New perspectives for hemophilia patients – promising therapies are on their way!
The disease is caused by a genetic defect leading to a disturbed formation of the blood clotting factor IX in liver cells. Affected persons suffer from external as well as internal bleeding events with an increased probability and frequency compared to healthy individuals. So far, most available treatment options are based on the intravenous infusion of recombinant factor IX protein products and are either administered in a prophylactic manner or when needed to counteract reoccurring bleeding events.
Under the banner of Spark Therapeutics in collaboration with Pfizer, initial but very promising results of the open-label phase 1/2 interventional study have been published in the New England Journal of Medicine (Vol. 377 No. 23). A novel therapy, a so-called gene therapy (for further information see our blog Gene therapy in Germany – innovation vs. reimbursement) specifically addresses the underlying cause of this hereditary disease. In general, some physicians consider such therapies as potential cures for many inherited diseases. Spark´s therapy aims at the delivery of the human factor IX gene into liver cells with the use of a recombinant single-stranded adeno-associated virus (AAV) (SPK-9001, Spark Therapeutics), following the potentially lifelong production of the coagulation factor within these cells. The study report just recently highlighted the results, showing increased levels of factor IX in the 10 hemophilia B male patients that were enrolled, in addition to a reduction of bleeding events after administration of a single AAV infusion. Moreover, aims of the study are to evaluate the safety and kinetics of a single infusion of the AAV-based gene therapy vector as well as the continuous production of factor IX.
Despite the very encouraging results, a prolonged monitoring of a larger number of patients is highly recommended to assess the efficacy, safety and sustained effect of such therapies. Furthermore, other companies such as Bayer and Crispr Therapeutics are seeking to develop new gene therapies to treat hemophilia, using genome editing technologies (e.g. genome editing using TALEN and CRISPR/Cas9, for further information see blog Modifying our DNA – how far have ZFNs, TALENs and CRISPR/Cas9 therapies approached into clinics?). With this they are implementing highly innovative molecular tools of which a lot can be expected within the next few years.
SKC Beratungsgesellschaft mbH is continuously focusing on new technologies and innovative therapeutic approaches. With our knowledge in the field of gene therapy, we are able to open up new avenues and provide strategic support in corporation with our existing and future clients at an early stage.
BY Prof. Matthias P. Schönermark, M.D., Ph.D., Founder and Managing Director, SKC Beratungsgesellschaft mbH
Sources:
hemophilia.org - types of bleeding disorders
Handelsblatt - Biotech-Firmen treiben Gentherapie voran: Neue Hoffnung für Bluter-Kranke
George, L.A.: Hemophilia B Gene Therapy with a High-Specific-Activity Factor IX Variant (N Engl J Med 2017)
clinicaltrials.gov - A Gene Therapy Study for Hemophilia B