Allogeneic Stem Cell Transplantation (ALLOSCT) in Recessive Dystrophic Epidermolysis Bullosa (RDEB) (RDEB)
Epidermolysis Bullosa
About this trial
This is an interventional treatment trial for Epidermolysis Bullosa focused on measuring Allogeneic Stem Cell Transplant, AlloSCT, RDEB, recessive dystrophic epidermolysis bullosa
Eligibility Criteria
Inclusion Criteria:
- Recessive Dystrophic Epidermolysis Bullosa (RDEB)
- Diagnosis of RDEB using molecular diagnosis and sequencing of mutations
- Skin biopsy to determine status of type VII collagen
- Age ≤21 years
Patient must have adequate organ function as below:
Adequate renal function defined as:
- Serum creatinine less than or equal to 1.5 x normal, or
- Creatinine clearance or radioisotope glomerular filtration rate (GFR) =40 ml/min/m2 or > 60 ml/min/1.73 m2 or an equivalent GFR as determined by the institutional normal range
Adequate liver function defined as:
- Serum glutamic oxaloacetic transaminase (SGOT) (aspartate aminotransferase (AST)) or serum glutamic-pyruvic transaminase (SGPT) (alanine aminotransferase (ALT))< 5.0 x normal
Adequate cardiac function defined as:
- Shortening fraction of ≥28% by echocardiogram, or
- Ejection fraction of ≥48% by radionuclide angiogram or echocardiogram
Adequate pulmonary function defined as:
- Uncorrected diffusing capacity of the lungs for carbon monoxide (DLCO) ≥35% by pulmonary function test
- For children who are uncooperative, no evidence of dyspnea at rest
Exclusion Criteria:
- Karnofsky/Lansky Performance Score <50%
- Pregnant or nursing
- Uncontrolled bacterial, viral or mold infection
- History or presence of skin squamous cell carcinoma
Sites / Locations
- The Children's Hospital
- Children's Memorial Hospital
- Morgan Stanley Children's Hospital of NYP
Arms of the Study
Arm 1
Experimental
RIC Group
Reduced Intensity Transplant Conditioning (RIC): Palifermin (Kepivance®) 60 mcg/kg/day for 6 days Fludarabine 30 mg/m2 IV x 1 for 6 days Busulfan 4 mg/kg/day IV divided BID for 4 days Lorazepam 0.02-0.05 mg/kg for 5 days Alemtuzumab 20 mg/m2 IV for 5 days Tacrolimus 0.03mg/kg/24 hours as continuous infusion for 4 days