Dystrophic Epidermolysis Bullosa
Conditions
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.
Interventions
G-CSF 10mcg/kg/d SQ for 7 days
Sponsors
Vanderbilt University Medical Center
Study design
Allocation
NA
Intervention model
SINGLE_GROUP
Primary purpose
TREATMENT
Masking
NONE
Eligibility
Sex/Gender
ALL
Healthy volunteers
No
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.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| 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
| Measure | Time frame | Description |
|---|---|---|
| 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. |
Countries
United States
Participant flow
Participants by arm
| Arm | Count |
|---|---|
| Granulocyte Colony Stimulating Factor (GCSF) GCSF 10mcg/kg/d SQ for 7 days
Granulocyte Colony Stimulating Factor (GCSF): G-CSF 10mcg/kg/d SQ for 7 days | 7 |
| Total | 7 |
Baseline characteristics
| Characteristic | Granulocyte Colony Stimulating Factor (GCSF) |
|---|---|
| Age, Categorical <=18 years | 6 Participants |
| Age, Categorical >=65 years | 0 Participants |
| Age, Categorical Between 18 and 65 years | 1 Participants |
| Region of Enrollment United States | 7 participants |
| Sex: Female, Male Female | 4 Participants |
| Sex: Female, Male Male | 3 Participants |
Adverse events
| Event type | EG000 affected / at risk |
|---|---|
| deaths Total, all-cause mortality | — / — |
| other Total, other adverse events | 0 / 7 |
| serious Total, serious adverse events | 0 / 7 |
Outcome results
Primary
Percent Change of Active Blisters and in Total Blister/Erosion Counts
Percent change of active blisters and in total blister/erosion counts from baseline to 7 days
Time frame: 7 days
Population: Time frame was originally entered as 30 days. This was not consistent with the protocol which listed a 7 day time frame for this Outcome
| Arm | Measure | Value (MEAN) | Dispersion |
|---|---|---|---|
| Granulocyte Colony Stimulating Factor (GCSF) | Percent Change of Active Blisters and in Total Blister/Erosion Counts | -29.6 percent change | Standard Deviation 30.3 |
p-value: 0.82Regression, Linear
Secondary
Overall Improved Symptomatology
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.
Time frame: 28 days
| Arm | Measure | Value (COUNT_OF_PARTICIPANTS) |
|---|---|---|
| Granulocyte Colony Stimulating Factor (GCSF) | Overall Improved Symptomatology | 6 Participants |
Secondary
Surface Area of Nonhealing Erosions
Change in surface area of one or two nonhealing erosions
Time frame: 7 days
Population: Time frame was originally entered as 30 days. This was not consistent with the protocol which listed a 7 day time frame for this Outcome
| Arm | Measure | Value (MEAN) | Dispersion |
|---|---|---|---|
| Granulocyte Colony Stimulating Factor (GCSF) | Surface Area of Nonhealing Erosions | -35.3 percentage change | Standard Deviation 100.8 |