Hemophilia treatment
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Although no cure for hemophilia is currently available, a number of therapies can be used to control bleeding and other symptoms. These treatments can substantially increase life expectancy by lowering the risk of life-threatening complications such as bleeding in the brain, especially in people with severe hemophilia.
Hemophilia is caused by the lack of certain clotting factors, which are proteins normally needed for blood to clot. Factor replacement therapies, which involve administering a working version of the missing clotting protein, are generally considered the gold standard for hemophilia.
Other medications that help the blood to clot may also be used in some cases. Recently, one-time gene therapies for hemophilia have become available.
Factor replacement therapies
In hemophilia, certain blood clotting factors are missing — factor VIII (FVIII) in the case of hemophilia type A, factor IX (FIX) in hemophilia type B, and factor XI (FXI) in hemophilia type C. Without a working version of these proteins, blood doesn’t clot properly, placing patients at an increased risk of excessive and prolonged bleeding.
Factor replacement therapies contain a working version of a clotting factor that can replace the missing protein in people with hemophilia types A or B. These treatments, which are administered intravenously, or directly into the bloodstream, may be given routinely as prophylaxis to prevent and lower the risk of bleeds, or used in an on-demand basis to control active bleeding episodes.
Some factor replacement therapies are plasma-derived, meaning they contain clotting factor proteins that are isolated from the blood of people without hemophilia. Other therapies contain recombinant, or lab-made, versions of these proteins.
Available factor replacement therapies can be broadly divided into standard or extended half-life therapies, depending on the amount of time they remain in circulation in the body. Of note, half-life refers to the time it takes for the levels of a medicine or a compound to drop to half of those originally administered, so the longer the half-life, the longer a therapy will remain in circulation.
Standard half-life therapies
Standard half-life therapies contain versions of clotting factors that are similar to the forms normally produced in people without hemophilia. Since naturally-occurring clotting factors generally don’t last long in the bloodstream, these therapies usually need to be administered more often than extended half-life products.
Approved standard half-life therapies for hemophilia A include:
- Advate (octocog alfa)
- Afstyla (lonoctocog alfa)
- Kovaltry (octocog alfa)
- Nuwiq (simoctocog alfa)
- Recombinate (antihemophilic factor recombinant)
- Xyntha (moroctocog alfa)
Approved standard half-life therapies for hemophilia B include:
Additionally, the pig-derived factor replacement therapy Obizur (susoctocog alfa) is specifically approved for acquired hemophilia A.
Extended half-life (EHL) therapies
Extended half-life, or EHL, therapies contain versions of clotting factors that have undergone molecular modifications, such as albumin fusion, Fc fusion, or PEGylation. These modifications extend the time clotting proteins remain active in the body, allowing these therapies to be administered less frequently than standard half-life therapies.
Approved EHL therapies for hemophilia A include:
- Altuviiio (efanesoctocog alfa)
- Adynovate (rurioctocog alfa pegol)
- Eloctate (efmoroctocog alfa)
- Jivi (damoctocog alfa pegol)
- Esperoct (turoctocog alfa pegol)
Approved EHL treatments for hemophilia B include:
Nonfactor replacement therapies
In addition to factor replacement therapies, other medications that promote blood clotting through mechanisms that do not involve replacing the missing clotting factors may be used to help manage bleeding in hemophilia.
Hemlibra (emicizumab)
Hemlibra (emicizumab) is an antibody that promotes blood clotting by mimicking the normal function of FVIII, the clotting protein that is missing in patients with hemophilia A. The therapy, which is given as an under-the-skin, or subcutaneous, injection is approved in the U.S. for hemophilia A patients with or without inhibitors, and may be used as an alternative to traditional factor replacement therapies.
Hympavzi (marstacimab)
Hympavzi (marstacimab-hncq) is an antibody-based therapy that promotes blood clotting by blocking the activity of a protein that normally prevents the formation of blood clots. Administered via a once weekly subcutaneous injection, Hympavzi is approved in the U.S. to prevent or reduce the frequency of bleeding episodes in adults and children with hemophilia A or B without inhibitors.
