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

The recruitment status of this study is unknown. The completion date has passed and the status has not been verified in more than two years.
Verified February 2012 by Columbia University.
Recruitment status was:  Active, not recruiting
Information provided by (Responsible Party):
Columbia University Identifier:
First received: April 14, 2009
Last updated: February 14, 2012
Last verified: February 2012

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.

Condition Intervention Phase
Epidermolysis Bullosa Drug: Reduced Intensity Transplant conditioning Early Phase 1

Study Type: Interventional
Study Design: Allocation: Non-Randomized
Intervention Model: Single Group Assignment
Masking: None (Open Label)
Primary Purpose: Treatment
Official Title: A Pilot Study of Reduced Intensity Conditioning (RIC) and Allogeneic Stem Cell Transplantation (ALLOSCT) In Children With Recessive Dystrophic Epidermolysis Bullosa (RDEB)

Resource links provided by NLM:

Further study details as provided by Columbia University:

Primary Outcome Measures:
  • 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. [ Time Frame: Day+30, Day+60, Day+100, 1year, 2 years ]

Secondary Outcome Measures:
  • Quantitate the percent of whole blood (CD45), T-cell (CD3), and NK cell (CD56) chimerism following RIC and AlloSCT in selected patients with RDEB [ Time Frame: Pre transplant, Day +60, Day +100, Day +180, Day +365, Day +730 ]
  • Quantitate the percent of donor skin dermal chimerism following RIC and AlloSCT in selected patients with RDEB. [ Time Frame: Pre Transplant, Day +30, Day +60, Day +100, Day +180, Day +365, Day +730 ]
  • Compare the gene and protein expression of COL7A1 in the skin pre and post AlloSCT [ Time Frame: Pre- Transplant, Day +30, Day +60, Day +100, Day +180, Day +365, Day +730 ]

Estimated Enrollment: 20
Study Start Date: March 2009
Estimated Study Completion Date: July 2014
Estimated Primary Completion Date: June 2014 (Final data collection date for primary outcome measure)
Arms Assigned Interventions
Experimental: group 1
Reduced Intensity
Drug: Reduced Intensity Transplant conditioning

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

Other Name: RIC

Detailed Description:

Epidermolysis bullosa (EB), is a diverse group of genodermatoses, which is considered a rare and orphan disease and affects approximately 1 in 20,000 people in the United States for a cumulative total of close to 20,000[1-4]. There are three major subtypes of inherited EB, including EB simplex (EBS), junctional EB (JEB), and dystrophic EB[1-4]. RDEB is among the most severe and represents approximately 10% of all forms of EB[1-4]. A rough estimate would then project that there are several thousand patients with RDEB in the U.S. at the current time. Up to 30 different clinical phenotypes and mutations in at least 10 structural genes in different sub-types of EB have been reported[4-8]. In addition to heritable subtypes of EB, there is an acquired autoimmune form in which the patients develop auto-antibodies directed against similar proteins of the inherited dystrophic forms of EB, including EB acquisita (EBA).

We have previously reported our experience with RIC with BFA [48] in pediatric AlloSCT recipients (mean age 9.5 yrs [1.4-21], 11/4 M/F, 10 non-malignant, 5 malignant disease, [6 sibling, 5 UCB, 5 matched unrelated donor]); median time to ANC ≥ 500/mm3 and platelet count ≥20K/mm3 was 22 and 30 days, respectively. Probability of day +180 and 365 donor chimerism was 90% (Figure 7), and OS was 95% (Figure 8). This conditioning regimen therefore results in a high degree of donor chimerism and survival with minimal regimen related mortality.


Ages Eligible for Study:   up to 21 Years   (Child, Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No

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 by IF, EM and q-PCR
  • 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 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:

      • SGOT (AST) or SGPT (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 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
  Contacts and Locations
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Please refer to this study by its identifier: NCT00881556

United States, Colorado
The Children's Hospital
Aurora, Colorado, United States, 80045
United States, Illinois
Children's Memorial Hospital
Chicago, Illinois, United States, 60614
United States, New York
Morgan Stanley Children's Hospital of NYP
New York, New York, United States, 10032
Sponsors and Collaborators
Columbia University
Principal Investigator: Angela Christiano, PhD Columbia University
  More Information

Responsible Party: Columbia University Identifier: NCT00881556     History of Changes
Other Study ID Numbers: AAAD5420
CHNY-08-536 ( Other Identifier: CUMC )
Study First Received: April 14, 2009
Last Updated: February 14, 2012

Keywords provided by Columbia University:
Allogeneic Stem Cell Transplant
recessive dystrophic epidermolysis bullosa

Additional relevant MeSH terms:
Epidermolysis Bullosa
Epidermolysis Bullosa Dystrophica
Skin Abnormalities
Congenital Abnormalities
Skin Diseases, Genetic
Genetic Diseases, Inborn
Skin Diseases
Skin Diseases, Vesiculobullous
Collagen Diseases
Connective Tissue Diseases processed this record on September 21, 2017