This trial will create a skin graft, which the investigators call "LEAES," using the patient's own skin cells that have been genetically engineered in the lab to express a missing protein called type VII collagen. The corrected cells will be transplanted back to the patient.
The research project involves gene transfer into keratinocytes, which are the majority of the cells in the outer layer of skin. In this gene transfer trial, we plan to biopsy some skin tissue, grow the cells in a skin cell culture (sterile dishes with special fluid that allows cells to grow and multiply) and then infect the cells with a virus that we have genetically engineered to insert the correct type VII collagen gene. The cells should then make type VII collagen.
The process of inserting the correct type VII collagen gene into cells is called "gene transfer." The virus used is called a "retrovirus." The virus is made so that it only delivers the type VII collagen gene and it should not spread to other parts of the body. During the study we will check for growth of the virus.
After cells have received gene transfer, we will grow the cells in culture into a sheet of cells that look like a plastic film. We plan to graft the sheet to wounds. Grafting means we will take cells from the culture and stitch them to the patient's skin.
- Clinical diagnosis of recessive dystrophic epidermolysis bullosa (RDEB)
- 13 years old or older and willing and able to give assent/consent
- Confirmation of RDEB diagnosis by immunofluorescence (IF) and electron microscopy (EM)
- NC1[+] and mAb LH24 antibody staining negative
- RDEB type VII collagen mutations in subject and carrier parents confirmed
- At least 100 to 200 cm2 areas 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.
- Please click the link below for exclusion criteria.
