Cost of Illness; Humans; Muscular Atrophy, Spinal/therapy; Patient Participation; Quality Improvement; Quality of Life; Adults living with SMA; Burden of Disease (BoD); Neuromuscular Disease (NMD); Quality of Life (QoL); Spinal Muscular Atrophy (SMA); health services; lived experience; transition
Abstract :
[en] While Spinal Muscular Atrophy (SMA) has historically been managed with supportive measures, the emergence of innovative medicines has given those living with SMA hope for improved quality of life and has revolutionized care. Despite these advances, the use of therapies and changes in disease management strategies have focused on pediatric populations, leaving adults living with SMA, and those transitioning into adulthood, relatively neglected. Through a multi-faceted approach that gathered unbiased perspectives from clinical experts, validated insights from individuals with lived experiences, and substantiated findings with evidence from the literature, we have exposed unmet needs that are hindering the field and, ultimately, impacting care and quality of life for adults living with SMA. Here, we set new aspirations and calls to action to inspire continued research in this field, stimulate dialogue across the SMA community and inform policies that deliver effective management and care throughout an adult's journey living with SMA.
Disciplines :
Neurology
Author, co-author :
Walter, Maggie C.
Chiriboga, Claudia
Duong, Tina
Goemans, Nathalie
Mayhew, Anna
Ouillade, Laëtitia
Oskoui, Maryam
Quinlivan, Ros
Vázquez-Costa, Juan F.
Vissing, John
Servais, Laurent ; Centre Hospitalier Universitaire de Liège - CHU > Département de Pédiatrie > Service de pédiatrie
Language :
English
Title :
Improving Care and Empowering Adults Living with SMA: A Call to Action in the New Treatment Era.
Finkel RS, Mercuri E, Darras BT, et al. Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy. N Engl J Med. 2017;377(18):1723-32. doi:10.1056/ NEJMoa1702752
Wan HWY, Carey KA, D'Silva A, Kasparian NA, Farrar MA. "Getting ready for the adult world": How adults with spinal muscular atrophy perceive and experience healthcare, transition and well-being. Orphanet J Rare Dis. 2019;14(1):74. doi:10.1186/s13023-019-1052-2
Veerapandiyan A, Eichinger K, Guntrum D, et al. Nusinersen for older patients with spinal muscular atrophy: A real-world clinical setting experience. Muscle Nerve. 2020;61(2):222-6. doi:10.1002/mus.26769
Farrar MA, Carey KA, Paguinto S-G, Kasparian NA, De Abreu Lourenço R. "The Whole Game is Changing and You've Got Hope": Australian Perspectives on Treatment Decision Making in Spinal Muscular Atrophy. Patient. 2020;13(4):389-400. doi:10.1007/s40271-020-00415-w
Chatwin M, Toussaint M, Gonçalves MR, et al. Airway clearance techniques in neuromuscular disorders: A state of the art review. Respiratory Medicine. 2018;136:98-110. doi:10.1016/j.rmed.2018.01.012
INF23-A-Adapt-web.pdf. Accessed February 3, 2021. http://www.musculardystrophyuk.org/wp-content/uploads/ 2017/04/INF23-A-%C2%AD-Adapt-web.pdf
Ball LJ, Fager S, Fried-Oken M. Augmentative and Alternative Communication for People with Progressive Neuromuscular Disease. Physical Medicine and Rehabilitation Clinics. 2012;23(3):689-99. doi:10.1016/j.pmr.2012. 06.003
Sansone VA, Coratti G, Pera MC, et al. Sometimes they come back: New and old spinal muscular atrophy adults in the era of nusinersen. Eur J Neurol. Published online October 4, 2020. doi:10.1111/ene.14567
