Fanconi Anemia is a rare genetic disease affecting blood stem cells and leads to bone marrow failure, congenital abnormalities and a predisposition to cancer. The hematopoietic cell transplantation is the only treatment, but the unsatisfactory side effects.
The proposed treatment is a gene therapy approach for patients with mutations in the gene encoding Fanc-A (65% of patients).
The approach is to restore the activity Fanc-A due to faulty gene transfer into hematopoietic stem cells of the patient using a lentiviral vector regulated.
This project is in collaboration with the team of J.Bueren (CIEMAT, Madrid), and will be initially conducted in Spain with Professor Juan Sevilla (Hospital del Nino Jesus, Madrid).
Subsequently, Genethon will be part of the European consortium Eurofancolen to conduct a multicenter European trial for this pathology.
The gene therapy vector was be produced at Genethon.