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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.
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| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Grafting of Autologous Cultured Revertant Keratinocytes | Procedure | Grafting of two to four epidermal sheets 40cm2 - 50cm2 onto wounded areas |
| Measure | Description | 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 |
| Measure | Description | Time Frame |
|---|---|---|
| Engraftment and healing of wounds with genetically revertant keratinocytes | Week 8-12 | |
| Engraftment and healing of wounds with genetically revertant keratinocytes | Week 25 | |
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Inclusion Criteria:
Exclusion Criteria:
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| Name | Affiliation | Role |
|---|---|---|
| Alfred Lane, MD | Stanford University | Principal Investigator |
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| ID | Term |
|---|---|
| D004820 | Epidermolysis Bullosa |
| ID | Term |
|---|---|
| D012868 | Skin Abnormalities |
| D000013 | Congenital Abnormalities |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D012873 | Skin Diseases, Genetic |
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| Expression of correct protein at the basement membrane zone |
| Week 8-12 |
| Expression of the correct protein at the basement membrane zone | Week 25 |
| D030342 | Genetic Diseases, Inborn |
| D012871 | Skin Diseases |
| D017437 | Skin and Connective Tissue Diseases |
| D012872 | Skin Diseases, Vesiculobullous |