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Therapeutic Potential of Human Umbilical Cord Blood-Derived Stem Cells in RDEB Animal Models

Project leadProf. Mitchell Cairo
Organisation New York Medical College
Project budgetUSD 274,500.00
Start date / Duration01. Jul 2012 / 36 months
Funder(s) / Co-Funder(s) DEBRA Austria, MSAP/EBEP Recommended
Research area Molecular therapy, Cellular therapy

Project details

Short lay summary

Consistent with previous animal studies by our group and others, the initial reports of allogeneic stem cell transplantation in seven children with RDEB indicated an amelioration of the clinical manifestation of RDEB. However, although the Col7A1 protein has been observed in the skin of some transplanted patients, few anchoring fibrils have been identified. To date, many questions still remain to be answered before an effective cure for RDEB can be reached. A major question is what are effective cells in cord blood (CB), and whether these cells can be isolated, expanded and co-administered with blood or bone marrow. Other important questions include the trafficking of the donor cells inside the host following transplantation. Do the majority of the CB transplanted cells die or survive and proliferate? Where do they go after an injection? Do they get trapped in other organs? These questions are essential to understand the mechanism(s) responsible for the efficacy of this allogeneic stem cell transplantation approach. Here we propose to study two novel stem cell types that are to be derived from human umbilical CB and determine their ability to correct the phenotypes in transgenic animals with RDEB and human RDEB skin equivalents. We also propose to monitor the trafficking of these CB-derived stem cells in the proposed animal models by real-time and 3-dimensional imaging.

What did this project achieve?

Here we demonstrated promising therapeutic potential of a novel stem cell population isolated from human umbilical cord blood, named unrestricted somatic stem cells, in the treatment of RDEB. Our previous studies demonstrated that USSC treatment promotes wound healing and facilitates skin regeneration in a mouse model of wounding. Here, we systemically injected USSCs to the newborn RDEB mice (Col7A1 knockout) that lack C7 protein. Without any treatment, these RDEB mice develop significant blistering and do not survive past 5 days of life span. Following a single USSC injection, we observed a significant rescue of the blistering phenotype and elongation of the life span in the recipient RDEB mice. Repeated injection of the cells further elongated the survival of some of the recipient mice to more than three months. In the recipient mice, we observed a significant improvement in the overall skin integrity. We were also able to detect the injected human cells in the mouse dermis and hair follicles. The C7 expression was partially rescued. All these improvements were obtained by injection of a low cell number, without any immunosuppression.
Extensive preclinical studies have demonstrated that cord blood-derived USSCs are a safe source of stem cells and do not form a tumor in the recipients. The isolation of USSCs, clinical-scale expansion, cryopreservation, and thawing of USSCs can be performed in compliance with good manufacturing practice
(GMP) standards. Our current study has warranted future clinical investigation of USSCs as a universal stem cell donor in selected patients with RDEB.


cord blood
allogeneic stem cell Transplantation
New York Medical College
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