Klug C, Schreiber-Katz O, Thiele S, et al. Disease burden of spinal muscular atrophy in Germany. Orphanet J Rare Dis. 2016;11(1):58. doi:10.1186/s13023-016-0424-0
Mongiovi P, Dilek N, Garland C, et al. Patient Reported Impact of Symptoms in Spinal Muscular Atrophy (PRISM-SMA). Neurology. 2018;91(13):e1206-e1214. doi:10.1212/WNL.0000000000006241
Lamarca NH, Golden L, John RM, Naini A, Vivo DCD, Sproule DM. Diabetic Ketoacidosis in an Adult Patient With Spinal Muscular Atrophy Type II: Further Evidence of Extraneural Pathology Due to Survival Motor Neuron 1 Mutation? J Child Neurol. 2013 28 11 1517-20. doi:10.1177/0883073812460096
Darba J, MarsaA. Patient characteristics and hospitalisation costs of spinal muscular atrophy in Spain: A retrospective multicentre database analysis. BMJ Open. 2019;9(11): e031271. doi:10.1136/bmjopen-2019-031271
Handberg C, Myrup P, Højberg A-L. "I was worried about not being good enough". Experiences and perspectives on pregnancy, childbirth and parenthood when living with a neuromuscular disorder-an exploration of everyday life challenges. Disabil Rehabil. Published online August 17, 2020:1-9. doi:10.1080/09638288.2020. 1804628
Chandran S, McCarthy J, Noonan K, Mann D, Nemeth B, Guiliani T. Early treatment of scoliosis with growing rods in children with severe spinal muscular atrophy:Apreliminary report. J Pediatr Orthop. 2011;31(4):450-4. doi:10.1097/ BPO.0b013e31821722b1
Finkel RS, Mercuri E, Meyer OH, et al. Diagnosis and management of spinal muscular atrophy: Part 2: Pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics. Neuromuscul Disord. 2018;28(3):197-207. doi:10.1016/j.nmd.2017. 11.004
Mercuri E, Finkel RS, Muntoni F, et al. Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care. Neuromuscul Disord. 2018;28(2):103-15. doi:10. 1016/j.nmd.2017.11.005
Fischer MJ, Asselman F-L, Kruitwagen-van Reenen ET, et al. Psychological well-being in adults with spinal muscular atrophy: The contribution of participation and psychological needs. Disabil Rehabil. 2020;42(16):2262-70. doi:10.1080/ 09638288.2018.1555864
McGraw S, Qian Y, Henne J, Jarecki J, Hobby K, Yeh WS. A qualitative study of perceptions of meaningful change in spinal muscular atrophy. BMC Neurol. 2017;17(1):68. doi:10.1186/s12883-017-0853-y
Rouault F, Christie-BrownV, Broekgaarden R, et al. Disease impact on general well-being and therapeutic expectations of European Type II and Type III spinal muscular atrophy patients. Neuromuscul Disord. 2017;27(5):428-38. doi:10.1016/j.nmd.2017.01.018
Qian Y, McGraw S, Henne J, Jarecki J, Hobby K, Yeh W-S. Understanding the experiences and needs of individuals with Spinal Muscular Atrophy and their parents: A qualitative study. BMC Neurol. 2015;15:217. doi:10.1186/ s12883-015-0473-3
Kruitwagen-Van Reenen ET,Wadman RI,Visser-Meily JM, van den Berg LH, Schr¨oder C, van der Pol WL. Correlates of health related quality of life in adult patients with spinal muscular atrophy. Muscle Nerve. 2016;54(5):850-5. doi:10.1002/mus.25148
Mercuri E, SansoneV. Nusinersen in adults with spinal muscular atrophy: New challenges. Lancet Neurol. 2020;19(4): 283-4. doi:10.1016/S1474-4422(20)30068-5
Outcome measures in SMA types II and III. Accessed October 15, 2020. https://www.sma-europe.eu/projects/ outcome-measures-in-sma-types-ii-and-iii/
