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

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.