Epidermolysis Bullosa Clinical Trial

This is a single institution phase II trial to determine the effectiveness of stem cells from closely matched related and unrelated donors to replace missing or defective proteins responsible for severe forms of epidermolysis bullosa.

Eligibility Criteria

• Patients aged < 25 years of age
• Diagnosis of a severe form of EB characterized by collagen, laminin, keratin, integrin or plakin deficiency
• Adequate organ function
• HLA matched related or unrelated marrow donor or partially HLA matched unrelated umbilical cord blood donor
• Available "off-the-shelf" mesenchymal stem cell product

Ineligibility Criteria

• Active infection at time of transplant
• History of HIV infection
• Squamous cell carcinoma
• Prior transplantation with skin from the stem cell donor
• Pregnancy or breast feeding. Females of child-bearing age must have a documented negative pregnancy test and agree to use contraception as condition for enrollment.

Consultation Visit

The focus of the consultation is to inform you of the results of therapy to date. The following information is required prior to your or your child's consultation:

• Clinical summary from a treating physician, including history of prior surgeries, transfusions, skin grafts, medications, allergies, infections
• Skin biopsy report (including immunofluorescent staining)
• DNA mutation report (if not previously done, we will provide directions)

Screening Visit

Prior to knowing if you or your child meets all the eligibility requirements for the stem cell transplant procedure, you or your child will need to go through an evaluation. The screening visit will involve skin biopsies, blood tests, photographs, assessment of skin fragility, CT scans and consultation with specialists. In addition, the visit will entail review of the clinical history and detailed to review of what is known and unknown regarding the proposed treatment procedure using stem cell populations from an allogeneic donor.

Based on this information, you or your child may need additional evaluations (e.g., dermatology, surgery, gastroenterology).

Contact Information

Patty Kleinke, RN, BAN
Pediatric BMT Lead Nurse Clinician
Blood and Marrow Transplant Program
Phone: 612-273-2800
Email: Pkleink1@fairview.org