Published SMA Research
Cure SMA and its partners publish papers concerning important research on spinal muscular atrophy (SMA). Below is the latest SMA Industry Collaboration and Cure SMA published research relevant to the treatment and care of SMA.
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Cure SMA Publications
Be sure you check out additional published research and resources below.
2025
Patient-reported assessment of bulbar function in spinal muscular atrophy (SMA): Validation of a self-report scale
Lefton-Greif MA, Belter L, Jarecki J, Schroth M, Zeng Y, Crawford TO, Eaton C. J Neuromuscul Dis. 2025 Mar 20:22143602251325741. doi: 10.1177/22143602251325741. Epub ahead of print. PMID: 40111903.
2024
Assessment of barriers to referral and appointment wait times for the evaluation of spinal muscular atrophy (SMA): Findings from a web-based physician survey
Curry MA, Cruz RE, Belter LT, Schroth MK, Jarecki J. Neurol Ther. 2024 Mar 2. Epub ahead of print.
2023
A mixed-method approach to develop an ambulatory module of the SMA Independence Scale
Staunton H, Cleanthous S, Teodoro V, Barrett L, Braid J, Ewens B, Cano S, Baranello G, Kirschner J, Belter L, Mayhew A. J Neuromuscul Dis. 2023;10(6):1093-1109.
Assessing the impact of grief on quality of life, work productivity, and health outcomes for parents bereaved from SMA: A study protocol
Riley AG, Mulé CM, Lerner D, Belter L, et al. Cost Eff Resour Alloc. 2023 Aug 23;21(1):55.
Identifying biomarkers of spinal muscular atrophy for further development
Glascock J, Darras BT, Crawford TO, et al. J Neuromuscul Dis. 2023 Jul 12.
2021
The Cure SMA Membership Surveys: Highlights of key demographic and clinical characteristics of individuals with spinal muscular atrophy
Belter L, Jarecki J, Reyna SP, et al. Journal Neuromuscular Dis. 2021;8(1):109-123.
2020
Revised recommendations for the treatment of infants diagnosed with spinal muscular atrophy via newborn screening who have 4 copies of SMN2
Glascock J, Sampson J, Connolly AM, et al. J Neuromuscul Dis. 2020;7(2):97-100.
2018
An overview of the Cure SMA membership database: Highlights of key demographic and clinical characteristics of SMA members
Belter L, Cook SF, Crawford TO, Jarecki J, Jones CC, Kissel JT, Schroth M, Hobby K. J Neuromuscul Dis. 2018;5(2):167-176.
Treatment algorithm for infants diagnosed with spinal muscular atrophy through newborn screening
Glascock J, Sampson J, Haidet-Phillips A, et al. J Neuromuscul Dis. 2018;5(2):145-158.
2017
Cure SMA and our patient community celebrate the first approved drug for SMA
Glascock J, Lenz M, Hobby K, Jarecki J. Gene Ther. 2017 Sep;24(9):498-500.
Cure SMA Funded Research Publications
Be sure you check out below additional published research and resources from the SMA Industry Collaboration
2025
Development of the SMA EFFORT: A new approach to characterize perceived physical fatigability in spinal muscular atrophy
Rodriguez-Torres R, Kanner CH, Gay EL, Uher D, Corbeil T, Coratti G, Dunaway Young S, Rohwer A, Muni Lofra R, McDermott MP, De Vivo DC, Wall MM, Glynn NW, Montes J. J Neuromuscul Dis. 2025 Jan-Feb;12(1):22143602241313326. doi: 10.1177/22143602241313326.
Alterations in cardiac function correlate with a disruption in fatty acid metabolism in a mouse model of SMA
Nair NN, Kline RA, Boyd I, Anikumar M, Thomson A, Lamont DJ, Gray GA, Wishart TM, Murray LM. Hum Mol Genet. 2025 Jan 15:ddaf006. doi: 10.1093/hmg/ddaf006.
SMN depletion impairs skeletal muscle formation and maturation in a mouse model of SMA
Liu H, Chehade L, Deguise MO, De Repentigny Y, Kothary R. Hum Mol Genet. 2025 Jan 23;34(1):21-31. doi: 10.1093/hmg/ddae162.
2024
Sm-site containing mRNAs can accept Sm-rings and are downregulated in spinal muscular atrophy
Blatnik AJ, Sanjeev M, Slivka J, Pastore B, Embree CM, Tang W, Singh G, Burghes AHM. bioRxiv [Preprint]. 2024 Oct 9:2024.10.09.617433. doi: 10.1101/2024.10.09.617433.
2023
International SMA Consortium (ISMAC). 2-year change in revised hammersmith scale scores in a large cohort of untreated paediatric Type 2 and 3 SMA participants
Stimpson G, Ramsey D, Wolfe A, et al. J Clin Med. 2023 Feb 28;12(5):1920.
Nifedipine ameliorates cellular differentiation defects of SMN-deficient motor neurons and enhances neuromuscular transmission in SMA mice
Tejero R, Alsakkal M, Hennlein L, Lopez-Cabello AM, Jablonka S, Tabares L. Int J Mol Sci. 2023.
