Allogeneic Stem Cell Transplantation (ALLOSCT) in Recessive Dystrophic Epidermolysis Bullosa (RDEB)

• Status: Terminated
• Trial end date: 2015-09-01
• Target enrollment: 0
• Participant gender: All

Summary

Reduced Intensity Conditioning (RIC) and Allogeneic Stem Cell Transplantation (AlloSCT) from family-related donors and unrelated cord blood (UCB) donors will be safe and well tolerated in selected patients with RDEB.

To determine the event-free survival (EFS) and overall survival (OS) following RIC consisting of busulfan/fludarabine/alemtuzumab (BFA) and AlloSCT in selected patients with RDEB.

• Phase: Early Phase 1
• Accepts Healthy Volunteers?: No

Details

• Lead Sponsor: Columbia University
• Treatments: Alemtuzumab; Busulfan; Fludarabine; Lorazepam; Tacrolimus

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:

1. 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

2. 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

3. Adequate cardiac function defined as:

• Shortening fraction of ≥28% by echocardiogram, or

• Ejection fraction of ≥48% by radionuclide angiogram or echocardiogram

4. 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