Research projects

The goal of this project consists of the implementation of rational therapeutic tools to combat and/or relieve the symptoms of severe generalised Recessive Dystrophic Epidermolysis Bullosa (EBDRsg), a rare genetic disease which causes cutaneous fragility and has no cure. The functional deficiency of the Col VII protein plays a key role in cutaneous anchorage and is the main pathological cause underlying this disease.

Patients with EBDRsg develop multiple erosions distributed all over their body and which often become chronic due to the presence of sustained inflammation. One of the three proposed cell therapy strategies for the treatment of the chronic lesions was initiated during the first six months of the project. Originally the use of transplant of bioengineered skin containing allogenic fibroblasts (and autotransplanted epidermal stem cells) was considered, as these cells are able to supply a stimulus for the regeneration of the skin and an alternative and transitory source of collagen VII. Nevertheless, evidence has been accumulated indicating that the immunomodulating effect of mesenchymal 1 stem cells may be fundamental for the control of the persistent inflammation associated with chronic lesions. Therefore, in collaboration with the Cell and Gene Therapy Unit at the Niño Jesús Hospital in Madrid, accredited by the Ministry of Health for the production of health care products, the manufacture of sheets has begun based on human plasma containing allogenic mesenchymal human cells obtained through liposuction. The production protocol is currently being drawn up prior to being submitted for evaluation by the Spanish Medicines and Health Care Products Agency (AEMPS).