Diminished motor neuron activity driven by abnormal astrocytic EAAT1 glutamate transporter activity in spinal muscular atrophy is not fully restored after lentiviral SMN delivery
Welby E, Ebert AD. Glia. 2023 May;71(5):1311-1332.
A spinal muscular atrophy modifier implicates the SMN protein in SNARE complex assembly at neuromuscular synapses
Kim JK, Jha NN, Awano T, et al. Neuron. 2023 May 3;111(9):1423-1439.e4.
Potentiation of neuromuscular transmission by a small molecule calcium channel gating modifier improves motor function in a severe spinal muscular atrophy mouse model
Ojala KS, Kaufhold CJ, Davey MR, et al. Hum Mol Genet. 2023 May 18;32(11):1901-1911.
Muscle: An independent contributor to the neuromuscular spinal muscular atrophy disease phenotype
Jha NN, Kim JK, Her YR, Monani UR. JCI Insight. 2023 Sep 22;8(18):e171878.
Cerebrospinal fluid proteomic changes after nusinersen in patients with spinal muscular atrophy
Beaudin M, Kamali T, Tang W, et al. J Clin Med. 2023 Oct 23;12(20):6696.
Differential impact on motor unit characteristics across severities of adult spinal muscular atrophy
Kelly KM, Mizell J, Bigdeli L, et al. Ann Clin Transl Neurol. 2023 Dec;10(12):2208-2222.
2022
Viral mediated knockdown of GATA6 in SMA iPSC-derived astrocytes prevents motor neuron loss and microglial activation
Allison RL, Welby E, Khayrullina G, Burnett BG, Ebert AD. Glia. 2022;70(5):989-1004. https://onlinelibrary.wiley.com/doi/10.1002/glia.24153.
Knowledge of genetic test results among caregivers and individuals with spinal muscular atrophy
Mazzella A, O'Brien S, Jarecki J. PLoS One. 2022;17(11):e0276756. https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0276756.
Motor unit recovery following SMN restoration in mouse models of spinal muscular atrophy
Comley LH, Kline RA, Thomson AK, et al. Hum Mol Genet. 2022;31(18):3107-3119. https://academic.oup.com/hmg/article/31/18/3107/6584726.
A patient-centered evaluation of meaningful change on the 32-Item motor function measure in spinal muscular atrophy using qualitative and quantitative data
Duong T, Staunton H, Braid J, et al. Front. Neurol. 2021;12:770423. https://www.frontiersin.org/articles/10.3389/fneur.2021.770423/full.
Hip pain in non-ambulatory children with Type-I or II spinal muscular atrophy
Hanna RB, Nahm N, Bent MA, et al. JB & JS Open Access. 2022;7(3). https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9478277/.
Survival motor neuron protein deficiency alters microglia reactivity
Khayrullina G, Alipio-Gloria ZA, Deguise MO, et al. Glia. 2022;70(7):1337-1358. https://onlinelibrary.wiley.com/doi/10.1002/glia.24177.
Clinical and research readiness for spinal muscular atrophy: The time is now for knowledge translation
Krosschell KJ, Dunaway Young S, Peterson I, et al. Phys Ther. 2022;102(10). https://academic.oup.com/ptj/article/102/10/pzac108/6651754.
Natural history of 10-meter walk/run test performance in spinal muscular atrophy: A longitudinal analysis
Krosschell KJ, Townsend EL, Kiefer M, et al. Neuromuscul Disord. 2022;32(2):125-134. https://www.nmd-journal.com/article/S0960-8966(21)00616-7/fulltext.
Counteracting chromatin effects of a splicing-correcting antisense oligonucleotide improves its therapeutic efficacy in spinal muscular atrophy
Marasco LE, Dujardin G, Sousa-Luís R, et al. Cell. 2022;185(12):2057-2070.e2015. https://www.cell.com/cell/fulltext/S0092-8674(22)00529-3.
Assessing perspectives of disease burden and clinically meaningful changes using the Spinal Muscular Atrophy Health Index in adolescents and young adults
Mazzella A, Cruz R, Belter L, et al. Muscle Nerve. 2022;66(3):276-281. https://onlinelibrary.wiley.com/doi/10.1002/mus.27644.
2021
Assessment of cerebral spinal fluid biomarkers and microRNA-mediated disease mechanisms in spinal muscular atrophy patient samples
Welby E, Rehborg RJ, Harmelink M, Ebert AD. Hum Mol Genet. 2021 Dec 17:ddab365. doi: 10.1093/hmg/ddab365. Online ahead of print. PMID: 34919695.
Premature delivery in the domestic sow in response to in utero delivery of AAV9 to fetal piglets
Rich KA,Wier CG, Russo J, Kong L, Heilman PL, Reynolds A, Knapp A, Pino MG, Keckley E, Mattox L, Malbrue RA, Sumner CJ, Buhimschi C, Kolb SJ. Gene Ther. 2021 Nov 22. doi: 10.1038/s41434-021-00305-2. Online
ahead of print. PMID: 34803165.
A novel CARM1-HuR axis involved in muscle differentiation and plasticity misregulated in spinal muscular atrophy
Ravel-Chapuis A, Haghandish A, Daneshvar N, Jasmin BJ, Côté J. Hum Mol Genet. 2021 Nov 15:ddab333. doi: 10.1093/hmg/ddab333. Online ahead of print. PMID: 34791230.
