World Haemophilia Day: raising awareness, building support
On World Haemophilia Day, Jens Oltrogge reviews the progress made in treating this rare disorder, which causes those with the disease to bleed because of a lack of sufficient clotting factor.
Today is an important time to raise awareness about bleeding disorders and support the people living with them. As a veteran of the biopharmaceutical industry, I am encouraged that the medical community has made important strides in diagnosing and treating people with haemophilia.
Haemophilia is a rare bleeding disorder in which the body lacks sufficient clotting factor, an important protein that controls bleeding. People with severe haemophilia usually bleed frequently into their muscles or joints. They may bleed one to two times per week, often for no apparent reason. People with moderate haemophilia bleed less frequently and may bleed for a long time after surgery, a bad injury, or dental work.
Most of us have never had to worry about experiencing a bleed. But patients with haemophilia have to plan their activities carefully and ensure they have access to the proper treatment if they do experience a bleed. Despite the challenges and frustrations associated with this condition, people with haemophilia can live active and fulfilling lives if they receive the proper diagnosis and treatment.
“The World Federation of Haemophilia estimates that 6.9 million people have a bleeding disorder and 75 per cent of them do not know it”
The World Federation of Haemophilia (WFH) estimates that 6.9 million people have a bleeding disorder and 75 per cent of them do not know it. Diagnosis rates are especially low in developing countries. In 2003 the WFH launched the Global Alliance for Progress (GAP) programme to greatly increase the diagnosis and treatment of people with haemophilia and other bleeding disorders in developing countries. This has had significant impact across country borders.
From 2003-2014 a total of:
• 24 countries enrolled in GAP programme;
• 27,475 patients with haemophilia, 2,900 with Von Willebrand disease (VWD) and 2,554 with rare clotting factor deficiencies have been diagnosed/registered through the GAP programme;
• 12,229 patients, family members, and national member organisation board members received training;
• 17,221 haemophilia treatment centres/healthcare professionals received training;
• 20 national care programmes were established;
• 3.166 billion international units (IUs) cumulative increase in product supply.
The GAP programme has rigorous goals for its next decade of work and broad support from a number of biopharmaceutical companies and government entities, along with medical professionals, advocacy organisations and, of course, patients themselves. It is a tremendous reminder of the progress we can make when we work together.
As with any disease, it’s important to have treatment options. The main goals of treating bleeding disorders are to decrease the frequency and severity of bleeds, prevent long-term complications such as joint deformities and improve patients’ quality of life.
Our understanding of the science behind haemophilia has progressed so much that today an increasing number of companies are focused on developing new treatment options.
In 1952, researchers published the first paper identifying what is now known as haemophilia B. Prior to that the medical community did not distinguish between haemophilia A and B.
Today bleeding disorders are distinguished based on the clotting factor or protein that is deficient or missing altogether. For example, if you have haemophilia A, you’re either missing, or have low levels of, clotting factor VIII. If you have haemophilia B, you’re missing, or have low levels of, clotting factor IX.
There is a trend towards use of recombinant treatments – genetically engineered cells that carry a human factor gene – to ensure sufficient factor levels in the blood. An increasing number of biopharmaceutical companies are developing long-acting therapies, which allow patients to have greater intervals between treatments. While previously they may have needed to infuse several times per week, newer therapies are being developed that can allow patients up to two weeks between treatments.
“Several companies are exploring gene therapy as a way to correct the genes that cause these conditions”
From a quality-of-life perspective, this gives people with haemophilia and their doctors the flexibility to choose a dosing schedule that fits their own personal needs. Furthermore, several companies are exploring gene therapy as a way to correct the genes that cause these conditions in the first place. A recent article in Xconomy highlights the challenges and opportunities that gene therapy holds for people with haemophilia.
There is more work to be done in terms of diagnosing, treatment and support but I am encouraged by the number of organisations and individuals committed to improving the lives of people affected by this rare condition. As WFH describes: ‘A significant amount of care, support, and advocacy is done through extended families which come in many forms: medical teams, friends and colleagues, as well as immediate relatives. These communities share the ability to come together in large numbers and encourage the improvement of the lives of people with a bleeding disorder.’
Together we can, and we will, make a difference.
About the author:
As CSL Behring’s senior director, Global Commercial Development Coagulation, Dr Jens Oltrogge is responsible for CSL Behring’s global coagulation franchise, including its innovative recombinant factor products in development. Dr Oltrogge has a PhD in biology from the Johann-Wolfgang-Goethe University Frankfurt.
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