Allogeneic Hematopoietic Stem Cell Transplant For Epidermolysis Bullosa

• Status: Terminated
• Trial end date: 2011-08-01
• Target enrollment: 0
• Participant gender: All

Summary

RATIONALE: In animal models, stem cells have been shown to home to the skin and repair the biochemical and structural abnormalities associated with recessive dystrophic epidermolysis bullosa (RDEB) (collagen 7 deficiency).

PURPOSE: To determine the safety and effectiveness of stem cell infusion in the treatment of RDEB.

• Phase: N/A
• Accepts Healthy Volunteers?: No

Details

• Lead Sponsor: Masonic Cancer Center, University of Minnesota
• Treatments: Busulfan; Cyclophosphamide; Fludarabine; Fludarabine phosphate; Vidarabine

Criteria

Inclusion criteria:

• Diagnosis of epidermolysis bullosa (EB)

• Documented collagen type VII deficiency by:

• Antigenic mapping (LH7.2 antibody)

• Ultrastructure analysis of anchoring fibrils

• DNA mutation analysis

• Performance status: >50% Lansky; >50% Karnofsky

• Adequate organ function

• Renal: glomerular filtration rate > 60ml/min/1.73m2 patients aged ≤ 10 years

• Hepatic: bilirubin, aspartate aminotransferase/alanine aminotransferase (AST/ALT), Alkaline phosphatase (ALP) < 5 x upper limit of normal 4.2.3 Pulmonary: oxygen saturation >92% 4.2.4 Cardiac: left ventricular ejection fraction > 45%.

• Healthy related hematopoietic stem cell donor available and meeting 1 of the following criteria:

• HLA-A, B, DRB1-identical sibling bone marrow and/or umbilical cord blood donor (first priority)

• HLA-A, B, DRB1-matched or partially matched related donor (second priority)

• Donor may be a carrier but must be unaffected by EB

• 8/8 HLA A, B, C, DRB1 allele level matched unrelated marrow donor (third priority)

• 7/8 HLA-A, B, C, DRB1 allele level matched unrelated marrow donor or 4/6 HLA-A, B (antigen level), DRB1 (allele level) matched unrelated cord blood donor (fourth priority)

Exclusion criteria:

• Active infection at time of transplantation (including active infection with Aspergillus or other mold within 30 days)

• Squamous cell carcinoma of the skin

• History of human immunodeficiency virus (HIV) infection

• Prior transplantation with donor skin