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With Hemophilia A Therapy Approval, FDA Paves the Way for Further Gene Therapy Treatments

In late June 2023, the U.S. Food and Drug Administration (FDA) approved Roctavian, a gene therapy for the treatment of severe hemophilia A in adults. Roctavian is the first gene therapy approved for treatment of this rare condition.

Rather than receiving repeated infusions or monoclonal antibody treatments, patients receiving gene therapy could receive a single round of therapy and see a long-term reduction in their most severe and life-threatening symptoms.

Roctavian represents a breakthrough in the treatment of hemophilia A and in FDA approval of gene therapies. As a treatment for a complex and often life-threatening condition, Roctavian’s best chance at helping patients is through quick, accurate administration — a significant challenge for a complex therapy facing the many hurdles of specialty drug distribution. A centralized application with automated workflows can offer the continuous patient oversight required to ensure this breakthrough drug is put to its best use.

Understanding Hemophilia A

“Severe cases of hemophilia A can cause life-threatening health issues due to increased risk of uncontrolled bleeding,” says Peter Marks, director of the FDA’s Center for Biologics Evaluation and Research.

Hemophilia A is marked by a lack of factor VIII, a key element in blood clotting. Approximately 12 in every 100,000 U.S. males have the disease, and about 400 boys are born with it each year, according to the National Hemophilia Foundation. Also known as “classic” hemophilia, hemophilia A is more common in males. Its symptoms can range from mild to severe.

In severe cases, factor VIII levels are less than one percent of normal levels, notes the National Organization for Rare Diseases. For patients with severe hemophilia A, spontaneous bleeding events are more common than for patients with mild or moderate forms of the condition. They may include bleeding in the joints or deep muscle tissue. If not adequately treated, bleeding can cause long-term joint and muscle damage, as well as other medical issues. If bleeding occurs in the vital organs or the brain, the disease can cause life-threatening damage.

Hemophilia A has been a subject of study since its notorious appearance among Queen Victoria’s descendants, writes Leon W. Hoyer in The New England Journal of Medicine. As early as 1803, a New Hampshire doctor noted the association between the disease and its appearance only in male members of a family.

While hemophilia A is more common in males, it is “a disease without ethnic or geographic limitations,” writes Hoyer. Access to gene therapy for this disease thus represents a breakthrough for patients throughout the U.S. and the world.

Healthcare professionals reviewing form; gene therapy concept

Paving the Way for Treatment With Roctavian

To date, treatment for hemophilia A has focused on introducing factor VIII into the patient’s body from outside sources, such as blood transfusions. The creation of emicizumab, a monoclonal antibody that mimics the behavior of factor VIII in the blood, has also helped treat the disease and boost patient longevity.

Yet both these treatments pose an issue for patients: They must be continued throughout the patient’s life, write Giancarlo Castaman and fellow authors in a 2022 article in the International Journal of Molecular Sciences. Patients who lose access to factor VIII or antibody treatments risk a resurgence of their symptoms, with all the potential harm these symptoms can cause.

Gene therapy, on the other hand, “allows a single intravenous treatment that could result in long-term expression of FVIII,” write Castaman et al. In some patients, “minimization (or possibly elimination) of bleeding episodes for the recipient’s lifetime” may occur.

Castaman et al. note, however, that several challenges remain in applying gene therapy to the treatment of severe hemophilia A, even after regulatory approval. Examples the researchers cite include:

  • Determining which patients qualify for gene therapy.
  • Managing patients’ expectations around a novel therapy whose long-term effects remain largely unknown.
  • Deepening our understanding of how the treatment affects gene expression and long-term safety through continued research.
  • Developing standardized centers and processes through which to optimize and monitor treatment delivery and effects.

Technological tools designed to help manage the distribution of rare disease therapies can help hemophilia A researchers and patients meet some of these challenges. The Hub, for example, provides a way for patients to stay on top of provider, pharmacy and payer notifications regarding qualifications. It also provides information about the therapy, and helps ensure patients receive the treatment they need.

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