A Phase 1/2A Single Center Trial of Gene Transfer for Recessive Dystrophic Epidermolysis Bullosa (RDEB) Using the Drug LZRSE-Col7A1 Engineered Autologous Epidermal Sheets (LEAES)
Recessive dystrophic epidermolysis bullosa (RDEB) is a severe inherited blistering skin disease caused by absence of a protein known as type VII collagen. Patients with RDEB develop large, severely painful blisters and open wounds from minor trauma to their skin. This trial will create a graft, which the investigators call "LEAES," of the patient's own skin that has been genetically engineered in the investigators lab to express this missing protein. The purpose of this study is to achieve proof-of-concept for this general approach to cell-based gene therapy in humans and to set the stage for further therapeutic extension in RDEB. The investigators will basically take a subject's own cells, correct them in culture, and then transplant the corrected cells back onto them.
Stanford is now accepting new patients for this trial.
- M. Peter Marinkovich, MD
- H. Peter Lorenz, MD
- Phuong Khuu
- Louise Furukawa
- Jean Y. Tang MD PhD
- Paul A. Khavari, MD, PhD
- genetic : LZRSE-Col7A1 Engineered Autologous Epidermal Sheets (LEAES)
Phase: Phase 1/Phase 2
Ages Eligible For Study:
1. Clinical diagnosis of recessive dystrophic epidermolysis bullosa (RDEB) 2. 13 years old or older and willing and able to give assent/consent 3. Confirmation of RDEB diagnosis by immunofluorescence (IF) and electron microscopy (EM) 4. NC1[+] and mAb LH24 antibody staining negative 5. RDEB type VII collagen mutations in subject and carrier parents confirmed 6. At least 100 to 200 cm2 areas of open erosions on the trunk and/or extremities suitable for skin grafting 7. Able to undergo adequate anesthesia to allow grafting procedures to take place.