MT2015-20: Biochemical Correction of Severe EB by Allo HSCT and Serial Donor MSCs

MT2015-20: Biochemical Correction of Severe Epidermolysis Bullosa by Allogeneic Cell Transplantation and Serial Donor Mesenchymal Cell Infusions

This is a single-institution, phase II study to determine the event-free survival at 1 year post allogeneic transplant and serial mesenchymal stem cell (MSC) infusions from a related donor (HLA identical, mismatched or haploidentical) or matched unrelated donor for the biochemical correction of severe epidermolysis bullosa (EB).

Inclusion Criteria:

• Diagnosis of severe form of EB characterized by collagen, laminin, integrin, keratin or plakin deficiency (by immunofluorescence staining with protein specific antibodies or Western blotting and by mutation analysis).

• Adequate organ function within 4 weeks of study registration defined as:

  • Renal: glomerular filtration rate within normal range for age
  • Hepatic: Hepatic: bilirubin, AST/ALT, ALP < 5 x upper limit of normal
  • Pulmonary: adequate pulmonary function in the opinion of the enrolling investigator
  • Cardiac: left ventricular ejection fraction ≥ 45%, normal EKG or approved by Cardiology for transplant

• Sexually active participants must agree to use adequate birth control for the during the study period (from before the start of the preparative chemotherapy through 1 year post-transplant)

• Available donor per section 5: targeted MFI < 1,000 (MFI exceeding 1000 must be approved by the PI and treatment team.)

• Voluntary written consent - adult or parent (with information sheet for minors, if applicable) prior to any research related procedures or treatment

Exclusion Criteria:

• beta 3 laminin JEB mutants
• Active untreated systemic infection at time of transplantation (including active infection with Aspergillus or other mold within 30 days)
• History of HIV infection
• Evidence of squamous cell carcinoma
• Pregnant or breast feeding. Females of child-bearing potential must have a negative pregnancy test prior to study registration as the agents administered in this study are Pregnancy Category C and D.