Clinical trial NCT00936533: Botulinumtoxin A Treatment in Epidermolysis Bullosa Simplex and Pachyonychia Congenita
Official title: Botulinumtoxin A Treatment in Epidermolysis Bullosa Simplex and Pachyonychia Congenita - a Double-blind Placebo-controlled Phase II Proof of Concept Study
Study type: INTERVENTIONAL
Overall status: UNKNOWN
Phase: PHASE2
Conditions: Epidermolysis Bullosa Simplex
Lead sponsor: Uppsala University
Sponsor class: OTHER
First posted: 2009-07-10
Enrollment: 40
Sex: ALL
Minimum age (years): 16
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Allocation: NA
Intervention model: SINGLE_GROUP
Primary purpose: TREATMENT

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).

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.

Eligibility 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

Primary outcomes:
measure: 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.
timeFrame: 5 weeks
Secondary outcomes:
measure: Quality of life using a questionnaire (DLQI)
timeFrame: 12 or 17 weeks
measure: Pain in feet using a questionnaire (VAS)
timeFrame: 5, 12 (and 17) weeks
measure: Effect duration measured with manometry (same as primary end-point but measured at week 12)
timeFrame: 12 weeks
measure: Safety by recording of reported adverse events (AE) by the patient at the clinic visits
timeFrame: 5, 12 (and 17) weeks
measure: Foot-sweating using iodine-starch imprints before and after injections
timeFrame: 0 weeks
Other outcomes:
Locations:
city: Stockholm
country: Sweden
facility: Svettmottagningen, Sofiahemmet
Study officials:
affiliation: Uppsala University
name: Carl Swartling
role: PRINCIPAL_INVESTIGATOR
References: