The Development of a Comprehensive Repository of Patient-Reported Outcome Measures (PROMs) for Spinal Muscular Atrophy and Duchenne Muscular Dystrophy

Speaker(s)

Malandrini FB1, Meregaglia M1, Spataro C2, D'amico A3, Sansone V4, Scopinaro A5, Ciani O6
1SDA Bocconi School of Management, Milano, MI, Italy, 2Roche Spa, Monza, Italy, 3IRCCS, Bambino Gesù Children's Hospital, Rome, Rome, Italy, 4Milan NEMO Center, Milano, Italy, 5UNIAMO Federazione Italiana Malattie Rare Onlus, Rome, Rome, Italy, 6SDA Bocconi School of Management, Milan, MI, Italy

Presentation Documents

OBJECTIVES: This study aims to create a comprehensive archive of patient-reported outcomes measures (PROMs) for Spinal Muscular Atrophy (SMA) and Duchenne Muscular Dystrophy (DMD), highlighting their key characteristics and target outcome domains. This could be valuable to improve the selection of appropriate PROMs in clinical settings.

METHODS: This study is part of the PRO4All project, a multi-stakeholder initiative aimed at raising awareness and knowledge about the potential and use of PROs in healthcare. We aimed to retrieve PROMs, observer-reported measures (ObsROMs) and caregiver-reported outcome measures (CROMs) in SMA and DMD by searching eprovide.mapi-trust.org and published reviews. We developed a data extraction form to collect information: instruments name, type of pathologies, type of questionnaire (PROM, ObsROM, CROM), recall period (e.g., last week) and number of items. Moreover, we assigned each item a specific domain according to a predefined 38-item taxonomy for outcome classification.

RESULTS: A total of 44 instruments were identified and fully analyzed. Of these 15 (42.9%) were neuromuscular type-specific, 4 (11.4%) were DMD type specific, 2 (5.7%) SMA type specific; The remaining 14 (40.0%) were intended for the general population but also recommended or used for DMD and SMA patients. Most questionnaires (79.5%) were PROMs, 11.4% ObsROM (e.g., completed by parents), and 9.1% CROMs related to caregiver’s status. In almost half of the cases (52.3%) the recall period was last week. The mean number of items per questionnaire was 22.6±17.1 (range: 5-86).

In total, 955 items were assigned an outcome domain, which was ‘physical functioning’ (29.4%), followed by ‘emotional functioning/wellbeing’ (23.3 %), social functioning (17.3 %), ‘general outcomes’ (e.g., fatigue, malaise, anorexia, pain) (6.1%), and cognitive functioning (3.8%).

CONCLUSIONS: This review revealed significant heterogeneity in PROMs for SMA and DMD. The new archive is a valuable tool for guiding researchers and practitioners in choosing suitable measures and promoting a patient-centered approach.

Code

PCR1

Topic

Patient-Centered Research

Topic Subcategory

Patient-reported Outcomes & Quality of Life Outcomes

Disease

Musculoskeletal Disorders (Arthritis, Bone Disorders, Osteoporosis, Other Musculoskeletal), Neurological Disorders, Pediatrics, Rare & Orphan Diseases