Researchers claim to have made “a historic breakthrough” in the treatment of haemophilia, a genetic bleeding illness that can be life-threatening if not treated properly.

For the treatment of hemophilia B, they developed the gene therapy medication BBM-H901, which has been demonstrated to be both safe and effective one year after infusion.

According to a study published in The Lancet Haematology, the average level of clotting factor activity of 10 patients included in the study climbed from less than 2% to 36.9% after 58 weeks of treatment.

Haemophilia severity is connected to clotting factor activity. A normal clotting factor activity ranges from 50 to 120 percent, while a severe haemophilia B patient’s activity could be zero or less than 1%. According to the study, people with factor levels between 20% and 40% rarely have spontaneous bleeding.

“In our long-term follow-up, only one patient had received replacement therapy due to aggravation of a previous haematoma. No other patients had excess bleeding ,” the experts said in a statement, “which greatly reduced their pain.”

“The increase of patients’ clotting factor activity levels and the stopping of bleeding represented a ‘clinical cure’ for patients to live like normal people without constantly worrying about bleeding,” they explained.

“The study has achieved the best treatment results internationally … and it takes curing incurable haemophilia B from a hope to a reality.”

Mutations in clotting factor genes are the most common cause of haemophilia. A lack of blood clotting factor VIII causes haemophilia A, while a shortage in factor IX causes haemophilia B.

To help reduce bleeding, patients must inject clotting factors throughout their lifetimes. As a result, gene therapy, which tries to heal diseases by injecting the correct genes into patients to replace faulty or mutated genes and express the correct protein or molecule, has emerged as a cutting-edge technology.

Scientists have been using adeno-associated viral (AAV) vectors as a delivery mechanism for gene therapy, but the authors warn that this could trigger an immunological response.

To lessen the negative effects of AAV, Zhang and his colleagues utilized glucocorticoids to inhibit the immunological response. They also used single-cell RNA sequencing to track AAV-specific immunity, which was a first in this type of study.

They added, “To our knowledge, this is the first trial of AAV-based liver directed gene therapy in patients with haemophilia B done in China.”

Zhang said his team would apply to conduct the clinical trial’s second and third phases, which may involve 30 to 50 participants.

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