Impact of nusinersen on the health-related quality of life and caregiver burden of patients with spinal muscular atrophy with symptom onset after age 6 months.
caregiver burden
health-related quality of life
nusinersen
patient-reported outcome
spinal muscular atrophy
Journal
Muscle & nerve
ISSN: 1097-4598
Titre abrégé: Muscle Nerve
Pays: United States
ID NLM: 7803146
Informations de publication
Date de publication:
10 2023
10 2023
Historique:
revised:
14
07
2023
received:
31
01
2023
accepted:
16
07
2023
medline:
22
9
2023
pubmed:
21
8
2023
entrez:
21
8
2023
Statut:
ppublish
Résumé
Novel disease-modifying approaches for spinal muscular atrophy (SMA) have highlighted the patient's perspective on functional changes over time. In this study, we evaluated the impact of nusinersen on the health-related quality of life (HRQoL) of patients with later-onset SMA and the caregiver burden. We assessed the changes in HRQoL using the Pediatric Quality of Life Inventory 4.0 Generic Core Scale (PedsQL GCS) and the Pediatric Quality of Life Inventory 3.0 Neuromuscular Module (PedsQL NMM) during 26 months of treatment. Caregiver burden was assessed using the Assessment of Caregiver Experience with Neuromuscular Disease. We also assessed motor function using the Hammersmith Functional Motor Scale-Expanded (HFMSE) and the Revised Upper Limb Module score. Twenty-four patients and their caregivers were included. The median age of patients at treatment onset was 148.8 (6.8 to 269.4) months. A significant improvement was observed in psychosocial health in proxy-reported PedsQL (P = .023). However, the physical health scores of the PedsQL GCS and About my neuromuscular disorder subscores of the PedsQL NMM did not change, although there was a significant increase in HFMSE scores. Regarding the caregiver burden, the financial burden was reduced, whereas time burden increased. A higher HFMSE score was associated with better self-reported PedsQL GCS total scores (P < .001). Our results provide insights into the multifaceted implications of disease-modifying therapies for SMA through patient-reported outcome measures (PROMs). PROMs should be taken into consideration to assess the clinical significance of the functional changes identified by clinician-reported scales.
Substances chimiques
nusinersen
5Z9SP3X666
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
404-413Informations de copyright
© 2023 Wiley Periodicals LLC.
Références
Mazzella A, 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. Orphanet J Rare Dis. 2021;16:96.
Mix L, Winter B, Wurster CD, et al. Quality of life in SMA patients under treatment with nusinersen. Front Neurol. 2021;12:626787.
Klug C, Schreiber-Katz O, Thiele S, et al. Disease burden of spinal muscular atrophy in Germany. Orphanet J Rare Dis. 2016;11:58.
Iannaccone ST, Hynan LS, Morton A, et al. The PedsQL in pediatric patients with spinal muscular atrophy: feasibility, reliability, and validity of the pediatric quality of life inventory generic core scales and neuromuscular module. Neuromuscul Disord. 2009;19:805-812.
Chambers GM, Settumba SN, Carey KA, et al. Prenusinersen economic and health-related quality of life burden of spinal muscular atrophy. Neurology. 2020;95:e1-e10.
Mercuri E, Darras BT, Chiriboga CA, et al. Nusinersen versus sham control in later-onset spinal muscular atrophy. N Engl J Med. 2018;378:625-635.
Finkel RS, Mercuri E, Darras BT, et al. Nusinersen versus sham control in infantile-onset spinal muscular atrophy. N Engl J Med. 2017;377:1723-1732.
Ratni H, Ebeling M, Baird J, et al. Discovery of risdiplam, a selective survival of motor neuron-2 (SMN2) gene splicing modifier for the treatment of spinal muscular atrophy (SMA). J Med Chem. 2018;61:6501-6517.
Mendell JR, al-Zaidy S, Shell R, et al. Single-dose gene-replacement therapy for spinal muscular atrophy. N Engl J Med. 2017;377:1713-1722.
de Vivo DC, Bertini E, Swoboda KJ, et al. Nusinersen initiated in infants during the presymptomatic stage of spinal muscular atrophy: interim efficacy and safety results from the phase 2 NURTURE study. Neuromuscul Disord. 2019;29:842-856.
Kim AR, Lee JM, Min YS, et al. Clinical experience of nusinersen in a broad Spectrum of spinal muscular atrophy: a retrospective study. Ann Indian Acad Neurol. 2020;23:796-801.
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;61:222-226.
Chan SH, Chae JH, Chien YH, et al. Nusinersen in spinal muscular atrophy type 1 from neonates to young adult: 1-year data from three Asia-Pacific regions. J Neurol Neurosurg Psychiatry. 2021;92:1244-1246.
