
- Botulism Toxin Treatment
- Keywords
- Botulism Toxin
- Medical subject headings
- Pemphigus, Benign Familial, Darier Disease
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Botulism Toxin TreatmentDrug
Injection of 50 UI of botulism toxin for treated zone
| Study group | Role | What they receive |
|---|---|---|
| Botulism Toxin treatment | Experimental | Injection of 50 UI Botulism toxin for the treated zone Receives: Drug: Botulism Toxin Treatment |
What is being measured
The primary outcome is the main question the study is designed to answer.
Evaluation of quality of life measured by change in the DLQI score
Variation of DLQI score between Baseline and M1
Measured: Day 0 and day 30
Secondary outcomes (19)
Evaluation of quality of life measured by change in the DLQI score
Variation of DLQI score between Baseline and M3
Measured: Day 0 and day 90
Evaluation of quality of life measured by change in the DLQI score
Variation of DLQI score between Baseline and M6
Measured: Day 0 and day 180
Evaluation of skin improvement in treated areas using change the IGA score
Variation of IGA score between Baseline and M1
Measured: Day 0 and Day 30
Evaluation of skin improvement in treated areas using change the IGA score
Variation of IGA score between Baseline and M3
Measured: Day 0 and Day 90
Evaluation of skin improvement in treated areas using change the IGA score
Variation of IGA score between Baseline and M6
Measured: Day 0 and Day 180
Evaluation of psychosocial impairment at measured by change in the HidroQoL score
Variation of HidroQoL score between Baseline and M1
Measured: Day 0 and Day 30
Evaluation of psychosocial impairment measured by change in the HidroQoL score
Variation of HidroQoL score between Baseline and M3
Measured: Day 0 and Day 90
Evaluation of psychosocial impairment measured by change in the HidroQoL score
Variation of HidroQoL score between Baseline and M6
Measured: Day 0 and Day 180
Evaluation by the investigator of the treated lesions global severity change as assessed by comparison using measurement of the affected area
Variation of treated lesions severity between Baseline and M1
Measured: Day 0 and Day 30
Evaluation by the investigator of the treated lesions global severity change as assessed by comparison using measurement of the affected area
Variation of treated lesions severity between Baseline and M3
Measured: Day 0 and Day 90
Evaluation by the investigator of the treated lesions global severity change as assessed by comparison using measurement of the affected area
Variation of treated lesions severity between Baseline and M6
Measured: Day 0 and Day 180
Evaluation of patient's satisfaction Using the IGA score " Improvement Global Assessment "
Measured: Day 180
Evaluation of patient treatment acceptability using visual analogic pain scale
Measured: Day 0 after injection
Evaluation of acceptability over the medium to long term as assessed by occurence of side effects
Measured: Day 30
Evaluation of acceptability over the medium to long term as assessed by occurence of side effects
Measured: Day 90
Evaluation of acceptability over the medium to long term as assessed by occurence of side effects
Measured: Day 180
Evaluation of long term efficacy as assessed by percentage of non-responder patients with IGA score egal to 0
Measured: Day 30
Evaluation of long term efficacy as assessed by delay for significant relapse (reappearance of skin lesions justifying treatment)
Measured: Up to 180 days
Evaluation of long term efficacy as assessed by comparison between the number of infection episodes occurred during the 6 months before the study or during the 6 months of the study
Measured: Up to 180 days
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted25 May 2016 (estimated)
- Study startSep 2015
- Primary completionNov 2017
- Study completionNov 2017
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for Hailey-Hailey DiseaseStudies of the same condition, open and under way.
- More trials run by University Hospital, ToulouseThe sponsor's other registered studies.
- 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 1
- Primary purpose
- Other
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 30 participants (actual)
Sponsor and investigators
- Lead sponsor
- University Hospital, Toulouse
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Aude MAZA RIOLAND, MD, Principal investigator, University Hospital, Toulouse
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02782702
- Sponsor's protocol ID
- 14 7316 02
- Acronym
- ToxHD
- Status last verified
- Sep 2026
- First submitted
- 20 May 2016
- Last updated
- 21 Sep 2026
- Results posted
- No
- Data monitoring committee
- Yes
- Individual data sharing
- Undecided
Publications
Dreyfus I, Maza A, Rodriguez L, Merlos M, Texier H, Rousseau V, Sommet A, Mazereeuw-Hautier J. Botulinum toxin injections as an effective treatment for patients with intertriginous Hailey-Hailey or Darier disease: an open-label 6-month pilot interventional study. Orphanet J Rare Dis. 2021 Feb 18;16(1):93. doi: 10.1186/s13023-021-01710-x.
PubMed 33602313
Study at a glance
From the registry record, last updated by the sponsor on 21 Sep 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Evaluation of the Improvement of Quality of Life of Patients Suffering From Hailey Hailey or Darier Disease After Injections of Botulism Toxin Into Large Folds. Toxin Hailey Darier
- ClinicalTrials.gov ID
- NCT02782702
- Acronym / sponsor ID
- ToxHD / 14 7316 02
- Conditions
- Hailey-Hailey Disease, Darier Disease
- Keywords
- Botulism Toxin
- Phase
- Phase 1
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 30 participants (actual)
- Lead sponsor
- University Hospital, ToulouseUniversity, hospital or other
- Study start
- Sep 2015
- Primary completion
- Nov 2017 (actual)
- Study completion
- Nov 2017 (actual)
- First posted
- 25 May 2016 (estimated)
- 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 and Darier disease are rare genetic dermatoses. Mutations of 2 genes (ATP2C1 or ATP2A2 respectively) are responsible for the diseases. These genes have a key role in calcium pump; their defect create abnormal link between keratinocytes' desmosomes and induce skin lesions. Clinically, patients present with inflammatory lesions located in the folds. Quality of life is impaired because of pain, pruritus and tendency to infections. Lesions are permanent but acute exacerbations occur in hot seasons because of increased sweating. Usual therapies are often not effective (local treatment, laser, phototherapy). Because sweating is a well established inducing or aggravating factor, botulism toxin could be an effective treatment for these diseases.
