Patient preferences for treatment of neuromuscular disorders

Rare diseases are complex, uncommon, serious and debilitating conditions that often come with a poor prognosis. Neuromuscular disorders are multisystem and progressive rare diseases with few treatment options available. PREFER researchers set out to explore unmet health care needs and patient treatment preferences for two of them: myotonic dystrophy type 1 and mitochondrial myopathies. They are hoping that their findings can support decision-making in the early stages of drug development.

(Image removed) Cecilia Jimenez-Moreno

PREFER researchers asked people with neuromuscular disorders and their caregivers what they think is missing in terms of treatment options. This preference study and others like it can help inform drug development for diseases where there are no approved treatment options available to patients. When there is no baseline to draw from, it is difficult to figure out what patients want.

Patients are looking increased muscle strength as well as energy and endurance (and daytime sleepiness). They are also looking for improved balance, cognition and gut function were the top desired treatment benefits, whereas damage to the liver, kidneys or eyes was the most concerning risk factor. Depending on whether participants had previously experienced risk, and the difference between temporary and permanent risk, there was a slight difference in their preferences. PREFER researchers also identified a few differences between the preferences of caregivers and patients.

“Our findings can help fill important knowledge gaps and help get patients the treatment they desire. Patient preference studies can help identify what patients want, and what risks they are willing or unwilling to take to get the desired benefit. Even if a cure is not available, knowing what symptoms patients are most eager to alleviate will be of use to drug developers,” says Cecilia Jimenez-Moreno, one of the authors of a recent publication in the Patient journal.

By Anna Holm

Jimenez-Moreno, A. Cecilia; van Overbeeke, Eline; Pinto, Cathy Anne; Smith, Ian et al. Patient Preferences in Rare Diseases: A Qualitative Study in Neuromuscular Disorders to Inform a Quantitative Preference Study, Patient, 2021.