Understanding unmet patient needs and expectations


Learning what patients prefer, what benefits they are after, and what risks they can and cannot tolerate is particularly important in the case of rare diseases. A recent PREFER publication reveals results from a large patient preference study targeting rare disease groups through an international collaboration between patient organisations. Focusing on the preferences of patients with Neuromuscular Disorders.

Patient preferences could help inform the drug development process and support the development of new treatments for these uncommon, serious and debilitating conditions. The PREFER researchers' findings will aid in this process. This time, the focus was on patients with Myotonic Dystrophy 1 and Mitochondrial Myopathies. Although they are different, the disorders manifest in a way that is similar from a clinical perspective.

“When we collected this information, we also put a lot of effort into assessing methodological strategies. We acknowledge the patient groups are small, so the sample is small; however this is one of the challenges of rare disease research in general, including neuromuscular disorders as in this case study,” says Gráinne Gorman, one of the PREFER neuromuscular disorders case study leads and one of the authors of the recent paper.

The authors followed a patient-centric approach, with patient representatives informing and supporting the process from early on and large patient organisations on board to support the recruitment of participants. The results will inform the Neuromuscular Disorders community and other stakeholders along the medical product life cycle. Going forward, they will know what patients prefer.

By Anna Holm

Jimenez-Moreno AC, Pinto CA, Levitan B et al. A study protocol for quantifying patient preferences in neuromuscular disorders: a case study of the IMI PREFER Project [version 1; peer review: 1 approved]. Wellcome Open Research, 2020, 5:253. 

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Last modified: 2021-11-10