Botulism toxin is already used in clinical practice and acts via a decreased sweet secretion. Improvement of skin lesions in Hailey-Hailey or Darier diseases has been previously reported in a few cases but there is no study properly evaluating the benefit of such treatment.
The aim of the project is to study the improvement of quality of life for patients suffering from Hailey-Hailey or Darier diseases after a injections of botulism toxin in large skin folds. The principal objective is to estimate the distribution of the variation of quality of life at M1 vs. baseline.
Study design
- Primary purpose
- Other
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Botulism Toxin treatment | Experimental | Drug: Botulism Toxin TreatmentInjection of 50 UI Botulism toxin for the treated zone |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
Key inclusion criteria (6 listed)
- Confirmed diagnosis (clinical and histological features) of Hailey Hailey or Darier diseases.
- Moderate to very severe lesions located in large folds
- Patient aged 18 ans or more
- Patient with health coverage
- Patient who have signed the consent form
Key exclusion criteria (10 listed)
- Hypersensibility to toxin or excipients
- Myastheny
- Deglutition's problems
- Past medical history of dysphagia or aspiration pneumonia
- Pregnancy (positive B-HCG test performed a maxima 72h before) or breastfeeding
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 |
|---|---|---|
| Botulism Toxin TreatmentInjection of 50 UI of botulism toxin for treated zone | Drug | Botulism Toxin treatment |
Primary outcome
Evaluation of quality of life measured by change in the DLQI score
Time frame: Day 0 and day 30
Variation of DLQI score between Baseline and M1
19 secondary outcomes
Evaluation of quality of life measured by change in the DLQI score
Time frame: Day 0 and day 90
Evaluation of quality of life measured by change in the DLQI score
Time frame: Day 0 and day 180
Evaluation of skin improvement in treated areas using change the IGA score
Time frame: Day 0 and Day 30
Evaluation of skin improvement in treated areas using change the IGA score
Time frame: Day 0 and Day 90
Evaluation of skin improvement in treated areas using change the IGA score
Time frame: Day 0 and Day 180
Evaluation of psychosocial impairment at measured by change in the HidroQoL score
Time frame: Day 0 and Day 30
Evaluation of psychosocial impairment measured by change in the HidroQoL score
Time frame: Day 0 and Day 90
Evaluation of psychosocial impairment measured by change in the HidroQoL score
Time frame: Day 0 and Day 180
Evaluation by the investigator of the treated lesions global severity change as assessed by comparison using measurement of the affected area
Time frame: Day 0 and Day 30
Evaluation by the investigator of the treated lesions global severity change as assessed by comparison using measurement of the affected area
Time frame: Day 0 and Day 90
Evaluation by the investigator of the treated lesions global severity change as assessed by comparison using measurement of the affected area
Time frame: Day 0 and Day 180
Evaluation of patient's satisfaction Using the IGA score " Improvement Global Assessment "
Time frame: Day 180
Evaluation of patient treatment acceptability using visual analogic pain scale
Time frame: Day 0 after injection
Evaluation of acceptability over the medium to long term as assessed by occurence of side effects
Time frame: Day 30
Evaluation of acceptability over the medium to long term as assessed by occurence of side effects
Time frame: Day 90
Evaluation of acceptability over the medium to long term as assessed by occurence of side effects
Time frame: Day 180
Evaluation of long term efficacy as assessed by percentage of non-responder patients with IGA score egal to 0
Time frame: Day 30
Evaluation of long term efficacy as assessed by delay for significant relapse (reappearance of skin lesions justifying treatment)
Time frame: Up to 180 days
Evaluation of long term efficacy as assessed by comparison between the number of infection episodes occurred during the 6 months before the study or during the 6 months of the study
Time frame: Up to 180 days
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 21 Sep 2026.
- Results publication: PubMed 33602313Dreyfus I, Maza A, Rodriguez L, Merlos M, Texier H, Rousseau V, Sommet A, Mazereeuw-Hautier J. Botulinum toxin injections as an effective treatment for patients with intertriginous Hailey-Hailey or Darier disease: an open-label 6-month pilot interventional study. Orphanet J Rare Dis. 2021 Feb 18;16(1):93. doi: 10.1186/s13023-021-01710-x.
- Individual participant dataSharing planned: Undecided
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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.
Aude MAZA RIOLAND, MD principal investigator
University Hospital, Toulouse
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A Phase 1 study testing Botulism Toxin Treatment in people with Hailey-Hailey Disease and Darier Disease, run by University Hospital, Toulouse at 1 site in France.
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 6 inclusion and 10 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 21 Sep 2026. 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 France. 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.
What does this phase mean?
Phase 1 studies test a treatment in a small group of people for the first time or in a new way, mainly to check safety and find the right dose.
Not every study follows the same path, and some studies (observational studies, device studies) have no phase.
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?
Evaluation of quality of life measured by change in the DLQI score (time frame: Day 0 and day 30). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT02782702, which also lists 1 linked publication.
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 21 Sep 2026.