Emerging concepts underlying selective neuromuscular dysfunction in infantile-onset spinal muscular atrophy
Gollapalli K, Kim JK, Monani UR.Neural Regen Res. 2021 Oct;16(10):1978-1984. doi: 10.4103/1673-
5374.308073.PMID: 33642371 Review.
Sumoylation regulates the assembly and activity of the SMN complex
Riboldi GM, Faravelli I, Kuwajima T, Delestrée N, Dermentzaki G, De Planell-Saguer M, Rinchetti P, Hao LT, Beattie CC, Corti S, Przedborski S, Mentis GZ, Lotti F. Nat Commun. 2021 Aug 19;12(1):5040. doi: 10.1038/s41467-021-25272-
5. PMID: 34413305.
Persistent neuromuscular junction transmission defects in adults with spinal muscular atrophy treated with nusinersen
Arnold WD, Severyn S, Zhao S, Kline D, Linsenmayer M, Kelly K, Tellez M, Bartlett A, Heintzman S, Reynolds J, Sterling G, Weaver T, Rajneesh K, Burghes AHM, Kolb SJ, Elsheikh B. BMJ Neurol Open. 2021 Aug 12;3(2):e000164. doi: 10.1136/bmjno-2021-000.
Increased systemic HSP70B levels in spinal muscular atrophy infants
Eichelberger EJ, Alves CRR, Zhang R, Petrillo M, Cullen P, Farwell W, Hurt JA, Staropoli JF, Swoboda KJ. Ann Clin Transl Neurol. 2021 Jul;8(7):1495-1501. doi: 10.1002/acn3.51377. Epub 2021 May 15. PMID: 33991176; PMCID: PMC8283166.
TOR signaling regulates liquid phase separation of the SMN complex governing snRNP biogenesis
Schilling M, Prusty AB, Boysen B, Oppermann FS, Riedel YL, Husedzinovic A, Rasouli H, König A, Ramanathan P, Reymann J, Erfle H, Daub H, Fischer U, Gruss OJ. Cell Rep. 2021 Jun 22;35(12):109277. doi:
10.1016/j.celrep.2021.109277.
Survival motor neuron deficiency slows myoblast fusion through reduced myomaker and myomixer expression
McCormack NM, Villalón E, Viollet C, Soltis AR, Dalgard CL, Lorson CL, Burnett BG. J Cachexia Sarcopenia Muscle. 2021 Jun 11. doi: 10.1002/jcsm.12740. Online ahead of print.
PMID: 34115448.
Metabolic dysfunction in spinal muscular atrophy
Deguise MO, Chehade L, Kothary R. Int J Mol Sci. 2021 May 31;22(11):5913. doi: 10.3390/ijms22115913. PMID: 34072857; PMCID: PMC8198411.
Safety, tolerability, and effect of nusinersen treatment in ambulatory adults with 5q-SMA
Elsheikh B, Severyn S, Zhao S, Kline D, Linsenmayer M, Kelly K, Tellez M, Bartlett A, Heintzman S, Reynolds J, Sterling G, Weaver T, Rajneesh K, Kolb SJ, Arnold WD. Front Neurol. 2021 May 20;12:650535. doi: 10.3389/fneur.2021.650535.
PMID: 34093395; PMCID: PMC8174580.
Essential competencies for physical therapist managing individuals with spinal muscular atrophy: A delphi study
Timmerberg JF, Krosschell KJ, Dunaway Young S, Uher D, Yun C, Montes J. PLoS One. 2021 Apr 22;16(4):e0249279. doi:
10.1371/journal.pone.0249279. PMID: 33886555; PMCID: PMC8062020.
Safety, tolerability, and effect of nusinersen in non-ambulatory adults with spinal muscular atrophy
Elsheikh B, Severyn S, Zhao S, Kline D, Linsenmayer M, Kelly K, Tellez M, Bartlett A, Heintzman S, Reynolds J, Sterling G, Weaver T, Rajneesh K, Kolb SJ, Arnold WD. Front Neurol. 2021 Apr 16;12:650532. doi: 10.3389/fneur.2021.650532
Dysphagia phenotypes in spinal muscular atrophy: The past, present, and promise for the future
McGrattan KE, Graham RJ, DiDonato CJ, Darras BT. Am J Speech Lang Pathol. 2021 Apr 6:1-15. doi: 10.1044/2021_AJSLP-20-00217.
Diminished muscle oxygen uptake and fatigue in spinal muscular atrophy
Montes J, Goodwin AM, McDermott MP, Uher D, Hernandez FM, Coutts K, Cocchi J, Hauschildt M, Cornett KM, Rao AK, Monani UR, Ewing Garber C, De Vivo DC. Ann Clin Transl Neurol. 2021 Mar 31. doi: 10.1002/acn3.51353.
Online ahead of print.
Identification and structural analysis of the Schizosaccharomyces pombe SMN complex
Veepaschit J, Viswanathan A, Bordonné R, Grimm C, Fischer U. Nucleic Acids Res. 2021 Mar 23:gkab158. doi: 10.1093/nar/gkab158.
