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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.

Phase 1
Completed
Conditions
Darier Disease
Hailey-Hailey Disease
Interventions
Drug: Botulism Toxin Treatment
Registration Number
NCT02782702
Lead Sponsor
University Hospital, Toulouse
Brief 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. 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.

Detailed Description

Not available

Recruitment & Eligibility

Status
COMPLETED
Sex
All
Target Recruitment
30
Inclusion Criteria
  • 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.
Exclusion Criteria
  • 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
  • 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
  • Inclusion in another study in the last 2 months.

Study & Design

Study Type
INTERVENTIONAL
Study Design
SINGLE_GROUP
Arm && Interventions
GroupInterventionDescription
Botulism Toxin treatmentBotulism Toxin TreatmentInjection of 50 UI Botulism toxin for the treated zone
Primary Outcome Measures
NameTimeMethod
Evaluation of quality of life measured by change in the DLQI scoreDay 0 and day 30

Variation of DLQI score between Baseline and M1

Secondary Outcome Measures
NameTimeMethod
Evaluation of psychosocial impairment measured by change in the HidroQoL scoreDay 0 and Day 180

Variation of HidroQoL score between Baseline and M6

Evaluation of quality of life measured by change in the DLQI scoreDay 0 and day 180

Variation of DLQI score between Baseline and M6

Evaluation of psychosocial impairment at measured by change in the HidroQoL scoreDay 0 and Day 30

Variation of HidroQoL score between Baseline and M1

Evaluation of patient treatment acceptability using visual analogic pain scaleDay 0 after injection
Evaluation of long term efficacy as assessed by delay for significant relapse (reappearance of skin lesions justifying treatment)Up to 180 days
Evaluation of skin improvement in treated areas using change the IGA scoreDay 0 and Day 180

Variation of IGA score between Baseline and M6

Evaluation by the investigator of the treated lesions global severity change as assessed by comparison using measurement of the affected areaDay 0 and Day 180

Variation of treated lesions severity between Baseline and M6

Evaluation of patient's satisfaction Using the IGA score " Improvement Global Assessment "Day 180
Evaluation of acceptability over the medium to long term as assessed by occurence of side effectsDay 180
Evaluation of long term efficacy as assessed by percentage of non-responder patients with IGA score egal to 0Day 30
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 studyUp to 180 days
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