Severe combined immunodeficiency (SCID) is the most severe form of primary immunodeficiencies, a group of diseases characterized by an alteration of the immune system. The project RECOMB, in which Vall d'Hebron participates, has recently launched a clinical trial to develop a gene therapy to cure patients with SCID, popularly known as "bubble child syndrome" who have alterations in the RAG1 gene (IDCG-RAG1), and is currently recruiting volunteers.
SCID affect 1 in 35,000 children worldwide, and SCID caused by alterations in the RAG1 gene is one of the most common types. In patients with this disease, the body is unable to develop an adequate immune response to microorganisms, which can be life-threatening before one year of age if left untreated.
In 2017, the Catalan public health system became the first in Europe to universally incorporate SCID screening into its Neonatal Screening Program. Currently, treatments focus on hematopoietic precursor transplantation (bone marrow, peripheral blood, umbilical cord), but they entail many associated risks, such as graft-versus-host disease or toxicity associated with pre-transplant chemotherapy. In addition, it is noteworthy that it is not always possible to find a compatible donor.
Gene therapy clinical trial for patients without compatible donors
In this context, RECOMB is working on the development of a gene therapy for patients with IDCG-RAG1 who do not have a compatible donor. In these cases, patients are treated with their own genetically modified blood stem cells to correct the alteration in the RAG1 gene. "Our goal is to have new therapeutic options, based on gene therapy, to improve patient survival and decrease the risks involved in carrying out a transplant", says Dr. Pere Soler Palacín, head of the Infectious Pathology and Immunodeficiency Unit of Paediatrics at Vall d'Hebron University Hospital and of the Infection and Immunity in Paediatric Patients group at Vall d’Hebron Research Institute (VHIR).
Recently, the team has launched a phase I/II clinical trial to test this therapy in children under two years of age with IDCG-RAG1 who do not have a donor for transplantation.
RECOMB Project
The RECOMB project is a research consortium born in 2018 that brings together clinical and research professionals from 17 centers in Europe and Israel with expertise in the management of primary immunodeficiencies or inborn errors of immunity, such as SCID. The study, led by Leiden University Medical Center (LUMC), includes the participation of Vall d'Hebron.
The project has received funding from the European Union’s Horizon 2020 research and innovation program under grant agreement No 755170.
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