Positive association between physical outcomes and patient-reported outcomes in late-onset Pompe disease: a cross sectional study

Abstract

Background: Pompe disease is a rare, progressive metabolic myopathy. The aim of this study is to investigate the associations of physical outcomes with patient-reported outcome measures (PROMs) in late-onset Pompe disease. Methods: We included 121 Dutch adult patients with Pompe disease. Physical outcomes comprised muscle strength (manual muscle testing using Medical Research Council [MRC] grading, hand-held dynamometry [HHD]), walking ability (6-min walk test [6MWT]), and pulmonary function (forced vital capacity [FVC] in upright and supine positions). PROMs comprised quality of life (Short Form 36 health survey [SF-36]), participation (Rotterdam Handicap Scale [RHS]) and daily-life activities (Rasch-Built Pompe-Specific Activity [R-PAct] Scale). Analyses were cross-sectional: the time-point before, and closest to, start of Enzyme Replacement Therapy was chosen. Associations between PROMs and physical outcomes were investigated using linear regression models. Results: RHS and R-PAct scores were better in patients with higher FVC supine and upright, HHD, MRC and 6MWT scores, accounting for the effect of sex, disease duration, use of wheelchair and ventilator support. While the SF-36 Physical Component Summary (PCS) was correlated positively with FVC upright, HHD, MRC and 6MWT scores, there was no significant relationship between the SF-36 Mental Component Summary (MCS) and any of the physical outcomes. Conclusions: Participation, daily-life activities, and the physical component of quality of life of adult Pompe patients are positively correlated to physical outcomes. This work serves as a first step towards assessing how changes over time in physical outcomes are related to changes in PROMs, and to define the minimal change in physical outcomes required to make an important difference for the patient.

Individualized Assessment of Exercise Capacity in Response to Acute and Long-Term Enzyme Replacement Therapy in Pediatric Pompe Disease

“…The possibility that increasing drug delivery by either increasing dosage or frequency of administration or by means of newer formulations might halt the progression of the disease has been suggested. Common evaluation parameters include patient-reported outcome measures (PROMs), motor function scores, pulmonary function tests and walking assessments (e.g., 6 min walking test, 6MWT) for ambulatory patients [7][8][9].…”

Six-Minute Walk Distance Is a Useful Outcome Measure to Detect Motor Decline in Treated Late-Onset Pompe Disease Patients

“…The 6MWD is easy to perform, quick and inexpensive, but can only be used in ambulatory patients and depends on motivation, age, sex, height, weight and skeletal problems, which can influence gait and thereby affect the distance walked. However, the 6MWD will usually not be the only endpoint in clinical trials, and in LOPD patients, parameters for respiratory function such as forced vital capacity (FVC) will also be included, as well as patient-reported outcome measures (PROMs), which are becoming more and more important, such as the Rasch-built Pompe-specific Activity (R-Pact) scale, measuring daily-life activities, with a proven positive correlation with physical outcomes and developed specifically for LOPD [36,37].…”

“…Furthermore, the TUG and 10MWT are also timed tests like 6MWD, but in these short-timed measures, there is a certain degree of error and less reliability due to the short duration of the tests. A correlation with a disease-specific patient-reported outcome measure (PROM), such as the Rasch-built Pompe-specific Activity (R-Pact) scale, might also have helped to identify a real decline from the patient's perspective [36,37].…”

A betegek által riportált kimeneti mutatók jelentősége Pompe-kórban

“…A PROM-oknak köszönhetôen derült fény Pompe-betegségben a betegek szokatlan, az objektív izomerô-csökkenés mértékét meghaladó fáradékonyságára, ami vizsgálatunk adatai alapján is látható. Elsôként Yuan és munkatársai obszervációs tanulmánya közölte, hogy Pompe-betegeknél a kimerültség az izomgyengeség mellett az elsô tünetek egyike lehet 13 . Vizsgálatunkban a fáradékonyság a követés 3 éve alatt szinte minden betegnél fokozódott, még abban az esetben is, ha általános izomerejét stagnálónak minôsítette az illetô.…”