Botulinumtoxin A Treatment in Epidermolysis Bullosa Simplex and Pachyonychia Congenita

Botulinumtoxin A Treatment in Epidermolysis Bullosa Simplex and Pachyonychia Congenita - a Double-blind Placebo-controlled Phase II Proof of Concept Study

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).

Study Overview

• Status: Unknown
• Conditions: Epidermolysis Bullosa Simplex
• Intervention / Treatment: Drug: Dysport® (Botulinumtoxin A (Btx A)); Drug: Placebo

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 Type: Interventional
• Enrollment (Anticipated): 40
• Phase: Phase 2

Contacts and Locations

• Study Contact: Name: Carl Swartling; Phone Number: +46 18 611 50 97

Study Locations

• Sweden
  • Stockholm, Sweden, SE - 114 86
    • Recruiting
    • Svettmottagningen, Sofiahemmet
    • Contact: Carl Swartling; Phone Number: +46 8 406 24 31
    • Principal Investigator: Carl Swartling

Participation Criteria

Eligibility Criteria

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

Description

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

Study Plan

How is the study designed?

Design Details

• Primary Purpose: Treatment
• Allocation: N/A
• Interventional Model: Single Group Assignment
• Masking: Quadruple

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Time Frame
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.	5 weeks

Secondary Outcome Measures

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

Collaborators and Investigators

• Sponsor: Uppsala University
• Investigators: Principal Investigator: Carl Swartling, Uppsala University

Study record dates

Study Major Dates

• Study Start: May 1, 2009
• Primary Completion (Anticipated): December 1, 2012
• Study Completion (Anticipated): December 1, 2012

Study Registration Dates

• First Submitted: July 8, 2009
• First Submitted That Met QC Criteria: July 9, 2009
• First Posted (Estimate): July 10, 2009

Study Record Updates

• Last Update Posted (Estimate): March 9, 2011
• Last Update Submitted That Met QC Criteria: March 8, 2011
• Last Verified: March 1, 2011

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Skin Diseases; Congenital Abnormalities; Genetic Diseases, Inborn; Pathological Conditions, Anatomical; Skin Diseases, Genetic; Skin Diseases, Vesiculobullous; Nail Diseases; Skin Abnormalities; Abnormalities, Multiple; Ectodermal Dysplasia; Epidermolysis Bullosa; Epidermolysis Bullosa Simplex; Pachyonychia Congenita; Nails, Malformed; Physiological Effects of Drugs; Neurotransmitter Agents; Molecular Mechanisms of Pharmacological Action; Peripheral Nervous System Agents; Cholinergic Agents; Membrane Transport Modulators; Acetylcholine Release Inhibitors; Neuromuscular Agents; Botulinum Toxins; Botulinum Toxins, Type A; abobotulinumtoxinA
• Other Study ID Numbers: EBSBTXA09; EudraCT number 2009-010763-17