Hemophilia and other bleeding disorders are rare genetic conditions that affect the body’s ability to properly form blood clots. People with these conditions often face challenges in accessing appropriate care and treatment. This is true not only in developed countries but also in low- and middle-income countries around the world.
One of the biggest access to care issues for people with hemophilia and bleeding disorders is the availability of specialized treatment centers. These centers are typically located in urban areas and offer comprehensive care, including access to clotting factor replacements and other necessary treatments. However, in many parts of the world, especially in rural and underserved areas, these centers are lacking or non-existent.
In addition to the lack of specialized care centers, there is also a shortage of trained health care providers who are knowledgeable about hemophilia and bleeding disorders. This can lead to misdiagnosis, incorrect treatment, and poor management of the condition. In some cases, people with bleeding disorders may not even be aware that they have the condition, as it has not been properly diagnosed.
Another access to care issue for people with hemophilia and bleeding disorders is the cost of treatment. Clotting factor replacements, which are the mainstay of treatment for these conditions, can be extremely expensive. This cost can be a major barrier for many patients, especially in countries where health care is not universally or adequately covered by insurance or government programs.
Furthermore, in many countries, there is a lack of access to safe blood products, which are necessary for the treatment of bleeding disorders. Blood products must be screened and tested for infectious diseases to prevent the spread of blood-borne illnesses. In some regions, however, there is a shortage of safe blood products, putting patients at risk of contracting infections such as HIV or hepatitis.
Addressing access to care issues for people with hemophilia and bleeding disorders requires a multi-faceted approach. Governments and health care organizations must invest in expanding and improving specialized treatment centers, training health care providers, and ensuring the availability of safe and affordable blood products. Patient advocacy groups also play an important role in raising awareness about these conditions and advocating for better access to care.
Overall, improving access to care for people with hemophilia and bleeding disorders globally is essential to ensuring that all patients receive the treatment and support they need to manage their condition effectively and live healthy, fulfilling lives. By working together to address these access care issues, we can make a positive impact on the lives of people with hemophilia and bleeding disorders worldwide.
In 2024, there have been significant advancements in the treatment options available for patients with hemophilia. One of the most promising developments is the emergence of gene therapies for hemophilia, which aim to address the underlying genetic cause of the condition. Gene therapy involves delivering a functional copy of the deficient clotting factor gene to the patient’s cells, allowing them to produce the missing clotting factor on their own. This approach has shown great promise in clinical trials, with some patients achieving sustained levels of clotting factor and reduced bleeding episodes.
In addition to gene therapy, rebalancing agents are being developed for the treatment of hemophilia. These agents work by rebalancing the body’s natural clotting processes, helping to restore the balance between clotting factors and inhibitors in the blood. This can be particularly beneficial for patients with inhibitors who have developed antibodies that interfere with the effectiveness of traditional clotting factor replacement therapy.
Overall, the introduction of gene therapies and rebalancing agents offers new hope for patients with hemophilia. These treatments provide potentially curative treatment options that could significantly improve their quality of life and reduce the frequency of bleeding episodes. As these treatments continue to be developed and refined, they have the potential to revolutionize the standard of care for hemophilia patients in the coming years.
There are several gene therapies for hemophilia that have been developed and are currently in various stages of clinical trials. Some of the notable gene therapies for hemophilia include:
Gene therapy
Valoctocogene roxaparvovec (Valrox): Developed by BioMarin, Valrox is a gene therapy for hemophilia A that delivers a functional copy of the Factor VIII gene to liver cells, allowing them to produce the missing clotting factor.
Etranacogene dezaparvovec (AMT-061): Developed by uniQure, AMT-061 is a gene therapy for hemophilia B that delivers a functional copy of the Factor IX gene to liver cells, enabling them to produce the deficient clotting factor.
SPK-9001: Developed by Spark Therapeutics (now part of Roche), SPK-9001 is a gene therapy for hemophilia A that delivers a modified version of the Factor VIII gene to liver cells, promoting the production of the missing clotting factor.
Fidanacogene elaparvovec-dzkt: Newly approved gene therapy for adults with hemophilia B using the high efficacy Padua variant. Like AMT -061 above, severe transaminitis (liver enzyme elevation) was the most frequently reported side effect post-gene therapy, with many of those patients then needing to be on steroid supplementation.
These gene therapies have shown promising results in clinical trials, with some patients achieving sustained levels of clotting factor and reducing bleeding episodes. While these therapies are not yet widely available for routine clinical use, their development represents a significant advancement in the treatment of hemophilia and offers hope for improved outcomes for patients with this condition.
Extended half-life clotting factors
Traditional clotting factor replacement therapies often require frequent injections to maintain adequate levels of clotting factors in the blood. Extended half-life clotting factors are modified versions of clotting factors that stay in the bloodstream longer, reducing the frequency of injections needed. The most recent remarkable product to hit the market has been Biv001, approved for use for people with hemophilia for once-a-week intravenous therapy. These factors have significantly reduced the injections per year from approximately 110-120 per year to 48-50, which is roughly a reduction of more than 50 percent exposures or injections, thus significantly improving quality of life, albeit significantly expensive.
Non-factor therapies
These include drugs that mimic the function of clotting factors or target other aspects of the clotting cascade to promote clot formation. Emicizumab is one example that works by mimicking the function of factor VIII and has shown efficacy in reducing bleeding episodes in patients with hemophilia A, including those with inhibitors. Other molecules in advanced-stage clinical trials help “rebalance” coagulation using targets like Antithromboin, Tissue Factor Plasmaminogen Inhibitor (TFPI), Serpin PC (Protein C), etc.
Inhibitor management
Managing inhibitors (antibodies that neutralize clotting factors) remains a challenge in hemophilia treatment. Various immune tolerance induction (ITI) protocols and novel therapies, such as bispecific antibodies targeting both factor IXa and factor X, are being investigated to address this issue.
Akshat Jain is a pediatric hematology-oncology physician.
