SUMMARY OF RESEARCH BEING UNDERTAKEN
ResearchConsortium:
Dr. José Luis Jorcano – CIEMAT (Madrid- Spain)
Dra. Marcela Del Rio- CIEMAT (Madrid- Spain)
Dr. Antonio Bernad- CNB (Madrid- Spain)
Dr. Manuel González- Genetrix (Madrid- Spain)
Dr. Alvaro Meana- Centro de transfusión y tejido del Principado
de Asturias (Oviedo- Spain).
Dr. Juan Carlos López- Hospital La Paz (Madrid- Spain)
Dra. Eva López- Hospital La Fe (Valencia- Spain)
Nieves Montero- AEBE (Málaga- Spain)
Dr. Ander Izeta- Fundación Inbiomed (San Sebastián- Spain)
Dra. Itziar Ochotorena- Fundación Inbiomed (San Sebastián-
Spain)
Several leading Spanish
institutions, including hospitals, research centres and the Spanish patient Association
for EB (AEBE) have formed an active Consortium to favour the integration of the Spanish
patient collective in the international arena: the Spanish Working Consortium for
Epidermolisis Bullosa Research and Clinical Patient Care. We have established the first
diagnosis platform for Spanish patients that will diagnose through immuno-histochemistry
and molecular strategies the whole Spanish EB patient cohort.
Secondly, the use of artificial skin as a
treatment for severely burnt patients is well-documented, groups within the Spanish
consortium having an important background on these techniques.
Our research plan addresses the first step
of a putative gene therapy trial for RDEB, i.e. the use of patient’s own
keratinocytes and compatible donor’s fibroblasts as a first step of gene therapy
trial for RDEB.
Hence our aims are
1. Validation of the chimeric skin
transplant in EB patients. This chimeric skin would be used to graft into damaged
areas of patients with EB, conferring a better skin condition (blister-allevation). We
will assess the optimal conditions for obtaining a durable alleviation of the condition in
the treated areas.
2. Set up of a cell bank with patient
keratinocytes/compatible donor fibroblasts. The existence of a centralised facility is
a pre-requisite for any future gene therapy trials. We will also store DNA and serum from
every patient since large-scale trials could be of use in the future.
The project is based on the hypothesis that chimeric skin
transplants will graft onto EB patients, as is the case in the damaged skin of severely
burnt patients. If the success of this is less than expected, the focused clinical trials
will pave the way for large-scale human gene therapy trials in the near future.
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