TY - JOUR
T1 - The Spinal Muscular Atrophy Health Index
T2 - A novel outcome for measuring how a patient feels and functions
AU - Zizzi, Christine E.
AU - Luebbe, Elizabeth
AU - Mongiovi, Phillip
AU - Hunter, Michael
AU - Dilek, Nuran
AU - Garland, Connie
AU - Ciafaloni, Emma
AU - Zaidman, Craig M.
AU - Kissel, John T.
AU - McDermott, Michael P.
AU - Johnson, Nicholas
AU - Sansone, Valeria
AU - Heatwole, Chad R.
N1 - Funding Information:
C.H. receives royalties for the use of multiple disease‐specific instruments. He has provided consultation to Biogen Idec, Ionis Pharmaceuticals, aTyr Pharma, AMO Pharma, Acceleron Pharma, Cytokinetics, Expansion Therapeutics, Harmony Biosciences, Regeneron Pharmaceuticals, Astellas Pharmaceuticals, Recursion Pharmaceuticals, AveXis, Scholar Rock, IRIS Medicine, Takeda Pharmaceutical Co, Avidity Biosciences, and the Marigold Foundation. C.H. receives grant support from Duchenne UK, Parent Project Muscular Dystrophy, Recursion Pharmaceuticals, the National Institute of Neurological Disorders and Stroke, the Muscular Dystrophy Foundation, the Friedreich's Ataxia Research Alliance, CureSMA, and the Amyotrophic Lateral Sclerosis Association. C.Z. provides consultation to Recursion Pharmaceuticals. C.M.Z. receives grant support from Biogen. E.C. has received personal compensation for serving on advisory boards and/or as a consultant for Avexis, Biogen, Medscape, Pfizer, PTC Therapeutics, Sarepta Therapeutics, Ra Pharma, Wave, and Strongbridge Biopharma. E.C. has also received personal compensation for serving on a speaker's bureau for Biogen. She has received research and/or grant support from the US Centers for Disease Control and Prevention, CureSMA, Muscular Dystrophy Association, National Institutes of Health, Orphazyme, the Patient‐Centered Outcomes Research Institute, Parent Project Muscular Dystrophy, PTC Therapeutics, Santhera, Sarepta Therapeutics, Orphazyme, and the FDA. She has also received royalties from Oxford University Press and compensation from for editorial duties. N.J. has received grant funding from the National Institute for Neurological Disorders and Stroke (4K23NS091511, R01NS104010), US Centers for Disease Control and Prevention (DD19‐002), the FDA (7R01FD006071‐02), the Muscular Dystrophy Association, and the Coalition to Cure Calpainopathies. N.J. also receives royalties from the CCMDHI and the CMTHI. He receives research funding from Dyne, AveXis, CSL Behring, Vertex Pharmaceuticals, Fulcrum Therapeutics, ML Bio, Sarepta, and Acceleron Pharma. He has provided consultation for AveXis, AMO Pharma, Strongbridge BioPharma, Acceleron Pharma, Fulcrum Therapeutics, Dyne, Avidity, and Vertex Pharmaceuticals. M.M. has received research support from the National Institutes of Health (NIH), FDA, SMA Foundation, CureSMA, and PTC Therapeutics, and has served as a consultant for Fulcrum Therapeutics. M.M. has served on data and safety monitoring boards for NIH, AstraZeneca, Eli Lilly and Co, Catabasis Pharmaceuticals, Vaccinex, Cynapsus Therapeutics, Voyager Therapeutics, and Prilenia Therapeutics Development. The remaining authors declare no conflicts of interest. Medlink
Publisher Copyright:
© 2021 Wiley Periodicals LLC.
PY - 2021/6
Y1 - 2021/6
N2 - Introduction: The Spinal Muscular Atrophy Health Index (SMA-HI) is a multifaceted, disease-specific, patient-reported outcome to measure an SMA patient's perception of their disease burden. In preparation for upcoming therapeutic trials, we examine the validity, reliability, and usability of the SMA-HI in adults, teenagers, and children with SMA. Methods: Using data from a cross-sectional study of 359 international adult patients with SMA, we identified the most relevant symptoms to include in the SMA-HI. We utilized factor analysis, patient interviews with adults and minors (age 8-15 years), known-group validity testing, and test-retest reliability assessments to evaluate and refine the SMA-HI. Results: The SMA-HI measures overall disease burden and 15 areas of SMA health. Fifteen adult patients and five patients, age 8 to 15 years, participated in semistructured qualitative interviews and found the SMA-HI to be comprehensive, easily completed, and to have clear meaning. The final SMA-HI and its subscales demonstrated good internal consistency (Cronbach α = 0.77-0.96), high test-retest reliability (intraclass correlation coefficient = 0.60-0.96), and an ability to differentiate between SMA groups with different disease severities affecting areas such as employment and ambulation (P <.0001 for both). Discussion: This research provides evidence that the SMA-HI is a valid, relevant, and reliable outcome measure to assess multifaceted patient-reported disease burden in older children, teenagers, and adults with SMA. The SMA-HI provides an opportunity for researchers and clinicians to measure a SMA patient's perception of their health and determine relevant changes in response to therapeutic intervention or disease progression.
AB - Introduction: The Spinal Muscular Atrophy Health Index (SMA-HI) is a multifaceted, disease-specific, patient-reported outcome to measure an SMA patient's perception of their disease burden. In preparation for upcoming therapeutic trials, we examine the validity, reliability, and usability of the SMA-HI in adults, teenagers, and children with SMA. Methods: Using data from a cross-sectional study of 359 international adult patients with SMA, we identified the most relevant symptoms to include in the SMA-HI. We utilized factor analysis, patient interviews with adults and minors (age 8-15 years), known-group validity testing, and test-retest reliability assessments to evaluate and refine the SMA-HI. Results: The SMA-HI measures overall disease burden and 15 areas of SMA health. Fifteen adult patients and five patients, age 8 to 15 years, participated in semistructured qualitative interviews and found the SMA-HI to be comprehensive, easily completed, and to have clear meaning. The final SMA-HI and its subscales demonstrated good internal consistency (Cronbach α = 0.77-0.96), high test-retest reliability (intraclass correlation coefficient = 0.60-0.96), and an ability to differentiate between SMA groups with different disease severities affecting areas such as employment and ambulation (P <.0001 for both). Discussion: This research provides evidence that the SMA-HI is a valid, relevant, and reliable outcome measure to assess multifaceted patient-reported disease burden in older children, teenagers, and adults with SMA. The SMA-HI provides an opportunity for researchers and clinicians to measure a SMA patient's perception of their health and determine relevant changes in response to therapeutic intervention or disease progression.
KW - disease burden
KW - patient-reported outcome measure
KW - quality of life
KW - spinal muscular atrophy
KW - symptom assessment
KW - therapeutic trial
UR - http://www.scopus.com/inward/record.url?scp=85103068065&partnerID=8YFLogxK
U2 - 10.1002/mus.27223
DO - 10.1002/mus.27223
M3 - Article
C2 - 33711174
AN - SCOPUS:85103068065
SN - 0148-639X
VL - 63
SP - 837
EP - 844
JO - Muscle and Nerve
JF - Muscle and Nerve
IS - 6
ER -