Clinical Variability in Spinal Muscular Atrophy Type III.
Journal
Annals of neurology
ISSN: 1531-8249
Titre abrégé: Ann Neurol
Pays: United States
ID NLM: 7707449
Informations de publication
Date de publication:
12 2020
12 2020
Historique:
received:
18
04
2020
revised:
01
09
2020
accepted:
06
09
2020
pubmed:
15
9
2020
medline:
22
12
2020
entrez:
14
9
2020
Statut:
ppublish
Résumé
We report natural history data in a large cohort of 199 patients with spinal muscular atrophy (SMA) type III assessed using the Hammersmith Functional Motor Scale Expanded (HFMSE). The aim of the study was to establish the annual rate and possible patterns of progression according to a number of variables, such as age of onset, age at assessment, SMN2 copy number, and functional status. HFMSE longitudinal changes were assessed using piecewise linear mixed-effects models. The dependency in the data due to repeated measures was accounted for by a random intercept per individual and an unstructured covariance R matrix was used as correlation structure. An additional descriptive analysis was performed for 123 patients, for a total of 375 12-month assessments. A break point at age 7 years was set for the whole cohort and for SMA IIIA and IIIB. Age, SMA type, and ambulatory status were significantly associated with changes in mean HFMSE score, whereas gender and SMN2 copy number were not. The increase in response before the break point of age 7 years is significant only for SMA IIIA (β = 1.79, p < 0.0001). After the break point, the change in the rate of HFMSE score significantly decrease for both SMA IIIA (β = -1.15, p < 0.0001) and IIIB (β = -0.69, p = 0.002). Our findings contribute to the understanding of the natural history of SMA type III and will be helpful in the interpretation of the real-world data of patients treated with commercially available drugs. ANN NEUROL 2020;88:1109-1117.
Substances chimiques
SMN2 protein, human
0
Survival of Motor Neuron 2 Protein
0
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
1109-1117Informations de copyright
© 2020 American Neurological Association.
Références
D'Amico A, Mercuri E, Tiziano FD, Bertini E. Spinal muscular atrophy. Orphanet J Rare Dis 2011;6:71.
Lefebvre S, Burglen L, Reboullet S, et al. Identification and characterization of a spinal muscular atrophy-determining gene. Cell 1995;80:155-165.
Pera MC, Coratti G, Berti B, et al. Diagnostic journey in spinal muscular atrophy: is it still an odyssey? PLoS One 2020;15:e0230677.
Sugarman EA, Nagan N, Zhu H, et al. Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72400 specimens. Eur J Hum Genet 2012;20:27-32.
Verhaart IEC, Robertson A, Leary R, et al. A multi-source approach to determine SMA incidence and research ready population. J Neurol 2017;264:1465-1473.
Rudnik-Schoneborn S, Hausmanowa-Petrusewicz I, Borkowska J, Zerres K. The predictive value of achieved motor milestones assessed in 441 patients with infantile spinal muscular atrophy types II and III. Eur Neurol 2001;45:174-181.
Zerres K, Rudnik-Schoneborn S, Forrest E, et al. A collaborative study on the natural history of childhood and juvenile onset proximal spinal muscular atrophy (type II and III SMA): 569 patients. J Neurol Sci 1997;146:67-72.
Wadman RI, Wijngaarde CA, Stam M, et al. Muscle strength and motor function throughout life in a cross-sectional cohort of 180 patients with spinal muscular atrophy types 1c-4. Eur J Neurol 2018;25:512-518.
Kaufmann P, McDermott MP, Darras BT, et al. Prospective cohort study of spinal muscular atrophy types 2 and 3. Neurology 2012;79:1889-1897.
Kaufmann P, McDermott MP, Darras BT, et al. Observational study of spinal muscular atrophy type 2 and 3: functional outcomes over 1 year. Arch Neurol 2011;68:779-786.
Chabanon A, Seferian AM, Daron A, et al. Prospective and longitudinal natural history study of patients with type 2 and 3 spinal muscular atrophy: baseline data NatHis-SMA study. PLoS One 2018;13:e0201004.
Vuillerot C, Payan C, Iwaz J, et al. Responsiveness of the motor function measure in patients with spinal muscular atrophy. Arch Phys Med Rehabil 2013;94:1555-1561.
Merlini L, Bertini E, Minetti C, et al. Motor function-muscle strength relationship in spinal muscular atrophy. Muscle Nerve 2004;29:548-552.
Mercuri E, Finkel R, Montes J, et al. Patterns of disease progression in type 2 and 3 SMA: implications for clinical trials. Neuromuscul Disord 2016;26:126-131.
Montes J, McDermott MP, Martens WB, et al. Six-minute walk test demonstrates motor fatigue in spinal muscular atrophy. Neurology 2010;74:833-838.
Montes J, McDermott MP, Mirek E, et al. Ambulatory function in spinal muscular atrophy: age-related patterns of progression. PLoS One 2018;13:e0199657.
Pera MC, Coratti G, Mazzone ES, et al. Revised upper limb module for spinal muscular atrophy: 12 month changes. Muscle Nerve 2019;59:426-430.
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.
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;6:453-465.
Hagenacker T, Wurster CD, Gunther R, et al. Nusinersen in adults with 5q spinal muscular atrophy: a non-interventional, multicentre, observational cohort study. Lancet Neurol 2020;19:317-325.
Jochmann E, Steinbach R, Jochmann T, et al. Experiences from treating seven adult 5q spinal muscular atrophy patients with Nusinersen. Ther Adv Neurol Disord 2020;13:1756286420907803.
Mercuri E, Sansone V. Nusinersen in adults with spinal muscular atrophy: new challenges. Lancet Neurol 2020;19:283-284.
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.
Mercuri E, Finkel R, Scoto M, et al. Development of an academic disease registry for spinal muscular atrophy. Neuromuscul Disord 2019;29:794-799.
Main M, Kairon H, Mercuri E, Muntoni F. The Hammersmith functional motor scale for children with spinal muscular atrophy: a scale to test ability and monitor progress in children with limited ambulation. Eur J Paediatr Neurol 2003;7:155-159.
Glanzman AM, Mazzone ES, Young SD, et al. Evaluator training and reliability for SMA global Nusinersen Trials1. J Neuromuscul Dis. 2018;5:159-166.
Glanzman AM, O'Hagen JM, McDermott MP, et al. Validation of the expanded Hammersmith functional motor scale in spinal muscular atrophy type II and III. J Child Neurol 2011;26:1499-1507.
Mercuri E, Messina S, Battini R, et al. Reliability of the Hammersmith functional motor scale for spinal muscular atrophy in a multicentric study. Neuromuscul Disord 2006;16:93-98.
Pera MC, Coratti G, Forcina N, et al. Content validity and clinical meaningfulness of the HFMSE in spinal muscular atrophy. BMC Neurol 2017;17:39.
Goemans N, Vanden Hauwe M, Signorovitch J, et al. Individualized prediction of changes in 6-minute walk distance for patients with Duchenne muscular dystrophy. PLoS One 2016;11:e0164684.
Mercuri E, Signorovitch JE, Swallow E, et al. Categorizing natural history trajectories of ambulatory function measured by the 6-minute walk distance in patients with Duchenne muscular dystrophy. Neuromuscul Disord 2016;26:576-583.
Wirth B, Garbes L, Riessland M. How genetic modifiers influence the phenotype of spinal muscular atrophy and suggest future therapeutic approaches. Curr Opin Genet Dev 2013;23:330-338.