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Table 2 Rare disease patients are the best experts of their conditions [81,82,83,84]

From: Measuring what matters to rare disease patients – reflections on the work by the IRDiRC taskforce on patient-centered outcome measures

Disease context: Idiopathic pulmonary fibrosis (IPF) is a chronic and ultimately fatal disease characterized by a progressive decline in lung function. The term pulmonary fibrosis means scarring of lung tissue and is the cause of worsening dyspnoea (shortness of breath).
US FDA’s commitment to gain the patients’ perspective: In September 2014, the U.S. FDA held a public meeting to hear perspectives from people living with idiopathic pulmonary fibrosis, its impact on their daily life, and currently available therapies. FDA conducted the meeting as part of the agency’s Patient-Focused Drug Development initiative, an FDA commitment under PDUFA V to more systematically gather patients’ perspectives on their condition and available therapies to treat their condition. At this meeting, patients clearly described the major issues associated with uncontrollable, prolonged episodes of coughing such as: shortness of breath, physical fatigue or overall malaise, and the overall impact on work and home life, including stigma.
Discordances: While patients with IPF identified cough as a central symptom during an investigation about core outcome parameters, it did not come out of the Delphi panel of 254 medical experts.
Result: It was recognised that the traditional physiological measures measured in clinical trials, such as forced vital capacity (i.e. the amount of air which can be forcibly exhaled from the lungs after taking the deepest breath possible) do not fully capture the potential benefits of a treatment that would matter to individuals affected by IPF. Although cough and fatigue are great concerns in IPF patients, traditional outcome measures have omitted to capture them adequately.