Patient Perspective Is Central to Research in Rare Diseases, Experts Argue

Placing the patient and family members at the center of research and drug development in the rare disease field is a necessity, experts say, but one that often falls short in practice.

The opinion piece,“Measuring what matters to rare disease patients – reflections on the work by the IRDiRC taskforce on patient-centered outcome measures,“ was published in the Orphanet Journal of Rare Diseases.

Back in 2011, the European Commission and the U.S. National Institutes of Health launched the International Rare Diseases Research Consortium (IRDiRC), an initiative to foster collaboration between international research centers and to increase investment in the field of rare diseases, such as Charcot-Marie-Tooth (CMT) disease.

Recently, the IRDiRC recognized that the majority of the outcomes defined in rare disease drug development programs — e.g. laboratory measures, organ size — may not reflect the benefits patients value. In response, they established a bespoke task force on Patient-Centered Outcome Measures (PCOMs).

The conclusions from the IRDiRC PCOMs Task Force were published in 2016 and reinforced the necessity for PCOMs for rare diseases.

In their opinion article, Thomas Morel at KU Leuven, Belgium, and Stefan J. Cano at Modus Outcomes, U.K., discuss PCOMs “which have the potential to systematically incorporate patient perspectives to measure those outcomes that matter most to patients.”

They argue for a greater multi-stakeholder collaboration to develop PCOMs, with rare disease patients and families at the center. The authors explained that PCOMs are a unique tool, since they quantify directly how a disease or therapy impacts outcomes that are of concern to the patient, so the patient is given a central role. Moreover, PCOMs should always be “fit-for-purpose,” they continued.

This means “they should measure the right outcomes (those that resonate with patients’ daily experiences, preferences, expectations and values) in the right patients (i.e., across a continuum of disease severity and manifestations),” the authors wrote.

The most common PCOMs are probably the “patient-reported outcome” but may also include clinician-reported, observer-reported and performance-outcome measures.

Evaluating from the perspective of the patient can bring substantial benefit to all healthcare stakeholders and may be used for several purposes, including demonstrating a certain drug clinical efficacy and contributing to understanding of the disease natural history. Its use also improves drug development and reimbursement outcomes, and guides treatment choices for daily care, or tools to monitor care delivery.

Overall, “rare disease therapies should be developed to treat patients, not just their disease: our ability to evaluate outcomes that reflect real benefits from the patient perspective is thus of pivotal importance,” the opinion concluded.