Associations Between Physical Function Measures and Patient Reported Outcomes in Pompe Disease and Other Rare Disorders Impacting Motor, Respiratory, and Skeletal Function
Author(s)
Shohet S1, Keyzor I1, Kopiec A2, Zalewska M2, Brougham M3
1Amicus Therapeutics UK LTD., Marlow, BKM, UK, 2Certara Inc, Princeton, NJ, USA, 3Certara Inc., Montreal, QC, Canada
Presentation Documents
OBJECTIVES To improve understanding of how physical function and quality of life (QoL) are associated in Pompe disease and certain other rare disorders impacting motor, respiratory and skeletal function. METHODS MEDLINE via PubMed was searched up to November 30, 2020 using Medical Subject Headings (MeSH) terms and non-MeSH words and phrases. The search was confined to the following rare disorders: Pompe Disease (PD), Morquio syndrome (MQS), Hypophosphatasia (HP), X-linked hypophosphataemia (HPT), Spinal muscular atrophy (SMA), Duchenne muscular dystrophy (DMD), and Fibrodysplasia Ossificans Progressiva (FOP). Studies were selected via title and abstract screening followed by detailed full text screening. RESULTS Of 434 records from PubMed, 14 eligible studies represented four disease areas: PD, SMA, MQS and DMD applying QoL instruments such as SF-36, EQ-5D, and the Pediatric Quality of Life Inventory (PedsQL). Functional measures spanned 6 Minute Walk Test (6MWT), 3-Minute Stair Climb Test (3MSCT), Forced Vital Capacity (FVC), Manual Muscle Test (MMT), Motor Function Measure (MFM), Vignos scale, North Star Ambulatory Assessment (NSAA) and several others. Nine of 14 studies reported statistical significance between a functional measure and a QoL instrument and of 50 statistically significant relationships, 25 were either strongly positive or negative correlations. In a PD study, SF-36 (physical components) were significantly positively correlated to 6MWT and FVC. In adults with MQS, EQ-5D correlated significantly positively with 6MWT, 3MSCT and FVC, but not for children. In DMD, the PedsQL showed significant positive correlation with MFM and significant negative correlation with the Vignos scale. CONCLUSIONS Across various rare muscular, skeletal and neurodegenerative diseases there are strong and statistically significant associations between physician-measured functional outcomes and patient-reported quality of life. While meriting further validation, they can provide new insights on the multisystemic nature of these diseases and serve as potential proxies when estimating QoL gains or modelling patient outcomes.
Conference/Value in Health Info
2021-11, ISPOR Europe 2021, Copenhagen, Denmark
Value in Health, Volume 24, Issue 12, S2 (December 2021)
Code
POSC30
Topic
Clinical Outcomes, Methodological & Statistical Research, Patient-Centered Research
Topic Subcategory
Clinical Outcomes Assessment, Patient-reported Outcomes & Quality of Life Outcomes, PRO & Related Methods
Disease
Musculoskeletal Disorders, Neurological Disorders, Rare and Orphan Diseases