A voluntary statewide newborn screening pilot for spinal muscular atrophy: Results from early check
Kucera KS, Taylor JL, Robles VR, Clinard K, Migliore B, Boyea BL, Okoniewski KC, Duparc M, Rehder CW, Shone SM, Fan Z, Raspa M, Peay HL, Wheeler AC, Powell CM, Bailey DB Jr, Gehtland LM. Int J Neonatal Screen. 2021 Mar 21;7(1):20. doi: 10.3390/ijns7010020. PMID: 33801060; PMCID: PMC8006221.
“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
Mazzella A, Curry M, Belter L, Cruz R, Jarecki J.
In search of a cure: The development of therapeutics to alter the progression of spinal muscular atrophy
Ojala KS, Reedich EJ, DiDonato CJ, Meriney SD. Brain Sci. 2021 Feb 5;11(2):194. doi: 10.3390/brainsci11020194.
SMN depleted mice offer a robust and rapid onset model of non-alcoholic fatty liver disease
Deguise MO, Pileggi C, De Repentigny Y, Beauvais A, Tierney A, Chehade L, Michaud J, Llavero-Hurtado M, Lamont D, Atrih A, Wishart TM, Gillingwater TH, Schneider BL, Harper ME, Parson SH, Kothary R.Cell Mol Gastroenterol Hepatol. 2021 Feb 2:S2352- 345X(21)00025-4. doi:
10.1016/j.jcmgh.2021.01.019. Online ahead of print. PMID: 33545428.
Impaired prenatal motor axon development necessitates early therapeutic intervention in severe SMA
Kong L, Valdivia DO, Simon CM, Hassinan CW, Delestrée N, Ramos DM, Park JH, Pilato CM, Xu X, Crowder M, Grzyb CC, King ZA, Petrillo M, Swoboda KJ, Davis C, Lutz CM, Stephan AH, Zhao X, Weetall M, Naryshkin NA, Crawford TO, Mentis GZ, Sumner CJ. Sci Transl Med. 2021 Jan 27;13(578):eabb6871. doi:
10.1126/scitranslmed.abb6871.PMID: 33504650.
Gene-targeting therapeutics for neurological disease: Lessons learned from spinal muscular atrophy
Ravi B, Chan-Cortés MH, Sumner CJ. Annu Rev Med. 2021 Jan 27;72:1-14. doi: 10.1146/annurev-med-070119-115459.
Outreach to new mothers through direct mail and email: recruitment in the Early Check research study
Paquin RS, Lewis MA, Harper BA, Moultrie RR, Gwaltney A, Gehtland LM, Peay HL, Duparc M, Raspa M, Wheeler AC, Powell CM, King NMP, Shone SM, Bailey DB Jr. Clin Transl Sci. 2020 Dec 31. doi: 10.1111/cts.12950. Online ahead of print.
Spinal motor neuron loss occurs through a p53- and-p21-independent mechanism in the Smn(2B/-) mouse model of spinal muscular atrophy
Reedich EJ, Kalski M, Armijo N, Cox GA, DiDonato CJ. Exp Neurol. 2020 Dec 28:113587. doi: 10.1016/j.expneurol.2020.113587. Online ahead of print. PMID: 33382987.
Short-duration splice promoting compound enables a tunable mouse model of spinal muscular atrophy
Rietz A, Hodgetts KJ, Lusic H, Quist KM, Osman EY, Lorson CL, Androphy EJ. Life Sci Alliance. 2020 Nov 24;4(1):e202000889. doi: 10.26508/lsa.202000889. Print 2021 Jan. PMID:
33234679.
2020
Clinical variability in spinal muscular atrophy Type 3
Coratti G, Messina S, Lucibello S, Pera MC, Montes J, Pasternak A, Bovis F, Exposito Escudero J, Mazzone ES, Mayhew A, Glanzman AM, Young SD, Salazar R, Duong T, Muni Lofra R, De Sanctis R, Carnicella S, Milev E, Civitello M, Pane M, Scoto M, Bettolo CM, Antonaci L, Frongia A, Sframeli M, Vita GL, D’Amico A, Van Den Hauwe M, Albamonte E, Goemans N, Darras BT, Bertini E, Sansone V, Day J, Nascimento Osorio A, Bruno C, Muntoni F, De Vivo DC, Finkel RS, Mercuri E. Ann Neurol. 2020 Dec;88(6):1109-1117. doi: 10.1002/ana.25900. Epub 2020 Oct 2.
Prospective cohort study of nusinersen treatment in adults with spinal muscular atrophy
Yeo CJJ, Simeone SD, Townsend EL, Zhang RZ, Swoboda KJ. J Neuromuscul Dis. 2020;7(3):257-268. doi: 10.3233/JND-190453.
The Cure SMA Membership Surveys: Highlights of key demographic and clinical characteristics of individuals with spinal muscular atrophy
Belter L, Jarecki J, Reyna SP, Cruz R, Jones CC, Schroth M, O’Toole CM, O’Brien S, Hall SA, Johnson NB, Paradis AD.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7902958/.
Revised recommendations for the treatment of infants diagnosed with spinal muscular atrophy via newborn screening who have Four copies of SMN2
Glascock J, Sampson J, Connolly AM, Darras BT, Day JW, Finkel R, Howell RR, Klinger KW, Kuntz N, Prior T, Shieh PB, Crawford TO, Kerr D, Jarecki J.J Neuromuscul Dis. 2020;7(2):97-100. doi: 10.3233/JND-190468.
