Survey–Rare Disease Patients Willing to Take Treatment Risks

Ruth J Hickman, MD

The results of a recent survey published in Orphanet Journal of Rare Diseases highlight patient priorities in the context of rare disease treatments. Patients are willing to assume a relatively high degree of risk in taking newly developed treatments that might potentially benefit them. This was particularly the case for people with rare diseases causing severe symptoms and lacking effective therapeutic options.

Incorporating the perspective of the rare disease patient

In recent years, patient input has become increasingly important to officials making regulatory health care decisions. Traditionally the patient perspective was not incorporated much in this process, but this is changing.
For example, under the FDA’s Patient-Focused Drug Development Program, patients and patient advocacy organizations are encouraged to share their perspectives with drug regulators. Dr Janet Woodcock, the FDA’s Director of the Center for Drug Evaluation and Research, put it like this: “It is clear you have to start with an understanding of the disease on the people who have it . . . before you set up a measurement and go forward with truly patient-focused drug development.”
The European Drug Administration also notes patients’ value in weighing risks and benefits for potential treatments. It recognizes that “an excessive focus on avoiding risks and uncertainties concerning new medicines might be against the interests of patients, delaying or reducing access to potentially life-saving treatments.” Many rare disease patient advocacy groups have urged FDA regulators to authorize drugs with greater risks of side effects than are traditionally approved, given the debilitating and life-threatening nature of many of these diseases.

What is important to rare disease patients about possible treatments

The authors of the study wanted to add further information about what rare disease patients and their caregivers most value in terms of their treatment options. From August to November 2014 they surveyed 16 patient based organizations based out of the UK. In their final analysis, they assessed 721 patient responses and 152 informal caregivers across a total of 52 rare diseases. The three most commonly represented groups were rare rheumatological diseases (49.6%), rare neurological diseases (19.0%), and inborn errors of metabolism (17.9%).
In this quantitative choice study design, patients and caregivers chose between two different hypothetical novel treatments for rare diseases. Each hypothetical treatment profile was defined by 7 attributes: chance that the medicine would work, expected health improvement, risk of moderate side of effects affecting quality of life, risk of serious effects effects with life-threatening consequences, treatment duration, burden of treatment, and ability to conduct usual activities during treatment.
The theoretical drugs had either small, moderate, or large values in each of these categories. The researchers also gathered data about disease severity, and they collected open responses from patients about the value of treatments.
Statistical analysis showed that the most important variable was the chance that the medicine will work. The next most important variables were the risk of serious side effects and ability to perform usual activities while on treatment. Caregivers and patients with increased disability placed more value on drug response and less importance on the risk of side effects and ability to perform usual activities.

Figure 1
Attribute mean relative importance scores (n: 873). Legend: The black vertical bars denote the two-standard-error intervals around mean relative importance estimates.

Figure 2
Influence of disease context on attribute importance. Legend: This figure summarises the regression analyses investigating the effect of disease context on the relative importance of the four attributes that were found earlier as the most important to respondents. The magnitude and direction of the estimated standardized effects are visualized either by an equals sign or by one or two arrows, representing respectively the absence of effect, a small effect, or a large effect.

Quotable quotes

As one patient said in the open response portion of the study, “With motor neuron disease, any improvement outweighs any side effects. Better to die than live with this cruel disease.” Another articulated how patients’ risk/benefit perspective changes across time: “As I am symptom-free at present, I am against health risks. However, once my condition deteriorates, my attitude to health risks will change.”

Patients also expressed an eagerness to work as true equal partners with their physicians in decisions weighing the risks and benefits of drug options.
Overall, the findings underscore the need to systematically include patients in identifying treatment outcomes that truly resonate with them.
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