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UC3M participates in clinical study on “Butterfly Skin” in Spain

2/9/17

Universidad Carlos III (UC3M) is collaborating with the Center for Energy, Environmental and Technological Research (whose acronym in Spanish is CIEMAT), the Jiménez Díaz Foundation Health Research Institute (IIS-FJD), La Paz University Hospital and the Network Center for Biomedical Research on Rare Diseases in carrying out a clinical study with stem cells to treat dystrophic epidermolysis bullosa, a disease also known as “Butterfly Skin.” This study is co-funded by the DEBRA (Dystrophic Epidermolysis Bullosa Research Association) patients association.

La UC3M participa en un ensayo clínico sobre la “Piel de Mariposa” en España
 

The clinical study, to take place this year, will be based on systemic administration by intravenous injection of allogeneic haploidentical mesenchymal stem cells from bone marrow as treatment for recessive dystrophic epidermolysis bullosa. The study is financed by the Carlos III Health Institute (AES_ICI14/00327-ICI14/00363), whose promoter is the La Paz University Hospital Foundation for Biomedical Research, and will be carried out by doctors at La Paz Hospital and translational researchers from CIBERER, CIEMAT, IIS-FJD and  UC3M.

The study will attempt to evaluate the ability of mesenchymal stem cells to improve the healing of wounds, which, because of the disease, appear on the person affected at the slightest touch. The study, led by doctors Raúl de Lucas (La Paz Hospital) and María José Escámez (CIBERER/CIEMAT/UC3M/IIS-FJD), is pending approval by the Spanish Agency for Medicines and Health Products (AEMPS, in Spanish) and has funding of 308,000€, 80,000€ of which will be contributed by the DEBRA patients association.

In addition, the DEBRA is going to cover the hiring of a molecular geneticist in 2017 to improve access of persons with Butterfly Skin to genetic diagnostics. Having this kind of diagnosis is of vital importance for both the persons affected and their families, because it makes it possible to determine clearly what type of epidermolysis bullosa they have among the different varieties, providing prognostic value.

About Butterfly Skin

Epidermolysis bullosa (EB), or Butterfly Skin, is a clinical and genetically diverse group of rare skin diseases that make skin extremely fragile. It is characterized by the formation of external and internal (mucous) blisters , spontaneously or as a result of minimal trauma (the graze of the seams of clothes, water from the shower, walking, etc.). The inheritance patterns of EB are autosomal recessive or dominant. The dominant forms are normally mild and the recessive ones are more severe. One of the most serious forms is severe generalized recessive dsytrophic epidermolysis bullosa, which is characterized by a marked diminishing or complete absence of Type VII collagen in dermal-epidermal union caused by mutations in the COL7A1 gene. Type VII collagen plays a fundamental role in cutaneous anchoring. In these cases, the patient’s entire body is affected and the wounds heal slowly, giving rise to physical deformations that include the appearance of pseudosyndactyly (fusion of the digits) on hands and feet, with the resulting functional loss and deterioration of the patient’s quality of life. Currently, different therapeutic strategies are being evaluated, including the transplant of bioengineered skin and the transplant of bone marrow. In Spain, the incidence of EB is 1 in every 50,000 live births; that is, 10 children are born with Butterfly Skin per year. It is currently prevalent in 2 out of every 100,000 people, so there are an estimated 1,000 cases of Butterfly Skin in Spain.