Efficacy of Granulocyte Colony Stimulating Factor (GCSF) In Patients With Dystrophic Epidermolysis Bullosa

Phase 2

Completed

Brief Summary: This is a feasibility study to see if Granulocyte Colony Stimulating Factor (GCSF) is effective as a treatment of Dystrophic Epidermolysis Bullosa (EB). Patients will receive one course of treatment with the study drug. The course will be 7 days in length. After receiving GCSF, patients will be followed at 7 and 30 days following the discontinuation of the drug. Thirty day follow up can be done via telephone communication with the patient or family.

Detailed Description: Each patient will be given 10 micrograms per kilogram per day of G-CSF subcutaneously for 6 consecutive days. On day 7 each patient will be seen and evaluated in the same manner as on day 0. Patients or their parents (if children are too young to reliably respond themselves) will also be asked to rate the following via a visual analog scale of 1-9- oral pain, pruritus, oral pain, swallowing, and overall sense of well-being. A telephone follow-up will be conducted on all patients 28 days after G-CSF so as to evaluate if the effect noted on day 7 was sustained.

Recruitment & Eligibility

Inclusion Criteria

Each patient must have the diagnosis of severe generalized recessive dystrophic EB (formerly known as Hallopeau-Siemens RDEB) confirmed by clinical criteria and either of the following:
1. transmission electron microscopy
2. immunofluorescence antigenic mapping and type VII collagen monoclonal antibody staining
3. COL7A1 mutational analysis

Exclusion Criteria

The patient must not have a history of squamous cell carcinoma or any internal malignancy.
Female patients who are pregnant.
Patients with active signs and symptoms of infection.

Arm && Interventions

Group	Intervention	Description
Granulocyte Colony Stimulating Factor (GCSF)	Granulocyte Colony Stimulating Factor (GCSF)	GCSF 10mcg/kg/d subcutaneously (SQ) for 7 days

Primary Outcome Measures

Name	Time	Method
Percent Change of Active Blisters and in Total Blister/Erosion Counts	7 days	Percent change of active blisters and in total blister/erosion counts from baseline to 7 days

Secondary Outcome Measures

Name	Time	Method
Surface Area of Nonhealing Erosions	7 days	Change in surface area of one or two nonhealing erosions
Overall Improved Symptomatology	28 days	Overall clinical improvement in symptomatology and/or findings, as assessed by either the patient or parent. This would include decrease in the number and size of blister and erosions, decreased pain, improved comfort of the patient.