Recent Advances in Hemophilia Treatment: Exploring Innovative Techniques and Research
China has made significant advancements in addressing rare diseases with the recent approval of BBM-H901, the nation’s first gene therapy for hemophilia B, by the National Medical Products Administration. This development offers a potentially...
TroibNews 
China has made significant advancements in addressing rare diseases with the recent approval of BBM-H901, the nation’s first gene therapy for hemophilia B, by the National Medical Products Administration. This development offers a potentially transformative option for patients suffering from this condition.
BBM-H901, developed by Shanghai-based Belief BioMed Inc., is a one-time injectable treatment aimed at adult patients experiencing moderate to severe symptoms. The therapy utilizes an adeno-associated virus vector to introduce a functional copy of the factor IX gene into liver cells, allowing the patient’s body to internally produce the missing clotting protein.
### A Quick Guide to Hemophilia
Hemophilia is a rare inherited disorder that hinders the blood's ability to clot. It arises from mutations on the X chromosome, leading to deficiencies in essential clotting factors. There are two primary forms: hemophilia A, which is caused by a lack of factor VIII and constitutes the majority of cases, and hemophilia B, resulting from a deficiency in factor IX, accounting for 15 to 20 percent of occurrences.
The defective gene is found on the X chromosome, which means hemophilia primarily affects males. Females possess two X chromosomes and are often asymptomatic carriers, while males with the mutation generally display the full spectrum of symptoms. Individuals with hemophilia have an increased risk of uncontrolled bleeding, even from minor injuries or spontaneously. Without ongoing treatment, repeated bleeding episodes into joints and muscles can lead to chronic pain, disability, or even life-threatening complications.
Despite its relatively low prevalence globally, hemophilia poses a considerable public health challenge. The World Federation of Hemophilia’s 2023 global survey indicates that over 270,000 individuals worldwide live with this disorder. In China, more than 40,000 cases of hereditary bleeding disorders had been reported across 286 centers by late 2023.
### Major Treatment Methods
In recent times, hemophilia care has been gaining more attention as part of the Healthy China Initiative, a national strategy aimed at enhancing public health outcomes. Historically, treatment in China primarily consisted of on-demand care or low-dose preventive therapy. Currently, the country is shifting towards high-dose prophylaxis and personalized treatment plans to reduce complications and enhance the quality of life for patients.
Traditional treatments for hemophilia focus largely on clotting factor replacement therapy, which requires frequent intravenous infusions of the missing factor. While effective, this approach can be burdensome and expensive. Furthermore, some patients develop antibodies that diminish the effectiveness of replacement therapy.
Emerging non-factor therapies seek to mitigate these issues by prolonging the interval between doses and reducing immune reactions. However, gene therapy presents the most promising long-term solution. Unlike conventional treatments that manage symptoms, gene therapy addresses the root cause by delivering functional genes to facilitate stable, internal production of the requisite clotting factor.
The past decade has seen rapid advancements in gene therapies for rare genetic conditions. Since 2012, AAV-based gene therapies have gained regulatory approval for various disorders, including lipoprotein lipase deficiency, spinal muscular atrophy, and Duchenne muscular dystrophy. These therapies have demonstrated that replacing or correcting defective genes can lead to remarkable improvements in patient health.
In the realm of hemophilia, three gene therapies have received global regulatory approval: BioMarin Pharmaceutical's ROCTAVIAN for hemophilia A, CSL Behring's HEMGENIX, and Pfizer's BEQVEZ for hemophilia B. Each of these therapies is accompanied by a significant price tag, usually exceeding $2.9 million per dose. Notably, in February, Pfizer announced it would halt the development and commercialization of BEQVEZ due to weak demand.
The approval of BBM-H901 signifies a new era in China’s approach to treating rare diseases and advancing genomic medicine. While affordability and long-term efficacy are critical points of focus, the introduction of this therapy is a significant milestone towards more accessible and innovative treatment options for hemophilia patients.
Anna Muller contributed to this article for TROIB News
BBM-H901, developed by Shanghai-based Belief BioMed Inc., is a one-time injectable treatment aimed at adult patients experiencing moderate to severe symptoms. The therapy utilizes an adeno-associated virus vector to introduce a functional copy of the factor IX gene into liver cells, allowing the patient’s body to internally produce the missing clotting protein.
### A Quick Guide to Hemophilia
Hemophilia is a rare inherited disorder that hinders the blood's ability to clot. It arises from mutations on the X chromosome, leading to deficiencies in essential clotting factors. There are two primary forms: hemophilia A, which is caused by a lack of factor VIII and constitutes the majority of cases, and hemophilia B, resulting from a deficiency in factor IX, accounting for 15 to 20 percent of occurrences.
The defective gene is found on the X chromosome, which means hemophilia primarily affects males. Females possess two X chromosomes and are often asymptomatic carriers, while males with the mutation generally display the full spectrum of symptoms. Individuals with hemophilia have an increased risk of uncontrolled bleeding, even from minor injuries or spontaneously. Without ongoing treatment, repeated bleeding episodes into joints and muscles can lead to chronic pain, disability, or even life-threatening complications.
Despite its relatively low prevalence globally, hemophilia poses a considerable public health challenge. The World Federation of Hemophilia’s 2023 global survey indicates that over 270,000 individuals worldwide live with this disorder. In China, more than 40,000 cases of hereditary bleeding disorders had been reported across 286 centers by late 2023.
### Major Treatment Methods
In recent times, hemophilia care has been gaining more attention as part of the Healthy China Initiative, a national strategy aimed at enhancing public health outcomes. Historically, treatment in China primarily consisted of on-demand care or low-dose preventive therapy. Currently, the country is shifting towards high-dose prophylaxis and personalized treatment plans to reduce complications and enhance the quality of life for patients.
Traditional treatments for hemophilia focus largely on clotting factor replacement therapy, which requires frequent intravenous infusions of the missing factor. While effective, this approach can be burdensome and expensive. Furthermore, some patients develop antibodies that diminish the effectiveness of replacement therapy.
Emerging non-factor therapies seek to mitigate these issues by prolonging the interval between doses and reducing immune reactions. However, gene therapy presents the most promising long-term solution. Unlike conventional treatments that manage symptoms, gene therapy addresses the root cause by delivering functional genes to facilitate stable, internal production of the requisite clotting factor.
The past decade has seen rapid advancements in gene therapies for rare genetic conditions. Since 2012, AAV-based gene therapies have gained regulatory approval for various disorders, including lipoprotein lipase deficiency, spinal muscular atrophy, and Duchenne muscular dystrophy. These therapies have demonstrated that replacing or correcting defective genes can lead to remarkable improvements in patient health.
In the realm of hemophilia, three gene therapies have received global regulatory approval: BioMarin Pharmaceutical's ROCTAVIAN for hemophilia A, CSL Behring's HEMGENIX, and Pfizer's BEQVEZ for hemophilia B. Each of these therapies is accompanied by a significant price tag, usually exceeding $2.9 million per dose. Notably, in February, Pfizer announced it would halt the development and commercialization of BEQVEZ due to weak demand.
The approval of BBM-H901 signifies a new era in China’s approach to treating rare diseases and advancing genomic medicine. While affordability and long-term efficacy are critical points of focus, the introduction of this therapy is a significant milestone towards more accessible and innovative treatment options for hemophilia patients.
Anna Muller contributed to this article for TROIB News
Discover more Science and Technology news updates in TROIB Sci-Tech