Neuroanatomical models of muscle strength and relationship to ambulatory function in spinal muscular atrophy
Rodriguez-Torres, Rafaela; Fabiano, Julia; Goodwin, Ashley; Rao, Ashwini K; Kinirons, Stacy; De Vivo, Darryl; Montes, Jacqueline; J Neuromuscul Dis. 2020,vol. 7, no. 4, pp. 459-466. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9344600/.
Whole-blood dysregulation of actin-cytoskeleton pathway in adult spinal muscular atrophy patients
Siranosian JJ, Nery FC, Alves CRR, Siranosian BA, Lyons NJ, Eichelberger EJ, Garner R, Da Silva Duarte Lepez S, Johnstone AJ, Subramanian A, Swoboda KJ. Ann Clin Transl Neurol. 2020 Jun 17. doi: 10.1002/acn3.51092.
Stander use in spinal muscular atrophy: Results from a large natural history database
Townsend EL, Simeone SD, Krosschell KJ, Zhang RZ, Swoboda KJ; Project Cure SMA Investigatorʼs Network. Pediatr Phys Ther. 2020 Jun 16. doi: 10.1097/PEP.0000000000000713.
SMN-deficiency disrupts SERCA2 expression and intracellular Ca(2+) signaling in cardiomyocytes from spinal muscular atrophy mice and patient- derived iPSCs
Khayrullina G, Moritz KE, Schooley JF, Fatima N, Viollet C, McCormack NM, Smyth JT, Doughty ML, Dalgard CL, Flagg TP, Burnett BG. Skelet Muscle. 2020 May 8;10(1):16. doi: 10.1186/s13395-020-00232-7.
Whole blood SMN protein levels correlate with severity of denervation in spinal muscular atrophy
Alves CRR, Zhang R, Johnstone AJ, Garner R, Eichelberger EJ, Da Silva Duarte Lepez S, Yi V, Stevens V, Poxson R, Schwartz R, Zaworski P, Swoboda KJ. Muscle Nerve. 2020 Jun 8. doi: 10.1002/mus.26995.
Blood flow to the spleen is altered in a mouse model of spinal muscular atrophy
Deguise MO, Beauvais A, Schneider BL, Kothary R. J Neuromuscul Dis. 2020 Apr 24. doi: 10.3233/JND-200493.
Motor transmission defects with sex differences in a new mouse model of mild spinal muscular atrophy
Deguise MO, De Repentigny Y, Tierney A, Beauvais A, Michaud J, Chehade L, Thabet M, Paul B, Reilly A, Gagnon S, Renaud JM, Kothary R. EBioMedicine. 2020 Apr 24;55:102750. doi: 10.1016/j.ebiom.2020.102750.
Comparison of the efficacy of MOE and PMO modifications of systemic antisense oligonucleotides in a severe spinal muscular atrophy mouse model
Sheng L, Rigo F, Bennett CF, Krainer AR, Hua Y. Nucleic Acids Res. 2020 Feb 27. pii: gkaa126. doi: 10.1093/nar/gkaa126.
Muscle-specific SMN reduction reveals motor neuron-independent disease in spinal muscular atrophy models
Kim JK, Jha NN, Feng Z, Faleiro MR, Chiriboga CA, Wei-Lapierre L, Dirksen RT, Ko CP, Monani UR. J Clin Invest. 2020 Feb 10. pii: 131989. doi: 10.1172/JCI131989.
R-Roscovitine improves motoneuron function in mouse models for spinal muscular atrophy
Tejero R, Balk S, Franco-Espin J, Ojeda J, Hennlein L, Drexl H, Dombert B, Clausen JD, Torres-Benito L, Saal- Bauernschubert L, Blum R, Briese M, Appenzeller S, Tabares L, Jablonka S.
2019
Serum creatinine is a biomarker of progressive denervation in spinal muscular atrophy
Alves CRR, Zhang R, Johnstone AJ, Garner R, Nwe PH, Siranosian JJ, Swoboda KJ. Neurology. 2019 Dec 27. pii: 10.1212/WNL.0000000000008762. doi: 10.1212/WNL.0000000000008762.
Splicing defects of the profilin gene alter actin dynamics in an S. pombe SMN mutant
Antoine M, Patrick KL, Soret J, Duc P, Rage F, Cacciottolo R, Nissen KE, Cauchi RJ, Krogan NJ, Guthrie C, Gachet Y, Bordonné R. iScience. 2019 Dec 28;23(1):100809. doi: 10.1016/j.isci.2019.100809.
Stasimon contributes to the loss of sensory synapses and motor neuron death in a mouse model of spinal muscular atrophy
Simon CM, Van Alstyne M, Lotti F, Bianchetti E, Tisdale S, Watterson DM, Mentis GZ, Pellizzoni L. Cell Rep. 2019 Dec 17;29(12):3885-3901.e5. doi:
10.1016/j.celrep.2019.11.058.
ZPR1 prevents R-loop accumulation, upregulates SMN2 expression and rescues spinal muscular atrophy
Annapoorna Kannan, Xiaoting Jiang, Lan He, Saif Ahmad, Laxman Gangwani. Brain, awz373, https://doi.org/10.1093/brain/awz373. Published: 12 December 2019.
