Pioneering Research & Clinical Trials

First in the world to provide a systemic therapy for EB, physicians and researchers at the University of Minnesota Masonic Children’s Hospital are continuously exploring newer and safer ways to treat EB to improve the quality of life for those who have the disease. We collaborate with researchers and research organizations around the world, keeping our program at the forefront of EB care globally.

Clinical Trials

Clinical trials are an important aspect to our care model. Through these trials, we are striving to enhance the benefits and minimize the risks to the patient. Physicians and researchers at the University of Minnesota Masonic Children’s Hospital are already exploring newer and safer ways to treat EB and improve the quality of life for those who have the disease. We are also actively involved with collaborating with researchers around the world in this process.

Biochemical Correction of Severe EB by Allo HSCT and Serial Donor MSCs

This is a single-institution, phase II study to determine the event-free survival at 1 year post allogeneic transplant and serial mesenchymal stem cell (MSC) infusions from a related donor (HLA identical, mismatched or haploidentical) or matched unrelated donor for the biochemical correction of severe epidermolysis bullosa (EB). The underlying hypothesis is that the infusion of bone marrow or umbilical cord blood from a healthy unaffected donor will correct the collagen, laminin, integrin, or plakin deficiency and reduce the skin fragility characteristic of severe forms of EB. A secondary hypothesis is that mesenchymal stem cells from a healthy donor will enhance the safety and efficacy of the allogeneic hematopoietic stem cell transplant as well as serve as a source of renewable cells for the treatment of focal areas of residual blistering. Registered at NCT02582775

Biochemical Correction of Severe EB by Allo HSCT and "Off-the-shelf" MSCs

For patients without a well-matched related or unrelated bone marrow donor, a similar single institution, phase II study of allogeneic transplant study is available, using umbilical cord blood stem cells and "off-the-shelf" MSCs. Registered at NCT01033552

Study of CelluTome® System for Treatment of Individual Lesions in EB Patients

Few but persistent wounds often remain even after successful hematopoietic cell transplantation for systemic genodermatosis epidermolysis bullosa (EB). The investigators propose local wound therapy using epidermal skin grafting from the same donor that provided the hematopoietic graft, or from the same EB individual with a mosaic (naturally gene corrected) skin. In both cases permissive immune system and skin chimerism is expected to enable long-term epidermal engraftment and wound healing. The investigators will use FDA approved vacuum device (CelluTome™, Regulation number 878.4820) that enables painless, bloodless and scar-free harvesting of epidermis and its transfer on a square of surgical tape (Tegaderm®) to the recipient as a wound dressing. Registered at NCT01033552

Safety and efficacy of Diacerein 1% ointment topical formulation compared to placebo for subjects with epidermolysis bullosa simplex

Epidermolysis bullosa simplex (EBS) is a rare genetic skin disease characterized by fragility of the skin and mucous membranes resulting in painful blisters and erosions after minor trauma. The simplex form is classified by skin blister development in the basal epidermis. Diacerein 1% Ointment is a topical ointment that is being developed for the treatment of EBS. Diacerein in the topical formulation is hydrolyzed to rhein in the epidermis and dermis following administration. Diacerein and rhein have been shown to inhibit the in vitro and in vivo production and activity of interleukin-1β (IL-1β) and other pro-inflammatory cytokines.The purpose of this study is to compare the efficacy of Diacerein 1% Ointment to Control Ointment when applied once-daily for 8 weeks in subjects with EBS. Registered at NCT03154333

Current Research Projects

  • CelluTome non-invasive skin grafting for chronic wounds
  • Gene correction of EB-causing gene mutations using gene editing
  • Culture expansion of gene-edited skin and bone marrow stem cells
  • 3D reconstruction of healthy skin from gene-edited cells of an individual with EB