Table 4 Rare disease patient advocates shift the focus [34, 35]

Disease context: Duchenne muscular dystrophy (DMD) usually presents itself as muscle weakness at around the age of four in boys, which then rapidly deteriorates. Typically muscle loss occurs first in the upper legs and pelvis followed by those of the upper arms. Many are unable to walk by the age of 12 years.

Drug trial focus: Until recently, the focus of drug trials in DMD has been the ambulant stage of the disease. Motor function assessment has been the main focus, with the use of the 6-min walk test and ClinROs, such the North Star Ambulatory Assessment.

A shift in focus: Since the average age at loss of ambulation is ca. 10.5 years and median survival is 30 years, most individuals affected by DMD are non-ambulant. Under the leadership of the Netherlands-based advocacy group Duchenne Parent Project, a multidisciplinary and multi-stakeholder group identified the need for novel outcome measures for use across the whole spectrum of DMD patients. They developed the Performance of the Upper Limb module (PUL), a ClinRO designed specifically for DMD.

Adding the patient voice: In addition to the PUL, this group recognised the need to develop in parallel a patient-reported outcome measure to complement information on daily living that cannot otherwise be observed in a clinical or research setting and focusing on outcomes that are meaningful to patients. As boys and young men with DMD were interviewed in that context, they confirmed that what mattered to them included: ‘to be able to put their arms on the table’, ‘to retain the ability to use a computer keyboard’, ‘to brush their teeth’, ‘to pour a drink’ etc. – in other words, their hopes focused on retaining upper body function; not necessarily to see improvements in their ability to walk. An example of such a patient interview (for the Upper Limb PRO) is now available online [86].