Maggi L, Bello L, Bonanno S, et al. Nusinersen safety and effects on motor function in adult spinal muscular atrophy type 2 and 3. J Neurol Neurosurg Psychiatry. 2020;91(11): 1166-74. doi:10.1136/jnnp-2020-323822
Hagenacker T, Wurster CD, G¨unther R, et al. Nusinersen in adults with 5q spinal muscular atrophy: A non-interventional, multicentre, observational cohort study. Lancet Neurol. 2020;19(4):317-25. doi:10.1016/S1474-4422(20)30037-5
Walter MC, Wenninger S, Thiele S, et al. Safety and Treatment Effects of Nusinersen in Longstanding Adult 5q-SMA Type 3-A Prospective Observational Study. J Neuromuscul Dis. 2019;6(4):453-65. doi:10.3233/JND-190416
Cruz R, Belter L,Wasnock M, Nazarelli A, Jarecki J. Evaluating Benefit-risk Decision-making in Spinal Muscular Atrophy: A First-ever Study to Assess Risk Tolerance in the SMAPatient Community. Clin Ther. 2019;41(5):943-60.e4. doi:10.1016/j.clinthera.2019.03.012
Vázquez-Costa JF. Natural history data in adults with SMA. Lancet Neurol. 2020;19(7):564-5. doi:10.1016/S1474-4422 (20)30183-6
Goble J, Dai D, Song X, et al. Travel Burden of Spinal Muscular Atrophy Patients in the United States (P1.6-070). Neurology. 2019;92(15 Supplement):P1.6-070.
Camfield P, Camfield C. Transition to adult care for children with chronic neurological disorders. Ann Neurol. 2011; 69(3):437-44. doi:10.1002/ana.22393
Veerapandiyan A, Connolly AM, Finkel RS, et al. Spinal muscular atrophy care in theCOVID-19 pandemic era. Muscle Nerve. 2020;62(1):46-9. doi:10.1002/mus.26903
Roche taps Great Lakes, Vivonoetics to passively monitor infants in drug trial. MobiHealthNews. Published February 2, 2017. Accessed October 15, 2020. https://www.mobi healthnews.com/content/roche-taps-great-lakes-vivono etics-passively-monitor-infants-drug-trial
Pechmann A, K¨onig K, Bernert G, et al. SMArtCARE-A platform to collect real-life outcome data of patients with spinal muscular atrophy. Orphanet J Rare Dis. 2019;14(1): 18. doi:10.1186/s13023-019-0998-4
Ho H-M, Tseng Y-H, Hsin Y-M, Chou F-H, Lin W-T. Living with illness and self-transcendence: The lived experience of patients with spinal muscular atrophy. J Adv Nurs. 2016;72(11):2695-705. doi:10.1111/jan.13042
Kruitwagen-van Reenen ET, van der Pol L, Schr¨oder C, et al. Social participation of adult patients with spinal muscular atrophy: Frequency, restrictions, satisfaction, and correlates. Muscle Nerve. 2018;58(6):805-11. doi:10.1002/mus. 26201
Jeppesen J, Madsen A, Marquardt J, Rahbek J. Living and ageing with spinal muscular atrophy type 2: Observations among an unexplored patient population. Dev Neurorehabil. 2010;13(1):10-8. doi:10.3109/17518420903154093
Mazzella AJ, Curry M, Belter L, Cruz R, Jarecki J. "I Have SMA, SMA Doesn't Have Me"-A Qualitative Snapshot into the Challenges, Successes, and Quality of Life of Adolescents and Young Adults with SMA. In Review; 2020. doi:10.21203/rs.3.rs-49014/v2
Cremers CH, Fischer MJ, Kruitwagen-van Reenen ET, et al. Participation and mental well-being of mothers of homeliving patients with spinal muscular atrophy. Neuromuscul Disord. 2019;29(4):321-9. doi:10.1016/j.nmd.2019.02.011
Droege M, Sproule D, Arjunji R, Gauthier-Loiselle M, Cloutier M, Dabbous O. Economic burden of spinal muscular atrophy in the United States: A contemporary assessment. J Med Econ. 2020;23(1):70-9. doi:10.1080/136969 98.2019.1646263
