Allogeneic Stem Cell Transplantation (ALLOSCT) in Recessive Dystrophic Epidermolysis Bullosa (RDEB) (RDEB)
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|ClinicalTrials.gov Identifier: NCT00881556|
Recruitment Status : Unknown
Verified February 2012 by Columbia University.
Recruitment status was: Active, not recruiting
First Posted : April 15, 2009
Last Update Posted : February 15, 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 or disease||Intervention/treatment||Phase|
|Epidermolysis Bullosa||Drug: Reduced Intensity Transplant conditioning||Early Phase 1|
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  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.
|Study Type :||Interventional (Clinical Trial)|
|Estimated Enrollment :||20 participants|
|Intervention Model:||Single Group Assignment|
|Masking:||None (Open Label)|
|Official Title:||A Pilot Study of Reduced Intensity Conditioning (RIC) and Allogeneic Stem Cell Transplantation (ALLOSCT) In Children With Recessive Dystrophic Epidermolysis Bullosa (RDEB)|
|Study Start Date :||March 2009|
|Estimated Primary Completion Date :||June 2014|
|Estimated Study Completion Date :||July 2014|
Experimental: group 1
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
- 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 ]
- 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 ]
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): 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|
|Principal Investigator:||Angela Christiano, PhD||Columbia University|