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.

NCT ID: NCT02782702

Last Updated: 2021-12-13

Basic Information

• Recruitment Status: COMPLETED
• Clinical Phase: PHASE1
• Total Enrollment: 30 participants
• Study Classification: INTERVENTIONAL
• Study Start Date: 2015-09-30
• Study Completion Date: 2017-11-30

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.

Conditions

Hailey-Hailey Disease; Darier Disease

Keywords

Botulism Toxin

Study Design

• Allocation Method: NA
• Intervention Model: SINGLE_GROUP
• Primary Study Purpose: OTHER
• Blinding Strategy: NONE

Study Groups

Botulism Toxin treatment

Injection of 50 UI Botulism toxin for the treated zone

Group Type: EXPERIMENTAL

Botulism Toxin Treatment

Intervention Type: DRUG

Injection of 50 UI of botulism toxin for treated zone

Interventions

Botulism Toxin Treatment

Injection of 50 UI of botulism toxin for treated zone

Intervention Type: DRUG

Eligibility Criteria

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.

• Minimum Eligible Age: 18 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

University Hospital, Toulouse

OTHER

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Principal Investigators

Aude MAZA RIOLAND, MD

Role: PRINCIPAL_INVESTIGATOR

University Hospital, Toulouse

References

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.

Reference Type: RESULT

PMID: 33602313 (View on PubMed)

Other Identifiers

14 7316 02

Identifier Type: -

Identifier Source: org_study_id