Meaningfulness of ‘any point change’ or ‘stabilization’ in the HFMSE on the psychosocial well-being of adult patients with spinal muscular atrophy

Topic:

Other

Poster Number: 181 M

Author(s):

Alicia Henriquez, MD, Seattle Children's Hospital, Stacy Dixon, MD, University of Colorado, Tina Duong, PT, PhD, Stanford University School of Medicine, Melissa Maravic, PhD, MPH, Precision AQ, Claire Cagle, MPH, Precision AQ, Amal Jamaleddine, BASc, Precision AQ, Thomas Brown, PhD, Scholar Rock, Inc., Christabella Cherubino, DC, ScD, Scholar Rock, Inc., Mouhamed Gueye, PharmD, Scholar Rock, Inc., Ashley Stanley-Copeland, MD, University of Texas at Austin; Dell Medical School, Leslie Nelson, MPT, PhD, University of Texas Southwestern Medical Center

SMA is a severe neuromuscular disorder characterized by progressive loss of spinal motor neurons and muscle weakness. Motor function scales such as the HFMSE are essential to measure treatment efficacy; however, raw scores may not fully reflect the real-world impact of functional changes.

To explore how changes in HFMSE-related tasks translate to clinically meaningful change, 60-minute semi-structured interviews were conducted with patients with SMA and/or their caregivers (n=70). Some key areas associated with improved motor function included ADLs, psychosocial outlook, independence, and QoL. Here we focus on adult patient responses (n=32) related to the meaningfulness of any point improvements or sustained function, and their impact on psychosocial outlook.

Patients (mean age [SD], 44.0y [15.5]; current function: ‘sitters’ [72%], ‘walkers’ [28%]) generally noted that any point improvements or maintaining motor function would augment their mental and emotional health, and socialization. These perceived psychosocial improvements would also impact overall independence, daily life, and QoL. One patient (sitter; currently unable to roll), shared the emotional and mental implications of improving in the rolling task stating that improvement “will boost my mentality up knowing that I can do it…” Another patient (walker), highlighted the general difficulty of losing function and emphasized the importance of stability, “It’s much easier mentally…physically…and emotionally to be in a stable space.” A separate patient (sitter) also noted that improvements in tasks like sitting would increase family interaction, “If my family is sitting on the couch, I can’t sit with them. [If I could] sit without a wheelchair and…support myself, I would be able to do that.”

Patient reflections generally suggest that any point improvements or stabilization in motor function are seen as meaningful and can be linked to enhanced psychosocial wellbeing. These insights reinforce the importance of collecting patient perspectives to gain a holistic understanding of treatment impact.