This very rare type of primary immunodeficiency is caused by a mutation in the Artemis gene, and is characterized by a complete absence of T and B lymphocytes, together with increased cell sensitivity to ionizing radiation. Currently, the only available treatment is a bone marrow transplant. However, gene therapy involving a gene transfer into the patient’s hematopoietic stem cells could represent an alternative.
The research program involves developing a lentiviral vector that can express sufficient and non-toxic levels of Artemis into the stem cells and the patient’s immune system. Genethon is in charge of the preclinical studies and of producing the clinical-grade vector, working in collaboration with Prof. Hacein-Bey and Prof. Cavazzana-Calvo (CIC Biotherapie, Hôpital Necker-Enfants Malades), with the financial backing of INSERM/DGOS.