Many PicnicHealth users have serious blood disorders like hemophilia that impact nearly all aspects of their lives. While many people with hemophilia have learned to carefully manage their condition, there continues to be a need for research into new therapies and treatments for their symptoms, as well as a hope that someday there may be a cure for hemophilia.
What is Hemophilia?
Hemophilia is a disease characterized by the blood’s inability to clot correctly. People with hemophilia have blood that lacks enough of the necessary blood-clotting proteins or factors that stop them from bleeding in the event of an injury. Internal bleeding is a severe problem for hemophiliacs, especially if the bleeding takes place around the knees, ankles, and elbows. This can lead to severe damage in the internal organs, as well as the delicate tissues of the body, leading to what could be fatal situations.
Hemophilia cannot be “caught,” and it’s not contagious. It’s a genetic disorder, which means that people who have the genetic disposition to the disease are more likely to develop it. Genetic testing can determine if a person has a higher risk of developing the condition, especially if they have family members who have already been diagnosed with the disease. Throughout the years, the medical world has gotten better in diagnosing the disease, and have taken steps to improve the treatment provided to the people with it.
Advancements in Treatment for Hemophilia
For decades, researchers have worked to develop more novel and effective means to treat hemophiliacs. They have improved ways to mimic or replace the missing clotting proteins.
Emicizumab is one of the humanized bispecific antibodies that have been developed to treat hemophilia this way. It mimics the activity of the protein FVIII, binding itself to activated coagulation FIX and factor X. It was approved by the FDA as hemophilia treatment in 2017 to treat patients with Hemophilia A. About 25-40% of patients with this type of hemophilia can no longer receive FVIII as the therapy itself, and emicizumab enables them to have a lifesaving treatment that they need. According to doctors, the drug makes a patient previously suffering from severe hemophilia seem more as though they had a milder form of it.
Turoctocog alfa pegol is another recently approved drug. Also known as N8-GP or Esperoct, it extends the lifespan of FVIII during prophylaxis. This leads to a reduction of bleeding episodes and on-demand treatment. After evaluating Hemophilia A patients who have taken the procedure, the drug proved that it is an effective, fixed-dosed regimen for adults and adolescents with hemophilia, resulting in improved quality of life.
Another new development is a promising form of gene therapy. Gene therapy has been one of the conventional means of treating hemophilia, as it introduces genetic material to cells to make up for an abnormal gene or a missing much-needed protein in the body. The new gene therapy uses genetically reprogrammed cells derived from hemophilia A patients that have been grafted onto hemophiliac mice in preliminary studies. The reprogrammed cells restored proper blood levels of FVIII and improved clotting. Should the treatment prove similarly beneficial to humans, it won’t just be an effective hemophilia treatment, but also be useful as a long-term blood protein replacement.
This work by researchers has led to more significant strides in treating hemophilia. Hopefully treatments like these can help people with this disease can experience better clotting, improved quality of life, and a better outlook on their future with fewer risks.
PicnicHealth also supports research on hemophilia by structuring real-world evidence datasets from anonymized medical records of real people living with hemophilia in the real world. Visit PicnicHealth.com to sign up for a free PicnicHealth account and contribute to research if you have hemophilia.