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06/07/2018

VHIR participates in the RECOMB project to get a gene therapy against the Severe Combined Immunodeficiency

recomb_884

06/07/2018

It is a clinic assay to develop an autologous gene therapy for the Severe Combined Immunodeficiency caused by a deficit of RAG1.

Dr. Pere Soler Palacín, head of the Research Group on http://en.vhir.org/portal1/grup-equip.asp?s=recerca&contentid=186977 Infection in Immunocompromised Pediatric Patients of VHIR, along with his team, participates in the RECOMB project, a clinic assay to develop an autologous gene therapy for the Severe Combined Immunodeficiency caused by a deficit of RAG1. Children suffering from this disease are called "bubble baby".The RECOMB multi centric project is part of the Horizon 2020 Program (EU Framework Programme for Research and Innovation), and it is led by the Leiden University Medical Center in collaboration with 15 centers from more than 8 countries. Vall d'Hebron Institut de Recerca is the only center participating in the State.Dr. Soler highlights the importance of being part of this project since "it is the first project tackling gene therapy in this subtype of immunodeficiency and, it is especially important as we have the advantage that Catalonia has recently implanted the neonatal screening program to detect Severe Combined Immunodeficiency (SCID)".SCID is the most severe form of primary immunodeficiencies (PID), a set of more than 300 genetic diseases that are characterized by an alteration of the immune system that does not allow the organism to develop an immune response against microorganisms."Neonatal screening has allowed early diagnosis of these children who are now being treated much faster. But once the gene therapy that is being developed in the RECOMB project is a reality, those patients who do not have a compatible donor can be treated with gene therapy ", explains Dr. Soler. Herewith, they will be treated with their own genetically modified stem cells, thus increasing their survival, reducing the toxicity associated with chemotherapy before the transplant from a donor, and eliminating the risk of Graft-Versus-Host disease.Between 2004 and 2012, from 11 patients treated in Vall d'Hebron with a severe combined immunodeficiency, five were caused due to a deficit of RAG1 and they could have benefited from this gene therapy.Currently, this therapy is at the preclinical stage and it is working to develop the vector in an animal model. "The goal is that each hospital can have the vector so that patients do not have to move to do the treatment outside their country," the doctor adds.

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