"Hemophilia has become manageable"
April 17th is the 30th World Hemophilia Day. The therapy has made enormous progress - and further changes are imminent with gene therapy approaches, explains hemophilia expert Prof. Dr. Barbara Zieger from the University Medical Center Freiburg.
It was considered a disease of royalty: hemophilia, also known as bleeding disorder, used to be widespread in the European aristocracy. In this hereditary disease, blood clotting is disturbed. The consequences: internal bleeding, damaged joints and danger to life even from minor injuries. "We experienced a real turning point 30 years ago with the introduction of preventative, prophylactic therapy for children. Previously, we could only alleviate the symptoms. The therapy is now so good that hemophilia has become manageable in many cases," says Prof. Dr. Barbara Zieger, Head of the Section for Pediatric Hemostaseology at the Center for Pediatric and Adolescent Medicine at the Freiburg University Medical Center. "Therapy is currently changing again and we can already see gene therapies on the horizon that could completely change treatment," says Prof. Zieger.
Haemophilia: from a death sentence to a chronic disease
In haemophilia, blood clotting is impaired because the body does not produce factor VIII or factor IX clotting factors, or produces them in insufficient quantities. As a result, wounds do not close or only close slowly. Bleeding can also occur spontaneously. Bleeding into the joints is common, leading to severe osteoarthritis and severe pain. Around one in 10,000 male newborns suffers from the hereditary disease. As hemophilia is inherited X-linked, it mostly affects boys.
At the end of the 1980s, a new form of therapy was introduced for children with severe haemophilia. Prophylactic therapy involves injecting the missing clotting factor into the blood of those affected several times a week. The coagulation factors are obtained from donor blood or produced using genetic engineering. The majority of young and adult patients are now benefiting from the therapy. "That was a real turning point. Today, hemophilia patients can lead a relatively normal life and their life expectancy is comparable to that of the average population," says Prof. Zieger, who has been researching the genetic causes of coagulation diseases for more than 20 years. She has already won several research prizes for her work, most recently the Günter Landbeck Excellence Award 2018, which is endowed with 25,000 euros.
Milestones in therapy
The researchers soon got to grips with initial problems caused by virus-contaminated infusions. However, some patients develop an immune reaction against the foreign coagulation factors. Experts refer to this as inhibitor hemophilia. A drug recently launched on the market, a so-called bidirectional antibody, now works in a similar way to natural factor VIII, but has a completely different form. This means that it is not attacked by the immune system's factor VIII antibody.
The broken gene is to be replaced in the future
However, researchers around the world are already working on an alternative: gene therapy. This involves introducing a healthy variant of the gene responsible for the coagulation factor into the liver cells. The cells then produce the clotting factor in sufficient quantities again. "Such a therapy is currently being investigated in studies and should become a reality in the next five years," says Prof. Zieger. Based on previous experience, the researchers hope that those affected will be free from therapy for at least 15 years. Some questions are still unanswered: "We don't know how effective the therapy will be in children or how long it will work? We urgently need to research this intensively," says Prof. Zieger.
The Department of Pediatric Hemostaseology at the Freiburg University Medical Center is the point of contact for children and adolescents with coagulation disorders. Adults can contact the coagulation outpatient clinic of the Department of Internal Medicine I (focus: haematology, oncology and stem cell transplantation) at the University Medical Centre Freiburg under the direction of senior physician Dr. Jürgen Heinz.
Contact:
Prof. Dr. Barbara Zieger
Head of the Section for Pediatric Hemostaseology
Center for Pediatric and Adolescent Medicine
University Medical Center Freiburg
Phone: 0761 270-44790
barbara.zieger@uniklinik-freiburg.de
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