Hemophilia B is a rare, inherited bleeding disorder that prevents blood from clotting properly and puts those who suffer from it in grave danger of life-threatening complications from simple grazes or bruising.
University of California San Diego Health now offers a brand-new gene therapy that may change the playing field for sufferers of hemophilia B forever. The FDA-approved therapy is a one-time infusion that leads to reduced bleeding and elevated levels of clotting factors in the blood.
People with the disease experience prolonged bleeding after injuries or surgery, or can have bleeding that starts without cause, nosebleeds, large bruises, and blood in the urine or stool.
Long-term symptoms can include joint and muscle damage, pain or restricted mobility, as well as brain bleeds that can lead to seizures, paralysis and blindness.
Hemophilia B is an inherited bleeding disorder where affected people have insufficient levels of a blood protein called Factor IX, a specialized protein needed for blood clotting, according to the National Organization for Rare Disorders.
The disease primarily affects men, because the deficiency is caused by a gene mutation on the X chromosome. Although often considered a rare disease, hemophilia B affects roughly one in 20,000 people worldwide, while the more common hemophilia A affects one in 5,000.
According to the Center for Disease Control and Prevention, more than 1,000 people in California live with hemophilia A or B.
The current, standard treatment for hemophilia B involves injecting a commercially prepared clotting factor concentrate into their bloodstream.
Patients are taught how to self-administer their treatment, and depending on health and lifestyle factors, the average patient treats themselves every two to three days, according to the East Carolina University Hemophilia Treatment Center.
The new treatment, conducted by UCSD’s Center for Bleeding and Clotting Disorders, involves a one-time infusion of a gene therapy medicine called Hemgenix, which contains a modified virus carrying a functional copy of the factor IX gene.
The virus carries the functional copy to the patient’s liver cells where replication then begins outside the cells leading to increased production of the factor IX protein. Post-infusion, the body begins clotting normally, leading to a reduction in bleeding, according to the CBCD.
The new option replaces the typical treatment of at-home infusion, allowing patients with hemophilia to forgo almost daily self-infusions, according to a UCSD Health release.
In May 2024, UCSD Health conducted the first patient infusion of the gene therapy, and since then they reported the patient no longer requires treatment at home and is doing well after years of living with bleeding and joint pain.
The results are aligned with previous exploratory international studies that showed elevated levels of clotting factors in patient blood up to five years after infusion, according to UCSD Health. Some trial participants experienced mild side effects, such as chills or fever, and 17% of patients required steroid treatment for abnormal liver function tests.
“It is incredibly rewarding to see just how life changing this treatment can be for patients who have gone through home infusions, joint pain and bleeding for years,” said Annette von Drygalski, director of the CBCD.
According to the National Institutes of Health, the life expectancy of people with severe hemophilia in the 1950s and 1960s, before the development of factor concentrates, was only 11 years.
Today, life expectancy is equal to the general population. However, many patients continue to struggle with chronic joint pain and damage from internal bleeding, as well as reduced lifestyle options and mental health concerns.
The CBCD said it is currently working to move forward with treatment for additional patients, who must be at least 18 years old, have moderately severe to severe hemophilia B and able to pass liver health and lifestyle screenings to be eligible.
UCSD Health is the only hemophilia B treatment center in San Diego that administers Hemegenix. There are seven in California.
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