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.

NCT02782702 | Completed Phase 1 DMC

• 1 other identifier: 14 7316 02
• Study Type: interventional
• Target: 30
• Locations: 0 countries
• Sites: N/A

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

Outcome Measures

Primary Outcomes (1)

• Evaluation of quality of life measured by change in the DLQI score

  Variation of DLQI score between Baseline and M1

  Day 0 and day 30

Secondary Outcomes (19)

• Evaluation of quality of life measured by change in the DLQI score

  Day 0 and day 90

• Evaluation of quality of life measured by change in the DLQI score

  Day 0 and day 180

• Evaluation of skin improvement in treated areas using change the IGA score

  Day 0 and Day 30

• Evaluation of skin improvement in treated areas using change the IGA score

  Day 0 and Day 90

• Evaluation of skin improvement in treated areas using change the IGA score

  Day 0 and Day 180

Study Arms (1)

Botulism Toxin treatment

EXPERIMENTAL

Injection of 50 UI Botulism toxin for the treated zone

Drug: Botulism Toxin Treatment

Interventions

Botulism Toxin Treatment DRUG

Injection of 50 UI of botulism toxin for treated zone

Botulism Toxin treatment

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)

You may qualify if:

• 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.

You may not qualify if:

• 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
• 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

Sponsors & Collaborators

• University Hospital, Toulouse: lead

Related Publications (1)

• 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.

  PMID: 33602313 RESULT

MeSH Terms

Conditions

Pemphigus, Benign Familial; Darier Disease

Condition Hierarchy (Ancestors)

Skin Diseases, Genetic; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin Diseases; Skin and Connective Tissue Diseases; Skin Diseases, Vesiculobullous; Keratosis

Study Officials

• Aude MAZA RIOLAND, MD

  University Hospital, Toulouse

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: interventional
• Phase: phase 1
• Allocation: NA
• Masking: NONE
• Purpose: OTHER
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: May 20, 2016
• First Posted: May 25, 2016
• Study Start: September 1, 2015
• Primary Completion: November 1, 2017
• Study Completion: November 1, 2017
• Last Updated: December 13, 2021

Record last verified: 2021-11