Pathologic alterations in the proteome of synaptosomes from a mouse model of spinal muscular atrophy
Eshraghi M, Gombar R, De Repentigny Y, Vacratsis PO, Kothary R. J Proteome Res. 2019 Aug 2;18(8):3042-3051. doi:
10.1021/acs.jproteome.9b00159. Epub 2019 Jul 11.
Permittivity of ex vivo healthy and diseased murine skeletal muscle from 10 kHz to 1 MHz
Nagy JA, DiDonato CJ, Rutkove SB, Sanchez B. Sci Data. 2019 Apr 18;6(1):37. doi: 10.1038/s41597-019-0045-2.
Impaired kidney structure and function in SMA
Nery FC, Siranosian JJ, Rosales I, Deguise MO, Sharma A, Muhtaseb AW, Nwe P, Johnstone AJ, Zhang R, Fatouraei M, Huemer N, Alves CRR, Kothary R, Swoboda KJ. Neurol Genet. 2019 Aug 12;5(5):e353. doi: 10.1212/NXG.0000000000000353. eCollection 2019 Oct.
Outcome measures in a cohort of ambulatory adults with spinal muscular atrophy
Elsheikh B, King W, Peng J, Swoboda KJ, Reyna SP, LaSalle B, Prior TW, Arnold WD, Kissel JT, Kolb SJ. Muscle Nerve. 2019 Nov 14. doi: 10.1002/mus.26756. [Epub ahead of print]
SMA Subtype Concordance in Siblings: Findings from the Cure SMA Cohort
Jones CC, Cook SF, Jarecki J, Belter L, Reyna SP, Staropoli J, Farwell W, Hobby K. J Neuromuscul Dis. 2019 Nov 5. doi: 10.3233/JND-190399. [Epub ahead of print]
Low fat diets increase survival of a mouse model of spinal muscular atrophy
Deguise MO, Chehade L, Tierney A, Beauvais A, Kothary R. Ann Clin Transl Neurol. 2019 Oct 13. doi: 10.1002/acn3.50920. [Epub ahead of print]
Structural basis of a small molecule targeting RNA for a specific splicing correction
Campagne S, Boigner S, Rüdisser S, Moursy A, Gillioz L, Knörlein A, Hall J, Ratni H, Cléry A, Allain FH. Nat Chem Biol.
2019 Oct 21. doi: 10.1038/s41589-019-0384-5.
[Epub ahead of print]
Abnormal fatty acid metabolism is a core component of spinal muscular atrophy
Deguise MO, Baranello G, Mastella C, Beauvais A, Michaud J, Leone A, De Amicis R, Battezzati A, Dunham C, Selby K, Warman Chardon J, McMillan HJ, Huang YT, Courtney NL, Mole AJ, Kubinski S, Claus P, Murray LM, Bowerman M, Gillingwater TH, Bertoli S, Parson SH, Kothary R. Ann Clin Transl Neurol. 2019 Aug;6(8):1519-1532. doi: 10.1002/acn3.50855. Epub 2019 Jul 26.
AVXS-101 (Onasemnogene Abeparvovec) for SMA1: Comparative study with a prospective natural history cohort
Al-Zaidy SA, Kolb SJ, Lowes L, Alfano LN, Shell R, Church KR, Nagendran S, Sproule DM, Feltner DE, Wells C, Ogrinc F, Menier M, L’Italien J, Arnold WD, Kissel JT, Kaspar BK, Mendell JR J Neuromuscul Dis. 2019 Jul 30. doi: 10.3233/JND-190403.
Motor neuron loss in spinal muscular atrophy is not associated with somal stress-activated JNK/c-Jun signaling
Pilato CM, Park JH, Kong L, d’Ydewalle C, Valdivia D, Chen KS, Griswold-Prenner I, Sumner CJ. Hum Mol Genet. 2019 Jul 4. pii: ddz150. doi: 10.1093/hmg/ddz150.
Reduced P53 levels ameliorate neuromuscular junction loss without affecting motor neuron pathology in a mouse model of spinal muscular atrophy
Courtney NL, Mole AJ, Thomson AK, Murray LM. Cell Death Dis. 2019 Jul 4;10(7):515. doi: 10.1038/s41419-019-1727-6.
Defective expression of mitochondrial, vacuolar H+-ATPase and histone genes in a C. elegans model of spinal muscular atrophy
Gao X, Xu J, Chen H, Xue D, Pan W, Zhou C, Ma YC, Ma L. Front Genet. 2019 May 3;10:410. doi: 10.3389/fgene.2019.00410. eCollection 2019.
Intraperitoneal delivery of a novel drug-like compound improves disease severity in severe and intermediate mouse models of Spinal Muscular Atrophy
Osman EY, Rietz A, Kline RA, Cherry JJ, Hodgetts KJ, Lorson CL, Androphy EJ. Sci Rep. 2019 Feb 7;9(1):1633. doi: 10.1038/s41598-018-38208-9.
