RARE Daily

Why Patients May Be Slow to Embrace Some Gene Therapies

February 12, 2024

The advent of gene therapies for the bleeding disorder hemophilia represents a major advance in treatment and promises to potentially free people with the disorder from the need for regular replacement therapies, but a new study finds patients have reservations and questions about the use of these gene therapies.

The study, published in the Orphanet Journal of Rare Diseases, was based on interviews with 11 people with hemophilia A and two with hemophilia B in the United Kingdom who did not have access to gene therapies for their conditions. The researchers wanted to see what the participants understood about these treatments, the concerns they have, and what barriers they believe stands in their way of getting treatment. One partner of one of the patients was also interviewed.

In the United States and Europe regulators have approved BioMarin’s hemophilia A gene therapy Roctavian and CSL’s Behring’s hemophilia B gene therapy Hemgenix have won regulatory approval. Additional gene therapies are advancing toward approval.

Hemophilia A and hemophilia B are genetic conditions caused by a mutation in the genes responsible for producing a protein needed for responsible for clotting. In the case of hemophilia A, the deficient protein is factor VIII, and in hemophilia B it is factor IX. In the absence of adequate levels of these proteins, people with these conditions are at risk of painful and potentially life-threatening bleeds, which can occur spontaneously. Prolonged bleeding episodes can lead to serious complications, such as bleeding into joints, muscles or internal organs. The current standard of care is for individuals to receive lifelong preventative therapy with infusions or injections of the needed protein at routine intervals to maintain enough clotting factor in the bloodstream to prevent bleeds.

Though the Orphanet study is small, it does point to several lessons about the introduction of new therapeutic approaches where patients have a long history of using an existing therapy. It highlights the need for clear and accessible information with  patients about these therapies and the need for developers of these therapies to understand what concerns patients may have about the introduction of new treatments.

While all of the participants in the study viewed the emergence of gene therapies as having the potential to improve the quality of life for people living with hemophilia A or hemophilia B, they expressed concerns about durability of these therapies, their perception of the need to make prolonged use of steroids and the effects from them, and obstacles to obtaining them. The participants all received care at facilities that did not participate in clinical trials for these therapies.

’The fact is I really enjoy the treatment I’m on. I chose this treatment because I can’t be bothered dealing with hemophilia—I want to just treat and forget,” one study participant who believed the gene therapy would increase their treatment burden in the short-run said. “And obviously, that’s maybe one of the selling points of gene therapy, but not in its current formation when there’s so much baggage attached to it.”

Others expressed they were going to wait until there was more long-term experience with the use of gene therapy before using one.

While there were concerns about whether they would have access to a gene therapy based on whether the treatment is considered cost-effective or prohibitive, others cited the hassle of getting access to getting the therapy as being a barrier for them.

“The biggest impact hemophilia has on me isn’t the bleeding. It’s not even the joint damage. It’s all the paperwork. It’s all the bureaucracy, the admin, managing hospital appointments, managing home deliveries that never quite go right. So, any more paperwork, like hemophilia admin […] I don’t see the need to take on any more bureaucracy.”

It does suggest the importance of providing accessible and understandable information about new therapies to doctors and patients and addressing perceptions, right or wrong, that patients may have about them.

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