In a first application of gene therapy for the treatment of Wiskott-Aldrich Syndrome, blood forming bone marrow cells have been corrected by gene transfer in Hannover, Germany.
A team led by Professor Christoph Klein has succeeded in correcting symptoms of this rare, inherited immunodeficiency in 9 out of 10 children in a clinical trial. One patient did not receive a sufficient number of cells, and one patient unfortunately developed an acute T cell leukaemia related to the treatment.
The first symptoms of Wiskott-Aldrich syndrome (WAS) occur in early childhood and include repeated serious infections, pneumonia, bleeding and rashes. WAS patients frequently develop autoimmune diseases, leukaemia or lymphoma, and die of infectious complications when left untreated. Allogeneic blood stem cell (bone marrow) transplantation has been the only therapeutic option thus far. However, this approach requires a genetically matched donor and therefore, has not been available for all patients, and can produce serious side immunological side effects. “Immune complications of allogeneic stem cell transplantation can be quite severe in WAS patients” notes Doctor Kaan Boztug, a researcher in Christoph Klein’s team. The disease is caused by a genetic mutation disturbing the formation of the Wiskott-Aldrich Syndrome protein (WASP). The protein is important for a functional cytoskeleton, which is required for maturation and activation of white blood cells forming the immune system and platelets required for blood clotting. The researchers could demonstrate by several tests that gene transfer can restore cytoskeletal function.
MEDICA.de; Source: Medizinische Hochschule Hannover