ACTIVE (Ability Captured Through Interactive Video Evaluation) workspace volume video game to quantify meaningful change in spinal muscular atrophy
Alfano LN, Miller NF, Iammarino MA, Moore Clingenpeel M, Lowes SL, Dugan ME, Kissel JT, Al Zaidy S, Tsao CY, Lowes LP. Dev Med Child Neurol. 2019 Apr 8. doi: 10.1111/dmcn.14230.
Interaction between alpha-COP and SMN ameliorates disease phenotype in a mouse model of spinal muscular atrophy
Custer SK, Astroski JW, Li HX, Androphy EJ. Biochem Biophys Res Commun. 2019 May 3. pii: S0006-291X(19)30833-2. doi:
10.1016/j.bbrc.2019.04.176. Orphanet J Rare Dis. 2021 Feb 22;16(1):96. doi: 10.1186/s13023-021-01701-y.
Cure SMA Industry Collaboration (SMA-IC) Publications
See additional resources and materials below from the SMA Industry Collaboration.
2026
An updated review of the SMA clinical trial landscape in the United States
Sarr, F., Peterson, I., Glascock, J., & Curry, M. (2026). An updated review of the SMA clinical trial landscape in the United States: Findings from analysis of recruitment targets on ClinicalTrials.gov and a survey of SMA clinical trial sites on factors affecting site capacity and readiness. Contemporary clinical trials communications, 49, 101601.
Impact of Early Intervention on Motor Milestone Achievement in Spinal Muscular Atrophy
Lawrence, K. A. K., Belter, L., Curry, M., Tak, C., & Schroth, M. (2026). Impact of Early Intervention on Motor Milestone Achievement in Spinal Muscular Atrophy: Insights from Cure SMA Survey Data. Neurology and therapy, 10.1007/s40120-026-00943-x. Advance online publication.
2025
SMA Community Priorities for Future Drug Therapies: Cross-Sectional Survey Findings Representing 410 Adults with SMA
Peterson, I.S., Chitale, R., Curry, M.A. et al. SMA Community Priorities for Future Drug Therapies: Cross-Sectional Survey Findings Representing 410 Adults with SMA. Neurol Ther 14, 1083–1092 (2025). https://doi.org/10.1007/s40120-025-00753-7
Spinal Muscular Atrophy Functional Composite Score Revised (SMA-FCR) in Untreated and Nusinersen-Treated Patient Cohorts
Amy Pasternak, Michael McDermott, Jacqueline Montes, Allan Glanzman, Giorgia Coratti, Sally Young, Trinh Duong, William Martens, John Day, Zarazuela Zolkipli-Cunningham, Valeria Sansone, Adele D'Amico, Sonia Messina, Claudio Bruno, Eugenio Mercuri, Darryl De Vivo, Basil Darras. 2025 July, 22 doi.org/10.1212/WNL.0000000000213839
A qualitative, mixed-method approach to reaching consensus on function, fatigue, and fatigability outcomes in teens and adults living with spinal muscular atrophy
Glascock, J., Belter, L.T., Burk, M.M. et al. A qualitative, mixed-method approach to reaching consensus on function, fatigue, and fatigability outcomes in teens and adults living with spinal muscular atrophy. Orphanet J Rare Dis 20, 519 (2025). https://doi.org/10.1186/s13023-025-04047-x
2024
Assessment of barriers to referral and appointment wait times for the evaluation of spinal muscular atrophy (SMA): Findings from a web-based physician survey
Curry MA, Cruz RE, Belter LT, Schroth MK, Jarecki J. Neurol Ther. 2024 Mar 2. Epub ahead of print.
Telemedicine use, comfort, and perceived effectiveness in the spinal muscular atrophy community
Peterson IS, Belter LT, Curry MA, Jarecki J. Telemed J E Health. 2024 Feb;30(2):536-544. doi: 10.1089/tmj.2023.0293.
2023
Telemedicine use, comfort, and perceived effectiveness in the spinal muscular atrophy community
Peterson IS, Belter LT, Curry MA, Jarecki J. Telemed J E Health. 2023 Aug 11.
Evaluating perceived fatigue within an adult spinal muscular atrophy population
Belter L, Peterson I, Jarecki J. Neurol Ther. 2023;12(6):2161-2175.
Development of an international SMA bulbar assessment for inter-professional administration
Dunaway Young S, McGrattan K, Johnson E, et al. J Neuromuscul Dis. 2023;10(4):639-652.
Effects of the COVID-19 pandemic on SMA screening and care: Physician and community insights
Curry M, Peterson I, Belter L, et al. Neurol Ther. 2023;10.1007/s40120-023-00516-2.
Assessing bulbar function in spinal muscular atrophy using patient-reported outcomes
Dunaway Young S, Pasternak A, Duong T, et al. J Neuromuscul Dis. 2023;10(2):199-209.
2022
Knowledge of genetic test results among caregivers and individuals with spinal muscular atrophy
Belter L, Mazzella A, O'Brien S, Jarecki J. PLoS One. 2022;17(11):e0276756.
Clinical and research readiness for spinal muscular atrophy: The time is now for knowledge translation
Assessing perspectives of disease burden and clinically meaningful changes using the Spinal Muscular Atrophy Health Index in adolescents and young adults
Mazzella A, Cruz R, Belter L, et al. Muscle Nerve. 2022;66(3):276-281.
