Scientists have discovered that improved walking distance is associated with improved quality of life in patients with Pompe disease, and published their findings in Value in Health.

In incurable, progressive diseases such as Pompe disease, improving a patient’s quality of life becomes the cornerstone medical objective. Scientists have explored various ways to measure the quality of life in patients with Pompe disease, including questionnaires and other tests.

Because Pompe disease causes muscle weakness, the eventual lack of mobility in some patients has a detrimental effect on their perceived quality of life. Raza and colleagues decided to investigate the association between 6-Minute Walk Distance (6MWD) scores and patient-reported quality of life. 

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Read more about Pompe disease etiology

The research team used data from an existing clinical trial on adult patients with late-onset Pompe disease (n=123). They focused on examining the 6MWD between the baseline and week 52, as well as any walking tests conducted in between.

As for patient-reported outcomes, the research team used 6 questionnaires, including the Patient-Reported Outcomes Measurement Information System (PROMIS) Physical Function and PROMIS Fatigue scores.

The results demonstrated that changes in the 6MWD correlated significantly with multiple patient-reported outcome measures. Patients who performed better at week 52 than at baseline reported an improvement in their quality of life. 

“Improved walking distance in patients with Pompe disease is significantly associated with quality of life gains and with improvement in many other patient-reported measures,” the authors concluded.


Raza S, Keyzor I, Shohet S, Chandak A, Cheng A, Hummel N. Association of walking distance with quality of life and other patient-reported outcomes in Pompe disease. Value Health. 2022;25(7):S553. doi:10.1016/j.jval.2022.04.1412