OBJECTIVES:

Measuring quality of life (QoL) in the general population (GP) is essential for economic evaluation because it can objectify the disease burden. Since ultra-rare diseases like spinal muscular atrophy (SMA) are very unfamiliar to GP, we aimed to develop scenarios to help GP understand patients’ condition and measure QoL by assuming they are in the states.

METHODS:

We investigated the prognosis of SMA and disease-specific measures of QoL through literature review. A draft scenario describing the condition of patients with SMA was developed, and then modified by the clinical advisory group (CAG). After the modification, it was reviewed by the survey expert, and completed with a second review by CAG.

RESULTS:

Health states of SMA were classified into five states according to the movement ability and respiratory function: (a)Inability to sit and requires permanent respirator (b)Inability to sit and requires breathing support (c)Able to sit with support (d)Able to walk with support (e)Able to stand and walk without support. In the worst health scenario (a) includes a description of general weakness, risk of morbidity and mortality from pneumonia, ways of feeding, and minimal requirements of ventilator. A slightly improved scenario (b) includes general weakness in head control, swallowing and eating, 2-year mortality, and breathing related to respiratory muscle weakness. State (c), which represents more improved state, is composed of the possibility of self-moving without a wheelchair, issue related to scoliosis, general weakness, and life expectancy. State (d) includes a description such as daily life availability, progressive muscle weakness, and rates of obesity and osteoporosis. For best condition (e), the degree of interference with daily life, disease progression, life expectancy are described. Every scenario includes images to help understand.

CONCLUSIONS:

Scenarios developed to measure the QoL of SMA patients can be applicable when measuring the disease burden of SMA patients in the GP.