Chiriboga CA, Swoboda KJ, Darras BT, et al. Results from a phase 1 study of nusinersen (ISIS-SMNRx) in children with spinal muscular atrophy. Neurology. 2016;8610:890-897.
O'Hagen JM, Glanzman AM, McDermott MP, et al. An expanded version of the Hammersmith functional motor scale for SMA II and III patients. Neuromuscul Disord. 2007;17:693-697.
Mazzone E, Bianco F, Martinelli D, et al. Assessing upper limb function in nonambulant SMA patients: development of a new module. Neuromuscul Disord. 2011;216:406-412.
Varni JW, Seid M, Rode CA. The PedsQL: measurement model for the pediatric quality of life inventory. Med Care. 1999;37:126-139.
Pasternak A, Sideridis G, Fragala-Pinkham M, et al. Rasch analysis of the pediatric evaluation of disability inventory-computer adaptive test (PEDI-CAT) item bank for children and young adults with spinal muscular atrophy. Muscle Nerve. 2016;54:1097-1107.
Matsumoto H, Clayton-Krasinski DA, Klinge SA, et al. Development and initial validation of the assessment of caregiver experience with neuromuscular disease. J Pediatr Orthop. 2011;31:284-292.
Schober P, Boer C, Schwarte LA. Correlation coefficients: appropriate use and interpretation. Anesth Analg. 2018;126:1763-1768.
Landfeldt E, Edström J, Sejersen T, et al. Quality of life of patients with spinal muscular atrophy: a systematic review. Eur J Paediatr Neurol. 2019;23:347-356.
Kirschner J, Crawford T, Ryan M, et al. VP.51 impact of nusinersen on caregiver experience and health-related quality of life (HRQoL) when initiated in the presymptomatic stage of SMA in NURTURE. Neuromuscul Disord. 2022;32(Suppl):S91.
Johnson NB, Paradis AD, Naoshy S, et al. Evaluation of nusinersen on impact of caregiver experience and HRQOL in later-onset spinal muscular atrophy (SMA): results from the phase 3 CHERISH trial. Neuromuscul Disord. 2020;94:1429.
Montes J, Krasinski D, Foster R, et al. SMA-THERAPY: P.269 impact of continued nusinersin treatment on caregiver experience and health-related quality of life in later-onset SMA: results from the SHINE study. Neuromuscul Disord. 2020;30(Suppl):S125.
AlRuthia Y, Almuaythir GS, Alrasheed H, et al. Proxy-reported quality of life and access to nusinersen among patients with spinal muscular atrophy in Saudi Arabia. Patient Prefer Adherence. 2021;15:729-739.
Thimm A, Brakemeier S, Kizina K, et al. Assessment of health-related quality of life in adult spinal muscular atrophy under nusinersen treatment-a pilot study. Front Neurol. 2021;12:812063.
Chen E, Dixon S, Naik R, et al. Early experiences of nusinersen for the treatment of spinal muscular atrophy: results from a large survey of patients and caregivers. Muscle Nerve. 2021;63:311-319.
Gusset N, Stalens C, Stumpe E, et al. Understanding European patient expectations towards current therapeutic development in spinal muscular atrophy. Neuromuscul Disord. 2021;31:419-430.
Kaufmann P, McDermott MP, Darras BT, et al. Prospective cohort study of spinal muscular atrophy types 2 and 3. Neurology. 2012;79:1889-1897.
de Oliveira CM, Araújo AP. Self-reported quality of life has no correlation with functional status in children and adolescents with spinal muscular atrophy. Eur J Paediatr Neurol. 2011;15:36-39.
Mongiovi P, Dilek N, Garland C, et al. Patient reported impact of symptoms in spinal muscular atrophy (PRISM-SMA). Neurology. 2018;91:e1206-e1214.
Messina S, Frongia AL, Antonaci L, et al. A critical review of patient and parent caregiver oriented tools to assess health-related quality of life, activity of daily living and caregiver burden in spinal muscular atrophy. Neuromuscul Disord. 2019;29:940-950.
Weaver MS, Yuroff A, Sund S, Hetzel S, Halanski MA. Quality of life outcomes according to differential nusinersen exposure in pediatric spinal muscular atrophy. Children (Basel). 2021;8:604.
Zizzi CE, Luebbe E, Mongiovi P, et al. The spinal muscular atrophy health index: a novel outcome for measuring how a patient feels and functions. Muscle Nerve. 2021;63:837-844.
Mazzella A, Cruz R, Belter L, et al. Assessing perspectives of disease burden and clinically meaningful changes using the spinal muscular atrophy health index in adolescents and young adults. Muscle Nerve. 2022;66:276-281.