Epidermolysis Bullosa
Conditions
Brief summary
The term epidermolysis bullosa (EB) is used to describe a group of genetic skin diseases associated with skin weakness, blisters, and chronic wounds. Revertant mosaicism means that there are two genetically different populations of cells due to spontaneous mutations. Some EB patients have normal, non-fragile skin patches which may be areas of revertant mosaicism. In the revertant areas, the proteins function normally, like non-EB skin. In this study, we plan to culture cells from the revertant areas and graft them on to the wounded areas.
Interventions
PROCEDUREGrafting of Autologous Cultured Revertant Keratinocytes
Grafting of two to four epidermal sheets 40cm2 - 50cm2 onto wounded areas
Sponsors
Stanford University
Study design
Allocation
NA
Intervention model
SINGLE_GROUP
Primary purpose
TREATMENT
Masking
NONE
Eligibility
Sex/Gender
ALL
Age
18 Years to No maximum
Healthy volunteers
No
Inclusion criteria
* Clinical diagnosis of EB (simplex, junctional or dystrophic) * Areas of revertant skin that has been confirmed by biopsy * 18 years or older subject willing and able to give consent * Confirmation of EB diagnosis by immunofluorescence (IF), electron microscopy (EM), and genetic testing confirming mutation * At least 100 to 200 cm2 of open erosions on the trunk and/or extremities suitable for skin grafting * Able to undergo adequate anesthesia to allow grafting procedures to take place
Exclusion criteria
* Medical instability limiting ability to travel to Stanford University Medical Center * The presence of medical illness expected to complicate participation and/or compromise the safety of this technique * Active infection with HIV, hepatitis B, or hepatitis C * Active infection in the area that will undergo grafting * Evidence of a systemic infection * Current evidence or a history of skin cancer in the area that will undergo grafting * Active drug or alcohol addiction * Hypersensitivity to vancomycin or amikacin * Receipt of chemical or biological study product for the specific treatment ofEB in the past six months * Positive pregnancy test or breast-feeding
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Expression of the correct protein at the basement membrane zone | Week 52 |
| Engraftment and healing of wounds with genetically revertant keratinocytes | Week 52 |
Secondary
| Measure | Time frame |
|---|---|
| Engraftment and healing of wounds with genetically revertant keratinocytes | Week 8-12 |
| Expression of correct protein at the basement membrane zone | Week 8-12 |
| Expression of the correct protein at the basement membrane zone | Week 25 |
Outcome results
None listed