Chronic granulomatous disease (CGD) is a hereditary immune deficit which is transmitted by an autosomal recessive or X-linked mode of inheritance. It is due to a deficit in the NADPH oxidase enzme, which causes an alteration in the activity of white blood cells which makes them incapable of destroying microorganisms (bacteria, fungi, etc) which penetrate the organism. Chronic granulomatous disease is thus characterized by the occurrence of severe, recurrent and deep infections from birth, which are resistant to treatment, and a hyperinflammation which causes the formation of granulomas and leads to tissue complications.
Gene therapy clinical trial for patients with mutations in the gene coding for gp91phox(3/4 of CGD patients)
- Reference laboratory: Genethon
- Partners: Great Ormond Street Hospital, London; Hopital Necker-Enfants Malades, Paris; University Hospital, Frankfurt; Children’s Hospital of Zurich
The approach consists in restoring the activity of the defective NAPDH oxidase in the phagocytic cells of the patient (neutrophils, monocytes/macrophages) via transfer of the gene into hematopoietic stem cells of the patient, using a regulated lentiviral vector.
The multicentric international gene therapy trial will start in 2013 in 4 European countries (Germany, Great Britain, France, Switzerland).