Gene Transfer for Recessive Dystrophic Epidermolysis Bullosa

Inclusion Criteria

• 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.

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, such as active infection with HIV, hepatitis B or hepatitis C, as determined by hepatitis B surface antigen screening, detection of hepatitis C antibodies, or positive result of hepatitis C polymerase chain reaction (PCR) analysis.
• Antibodies to type VII collagen associated antigens
• Active infection in the area that will undergo grafting
• Evidence of systemic infection
• Current evidence or a history of squamous cell carcinoma 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 of RDEB in the past six months
• Positive pregnancy test or breast-feeding
• Clinically significant abnormalities (Grade 2 or higher on the National Cancer Institute [NCI] toxicity scale) on laboratory tests performed prior to grafting, except for the following specific exclusionary laboratory threshold results, subject to approval or exemption by the EB physician:
• Albumin 20K/uL
• Hemoglobin < 7.5 g/dL. Low hemoglobin will be treated at the discretion of the investigators and the EB physician.
• Additional exceptions may be made at the discretion of the investigators and the EB physician.
• Clinically significant abnormalities (Grade 2 or higher on the NCI toxicity scale) identified through medical history and physical examination on Day 0, with the following exceptions:
• Anorexia, can enroll up to Grade 4 (inclusive)
• Constipation, can enroll up to Grade 2 (inclusive)
• Dysphagia, can enroll up to Grade 4 (inclusive)
• Keratitis, can enroll up to Grade 4 (inclusive)
• Bone pain, can enroll up to Grade 2 (inclusive)
• Additional exceptions may be made at the discretion of the investigators and the EB physician.