DDAVP (desmopressin)
DDAVP (desmopressin) is an artificial form of a hormone naturally produced in the body that works by increasing the levels of certain clotting factors, including FVIII. It may be used to manage bleeds in people with mild or moderate hemophilia A. When used for this indication, DDAVP is administered via an intravenous infusion.
Antifibrinolytics
Antifibrinolytics are medications that stop blood clots from breaking down, thereby helping to prevent excessive bleeding. These medicines, including Cyklokapron (tranexamic acid) and Amicar (aminocaproic acid), may be used to manage nosebleeds, bleeds related to dental work, or heavy menstrual periods in those with hemophilia and other bleeding disorders. Antifibrinolytics may be given orally or intravenously.
Bypassing agents
Although factor replacement therapies can be effective for controlling bleeds in hemophilia, sometimes the body’s immune system can mistake the delivered clotting factors for an infectious invader. When this happens, immune cells produce neutralizing antibodies, called inhibitors, that target those clotting factors, preventing them from working properly.
As the name suggests, bypassing agents are treatments that bypass the need for conventional clotting factor treatment by promoting blood clotting through mechanisms that aren’t dependent on the specific proteins that are missing or being targeted by inhibitors in people with hemophilia. For this reason, bypassing agents can be used as an alternative to conventional factor replacement therapies in patients who have developed inhibitors.
Bypassing agents approved in the U.S. for people with hemophilia A or B who have inhibitors include:
- FEIBA (factor eight inhibitor bypassing activity)
- NovoSeven RT (eptacog alfa [activated])
- Sevenfact (eptacog beta)
These medications, which are administered intravenously, may be used for rare acquired forms of hemophilia, where low factor levels are caused by an autoimmune reaction, rather than a genetic mutation.
Gene therapy for hemophilia
Nearly all cases of hemophilia are caused by mutations in genes that provide instructions for making clotting factor proteins. The overarching idea behind gene therapy is to deliver a healthy version of the defective gene to body cells, typically with the aid of certain viral vectors, to restore the body’s ability to produce its own functional clotting factor.
Roctavian (valoctocogene roxaparvovec-rvox) is a one-time gene therapy designed to deliver a shorter, but functional version of the gene encoding FVIII to cells in the liver with the help of a harmless adeno-associated virus called AAV5. It’s administered via a single intravenous infusion and is currently approved in the U.S. for adults with severe hemophilia A who have no detectable AAV5 antibodies.
The gene therapy Hemgenix (etranacogene dezaparvovec) uses the same AAV5 viral vector to deliver a gene encoding a highly active form of FIX to liver cells. The therapy, given as a one-time intravenous infusion, was approved in the U.S. in late 2022 for people with hemophilia B who are on prophylaxis or have (or have had) life-threatening bleeds or repeated, serious spontaneous bleeding episodes.
Similarly to Hemgenix, Beqvez (fidanacogene elaparvovec-dzkt) also is designed to deliver a gene encoding a highly active form of FIX to patient cells. The therapy specifically uses a viral carrier that contains a recombinant, or lab-made, outer shell, known as AAVRh74var capsid, which helps Beqvez be taken up by liver cells. The therapy, also administered via an one-time intravenous infusion, was approved in the U.S. in April 2024 for certain adults with moderate to severe hemophilia B.
Fresh frozen plasma
Plasma, the non-cellular component of blood, includes most of the proteins needed for blood clotting. Fresh frozen plasma was considered a mainstay treatment for hemophilia A and B in the 1950s and 1960s. However, this type of treatment had some disadvantages, including the fact that large amounts of plasma containing small amounts of FVIII and FIX had to be intravenously administered to patients to stop bleeds. With the development and availability of new therapies, including clotting factor concentrates, the use of fresh frozen plasma has declined significantly.
Currently, it is still one of the main methods to manage bleeding in people with hemophilia C in the U.S., since FXI replacement therapies are not available in the country.
Hemophilia News Today is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.
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