Botulinumtoxin A Treatment in Epidermolysis Bullosa Simplex and Pachyonychia Congenita

• ClinicalTrials.gov Identifier: NCT00936533
• Recruitment Status: Unknown
• First Posted: July 10, 2009
• Last Update Posted: March 9, 2011
• Sponsor: Uppsala University
• Information provided by: Uppsala University

Study Description

Brief Summary:

This study evaluates the clinical effect of foot injection of the bacteria protein Botulinum toxin A on plantar pain in patients with EBS (epidermolysis bullosa simplex) or PC (pachyonychia congenita).

Condition or disease	Intervention/treatment	Phase
Epidermolysis Bullosa Simplex	Drug: Dysport® (Botulinumtoxin A (Btx A)); Drug: Placebo	Phase 2

Detailed Description:

Epidermolysis bullosa simplex (EBS) is the most common subtype of epidermolysis bullosa and mutations in keratin genes (KRT 5/14) are responsible for this condition. Painful blisters and keratoderma of the feet are common and the blisters in EBS typically get worse in the summer due to sweating and increased environmental heat. Since 2010, also the related condition pachyonychia congenita (PC) is included in the study. The primary objective of the study is to evaluate the clinical effect of Botulinum toxin A (Dysport®), injected in the foot, on plantar pain in patients with EBS or PC. Quality of life, pain in feet, effect duration, plantar sweating and safety of the treatment will also be studied.

Study Design

• Study Type: Interventional (Clinical Trial)
• Estimated Enrollment: 40 participants
• Allocation: N/A
• Intervention Model: Single Group Assignment
• Masking: Quadruple (Participant, Care Provider, Investigator, Outcomes Assessor)
• Primary Purpose: Treatment
• Official Title: Botulinumtoxin A Treatment in Epidermolysis Bullosa Simplex and Pachyonychia Congenita - a Double-blind Placebo-controlled Phase II Proof of Concept Study
• Study Start Date: May 2009
• Estimated Primary Completion Date: December 2012
• Estimated Study Completion Date: December 2012

Arms and Interventions

Intervention Details:

• Drug: Dysport® (Botulinumtoxin A (Btx A))
  Single injection in patients´ soles with Btx A in one foot and sodium chloride in the other, with the possibility of a second injection after 12 weeks. The drug will be given in general anaesthesia after curettage of the focal hyperkeratoses. Only the areas with focal hyperkeratoses will be injected with 50 ul per injection.The active drug Btx A (Dysport®, solution for injection) has a concentration of 100 U/ml, and the maximum dose is 300 U per foot.
  Other Name: Dysport®
• Drug: Placebo
  Placebo preparation without active compound, administered as the active drug.
  Other Name: Dysport Placebo

Outcome Measures

Primary Outcome Measures :

1. Determination of the difference between treated and untreated foot in change of pressure (measured by manometry) to reach unbearable pain, VAS=8, from baseline to 5 week after injection. [ Time Frame: 5 weeks ]

Secondary Outcome Measures :

1. Quality of life using a questionnaire (DLQI) [ Time Frame: 12 or 17 weeks ]
2. Pain in feet using a questionnaire (VAS) [ Time Frame: 5, 12 (and 17) weeks ]
3. Effect duration measured with manometry (same as primary end-point but measured at week 12) [ Time Frame: 12 weeks ]
4. Safety by recording of reported adverse events (AE) by the patient at the clinic visits [ Time Frame: 5, 12 (and 17) weeks ]
5. Foot-sweating using iodine-starch imprints before and after injections [ Time Frame: 0 weeks ]

Eligibility Criteria

• Ages Eligible for Study: 16 Years and older (Child, Adult, Older Adult)
• Sexes Eligible for Study: All
• Accepts Healthy Volunteers: No

Criteria

Inclusion Criteria:

• Informed consent received from patient
• Informed consent received from patient´s parents (when patient < 18 years)
• A solid EBS-diagnosis based on genetic analysis and/or phenotype. The EBS-diagnosis will be performed by Professor Anders Vahlquist, Swedish Centre of Genetic skin disorders, Uppsala.
• Age > 16 years
• Patients must be previously untreated with Btx A
• If female, patient is post-menopausal, surgically sterilized, or willing to use an acceptable method of birth control

Exclusion Criteria:

• Contraindication to Btx A
• Contraindication to general anaesthesia
• Use of aminoglycosides, tetracyclines , spectinomycin, lincomycin, polymyxin or muscle relaxants
• Pregnancy or lactation
• Patients unwilling to meet the requirements of the protocol
• Other medical or social reasons for exclusion at the discretion of the Investigator

Contacts and Locations

Contacts

Contact: Carl Swartling; +46 18 611 50 97

Locations

Sweden

Svettmottagningen, Sofiahemmet; Recruiting

Stockholm, Sweden, SE - 114 86

Contact: Carl Swartling +46 8 406 24 31

Principal Investigator: Carl Swartling

Sponsors and Collaborators

Uppsala University

Investigators

• Principal Investigator: Carl Swartling; Uppsala University

More Information

• Responsible Party: Dr Carl Swartling, Sophiahemmet
• ClinicalTrials.gov Identifier: NCT00936533
• Other Study ID Numbers: EBSBTXA09; EudraCT number 2009-010763-17
• First Posted: July 10, 2009
• Last Update Posted: March 9, 2011
• Last Verified: March 2011

Additional relevant MeSH terms:

Epidermolysis Bullosa; Epidermolysis Bullosa Simplex; Pachyonychia Congenita; Nails, Malformed; Skin Abnormalities; Congenital Abnormalities; Skin Diseases, Genetic; Genetic Diseases, Inborn; Skin Diseases; Skin Diseases, Vesiculobullous; Pathological Conditions, Anatomical; Ectodermal Dysplasia; Abnormalities, Multiple; Nail Diseases; abobotulinumtoxinA; Botulinum Toxins, Type A; Botulinum Toxins; Acetylcholine Release Inhibitors; Membrane Transport Modulators; Molecular Mechanisms of Pharmacological Action; Cholinergic Agents; Neurotransmitter Agents; Physiological Effects of Drugs; Neuromuscular Agents; Peripheral Nervous System Agents