Most Hemophilia Patients Show Positive Attitude for Gene Therapy in Study

Most people with hemophilia have a positive attitude toward gene therapy, and are willing or “very willing” to receive this treatment, according to a small interview study assessing patient perceptions.

These patients reported that they choose their treatments based mainly on five criteria. Specifically, those are blood clotting factor levels, annual bleeding rates, impact on daily life, uncertainty about long-term safety, and the possibility that regular replacement therapy injections — one of the standard therapies used to treat the genetic blood disorder — may be stopped, the study found.

Most participants were less concerned about the long‐term efficacy of gene therapy, but many were worried about its long‐term safety.

The study, “Patient perspectives regarding gene therapy in haemophilia: Interviews from the PAVING study,” was published in the journal Haemophilia.

Replacement therapy is a standard treatment for hemophilia, in which blood clotting factors are substituted for the ones that are missing or defective in people with the condition.

Gene therapies are new, investigational treatments that use a harmless modified virus to introduce a copy of the gene that encodes the missing clotting factor, allowing patients to produce their own. 

Since gene therapies are new and come with uncertainties, understanding patients’ perceptions regarding these therapies is essential to gain insight into their acceptability. 

Here, researchers based at the University of Leuven, in Belgium, designed a study to assess how well gene therapy is understood by patients. The study also investigated what additional information is needed, the patients’ willingness to use the treatment, and attitudes toward uncertainties. 

The goal was to identify the gene therapy treatment features, or attributes, most important to patients, which will help inform the ongoing PAVING — Patient preferences to Assess Value IN Gene therapies — study. PAVING is evaluating the trade-offs faced by Belgian adults with hemophilia when asked to choose between standard treatment and gene therapy.

A total of 20 adults — 19 men and one woman, half of whom were between ages 41 and 60 — were involved in the study. In all, 17 of the participants had hemophilia A and three hemophilia B. Most had severe disease (80%) and either moderate or severe joint damage (90%). 

Five (25%) were given replacement factors as needed (on-demand), while the other 15 patients (75%) were receiving preventative (prophylactic) replacement therapy.

Before the interviews (baseline), the patients were either satisfied or very satisfied with their current treatment, and their health literacy was ranked as adequate. A majority (65%) had previously discussed gene therapy with their physicians and decided not to receive the treatment, to receive it during clinical trials, or had made no decision.

All patients had heard of gene therapy at baseline, and 5% said they had a very good understanding of the treatment. Meanwhile, 30% reported they had good comprehension, 50% reasonable, 10% bad, and 5% very bad treatment understanding. Participants had received information via their hematologist (60%), internet or media (50%), or local patient organizations (30%).

Participants understood the information they were given regarding the disease, standard of care, and gene therapy. 

Multiple people requested more information regarding replacement therapy inhibitors, achieving sufficient factor levels, viral vectors, long-term side effects, and treatment-related liver inflammation. They also sought additional information on treatment with corticosteroids, follow‐up and restrictions after gene therapy, alternative therapies if benefits are not sustained, and the costs and reimbursement.

Most of the patients (65%) had positive attitudes about gene therapy, were surprised by the medical advancement, and thought it would help many people. Some thought the most benefits could be gained in those younger, protecting them against joint damage. Others believed the therapy is still novel, or too new, and more evidence is needed. 

When asked about the willingness to receive gene therapy, eight (40%) said they were “very willing” and seven (35%) were “willing.” Two participants (10%) were neutral, while three (15%) said they were “not willing.” 

The most common reason participants gave for choosing gene therapy was achieving a stable factor level with fewer bleeding risks. That was followed by no injections, less practical requirements, ability to travel, age, and lower costs from a single administration, the study found.

Reasons for not choosing gene therapy included satisfaction with current treatment and not wanting to take unnecessary risks, uncertainty about long-term safety, loss of hemophilia identity, intense initial follow‐up, old age, and potential costs. 

On average, older participants and those who had more joint damage were more willing to receive gene therapy than younger patients with moderate joint damage.

While many patients (40%) found it logical that gene therapy comes with long-term outcome uncertainty, its long-term safety was still a concern for many participants. In contrast, long-term efficacy was less of a problem in their estimation.

The five most important treatment features reported by participants in making their choice included annual bleeding rate, factor level in the blood, the uncertainty of long‐term risks, impact on daily life, and the probability that prophylaxis can be stopped, the study found.

“Most [people with hemophilia] have a positive attitude towards gene therapy,” the investigators concluded. “The identified patient‐relevant attributes may be used by regulators, health technology assessment bodies and payers in their evaluation of gene therapies for hemophilia.”