Chad Stevens, a 63-year-old hemophilia B patient, received a novel gene therapy, Hemgenix, at Nebraska Medicine, marking a significant advancement in treating the condition. Stevens had been dependent on regular infusions of blood clotting factor for over four decades due to his body's inability to produce factor 9, a crucial protein. The treatment, administered in mid-October, represents a new hope for those with hemophilia B.
Gene Therapy Approach
Hemgenix, developed by CSL Behring, doesn't repair the mutated gene directly. Instead, it employs a modified virus to deliver a functional gene to the liver. This gene provides the necessary instructions for the body to produce factor 9 on its own. Nebraska Medicine is the first hospital in its region to offer this gene therapy, which was approved by the FDA in 2022.
Patient Impact and Hope
Since receiving the gene therapy, Stevens has not experienced any bleeds or required clotting factor infusions. He anticipates that the therapy will mitigate his severe hemophilia, potentially reducing his condition to a milder form that only necessitates infusions in cases of severe trauma or surgery. Dr. Alex Nester, a hematologist at Nebraska Medicine, hailed the treatment as a long-awaited dream for the hemophilia community.
Broader Implications for Hemophilia Treatment
Hemophilia B affects approximately 7,000 people in the U.S. Kim Phelan, CEO of The Coalition for Hemophilia B, emphasized that the lasting benefits of gene therapy include reduced joint damage, fewer hospitalizations, and an improved quality of life for patients. The FDA has also approved gene therapies for hemophilia A and sickle cell disease, signaling a growing trend in treating genetic conditions.
Challenges and Considerations
Despite the promise of gene therapies, adoption has been somewhat slow. Dr. Nester suggests this may be due to the complex history of hemophilia treatment, including past issues with contaminated blood products. Additionally, younger patients who have benefited from recombinant clotting factors may be less inclined to pursue a more permanent solution. The cost of Hemgenix, reportedly $3.5 million for the one-time treatment, is also a significant factor. However, CSL Behring reports that 90% of insurers now cover the therapy and they offer programs to assist with co-pays.
Cost-Effectiveness and Long-Term Outcomes
While the upfront cost of gene therapy is substantial, the annual cost of clotting factors can be around $500,000 per patient. Researchers have observed that most patients receiving gene therapy maintain at least 10% of normal clotting factor levels even five years post-treatment. This level is often sufficient to prevent spontaneous bleeds and bleeds associated with minor trauma.
Patient Selection and Future Prospects
Not all hemophilia patients are eligible for Hemgenix. Patients must not have antibodies to the virus or the missing factor. As gene therapy continues to evolve, newer versions are in development, offering further hope for improved treatments. Stevens' experience underscores the transformative potential of gene therapy in significantly improving the lives of hemophilia patients.
