The latest in hemophilia treatment: New techniques, new research

China has taken a major step forward in tackling rare diseases. The National Medical Products Administration (NMPA) recently approved BBM-H901, the country's first gene therapy for hemophilia B, offering a potentially life-changing option for patients.

Developed by Shanghai-based Belief BioMed Inc., the one-time injectable therapy is designed for adult patients with moderate to severe symptoms. The treatment uses an adeno-associated virus (AAV) vector to deliver a functional copy of the factor IX gene into liver cells. This enables the patient's body to produce the missing clotting protein internally.

A quick guide of hemophilia 

Hemophilia is a rare inherited disorder that impairs the blood's ability to clot. It is caused by stems from mutations on the X chromosome, leading to deficiencies in critical clotting factors. There are two main forms: hemophilia A is caused by a lack of factor VIII and accounts for most cases, while hemophilia B, caused by a deficiency in factor IX, makes up 15 to 20 percent of cases.

Because the defective gene is carried on the X chromosome, hemophilia primarily affects males. Females, who carry two X chromosomes, are often asymptomatic carriers, while males with the mutation typically experience full-blown symptoms. Individuals with hemophilia are at heightened risk of uncontrolled bleeding from minor injuries, and sometimes spontaneously. Without consistent treatment, repeated bleeding into joints and muscles can result in chronic pain, disability or life-threatening complications.

Despite its relatively low global prevalence, hemophilia represents a significant public health challenge. According to the World Federation of Hemophilia's 2023 global survey, more than 270,000 people worldwide live with the disorder. In China, over 40,000 cases of hereditary bleeding disorders had been registered across 286 centers as of late 2023.

Major treatment methods

In recent years, hemophilia care has gained increasing attention under the Healthy China Initiative, a national strategy to improve public health outcomes. Previously, treatment in China was largely limited to on-demand care or low-dose preventive therapy. Today, the country is transitioning toward high-dose prophylaxis and individualized treatment plans, which help reduce complications and improve quality of life.

Conventional treatments for hemophilia rely heavily on clotting factor replacement therapy. This involves frequent intravenous infusions of the missing factor – an approach that, while effective, can be both burdensome and costly. Moreover, some patients develop antibodies, that render replacement therapy less effective.

Newer non-factor therapies aim to address these challenges by extending the interval between doses and minimizing immune reactions. However, it is gene therapy that holds the greatest promise for a long-term solution. Unlike traditional therapies that manage symptoms, gene therapy tackles the root cause by delivering functional genes into the body, enabling stable, internal production of the missing clotting factor.

Gene therapies have progressed rapidly over the past decade, particularly for rare genetic conditions. Since 2012, AAV-based gene therapies have received regulatory approval for conditions such as lipoprotein lipase deficiency (LPLD), spinal muscular atrophy (SMA) and Duchenne muscular dystrophy (DMD). These therapies have proven that replacing or correcting defective genes can yield dramatic improvements in patient health.

In the field of hemophilia, three gene therapies have gained regulatory approval globally: BioMarin Pharmaceutical's ROCTAVIAN for hemophilia A, CSL Behring's HEMGENIX and Pfizer's BEQVEZ for hemophilia B. Each of these therapies comes with a hefty price tag, typically exceeding $2.9 million per dose. In February, Pfizer announced that it is stopping the development and commercialization of BEQVEZ, citing weak demand.

The approval of BBM-H901 marks a new chapter in China's approach to rare disease care and genomic medicine. While affordability and long-term efficacy remain key areas of focus, the therapy's arrival represents a meaningful step toward more accessible, innovative treatment for patients with hemophilia.