The Cure SMA clinical trial experience survey: A study of trial participant perspectives on clinical trial management and patient-centric management practices
Peterson IS, Mazzella AJ, Belter LT, Curry MA, Cruz RE, Jarecki J. Neurol Ther. 2022;11(3):1167-1181.
Clinical trial readiness for spinal muscular atrophy: Experience of an international educational-training initiative
Tizzano EF, Christie-Brown V, Baranello G, et al. Journal of Neuromuscular Diseases. 2022;9(6):809-820.
2021
The Spinal Muscular Atrophy Health Index: A novel outcome for measuring how a patient feels and functions
Zizzi CE, Luebbe E, Mongiovi P, et al. Muscle Nerve. 2021 Jun;63(6):837-844.
The Spinal Muscular Atrophy Health Index: Italian validation of a disease-specific outcome measure
Sansone VA, Pirola A, Lizio A, et al. Neuromuscul Disord. 2021 May;31(5):409-418.
Awareness screening and referral patterns among pediatricians in the United States related to early clinical features of spinal muscular atrophy (SMA)
Curry, M., Cruz, R., Belter, L. et al. BMC Pediatr. 2021 May 17;21(1):236.
“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
Mazzella A, Curry M, Belter L, Cruz R, Jarecki J. Orphanet J Rare Dis. 2021 Feb 22;16(1):96.
2020
Economic burden of spinal muscular atrophy: An analysis of claims data
Belter L, Cruz R, Kulas S, McGinnis E, Dabbous O, Jarecki J. J Mark Access Health Policy. 2020 Nov 8;8(1):1843277.
Quality of life data for individuals affected by spinal muscular atrophy: A baseline dataset from the Cure SMA Community Update Survey
Belter L, Cruz R, Jarecki J. Orphanet J Rare Dis. 2020 Aug 24;15(1):217.
The SMA Clinical Trial Readiness Program: Creation and evaluation of a program to enhance SMA trial readiness in the United States
Peterson I, Cruz R, Sarr F, Stanley AM, Jarecki J. Orphanet J Rare Dis. 2020 May 22;15(1):118.
2019
Evaluating benefit-risk decision-making in spinal muscular atrophy: A first-ever study to assess risk tolerance in the sma patient community
Cruz R, Belter L, Wasnock M, Nazarelli A, Jarecki J. Clin Ther. 2019 May 3. pii: S0149-2918(19)30127-4.
Cure SMA Real World Evidence Collaboration (RWEC) Publications
Be sure you check out below additional published research and resources from the SMA Industry Collaboration
2025
Spinal muscular atrophy update in best practices: Recommendations for treatment considerations
Schroth MK, Deans J, Bharucha Goebel DX, Burnette WB, Darras BT, Elsheikh BH, Felker MV, Klein A, Krueger J, Proud CM, Veerapandiyan A, Graham RJ. Neurol Clin Pract. 2025 Feb;15(1):e200374. doi: 10.1212/CPJ.0000000000200374. Epub 2024 Oct 8. PMID: 39399564; PMCID: PMC11464225.
2024
Newborn screening and birth prevalence for spinal muscular atrophy in the US
Belter L, Taylor JL, Jorgensen E, Glascock J, Whitmire SM, Tingey JJ, Schroth M. JAMA Pediatr. 2024 Sep 1;178(9):946-949. doi: 10.1001/jamapediatrics.2024.1911. PMID: 39008286; PMCID: PMC11250364.
Spinal muscular atrophy update in best practices: Recommendations for diagnosis considerations
Schroth M, Deans J, Arya K, Castro D, De Vivo DC, Gibbons MA, Ionita C, Kuntz NL, Lakhotia A, Neil Knierbein E, Scoto M, Sejersen T, Servais L, Tian C, Waldrop MA, Vázquez-Costa JF. Neurol Clin Pract. 2024 Aug;14(4):e200310. doi: 10.1212/CPJ.0000000000200310.
Cure SMA APNCR Publications
See additional resources and materials below from the APNCR.
2026
Loss of ambulation in SMA III at the time of disease-modifying treatments
Coratti G, Bovis F, Franchino V, Montes J, Sansone VA, Dunaway Young S, Cutrì C, Pasternak A, Pera MC, Pane M, Glanzman A, Pegoraro E, Duong T, Sogus E, Sframeli M, Messina S, Cavalcante E, Scoto MC, D'Amico A, Rodriguez-Torres R, Mongini T, Maggi L, Coccia M, Filosto M, Zuccarino R, Masson R, Ricci G, Bruno C, Ruggiero L, Vacchiano V, D'errico E, Verriello L, Nigro V, Scarpini G, Garibaldi M, Turri M, Ticci C, Berardinelli A, Agosto C, Ricci F, Zolkipli-Cunningham Z, Darras BT, Day J, Hirano M, Muntoni F, Finkel RS, Mercuri E. J Neurol Neurosurg Psychiatry. 2026 Jan;jnnp-2025-337505. doi: 10.1136/jnnp-2025-337505. PMID: 41617535.
Liver Steatosis in Induced Hepatocytes From Carriers of Spinal Muscular Atrophy
Sun L, Leow DMK, Wang LC, Eio MY, Koh HWL, Khong ZJ, Narayanan G, Teo AKS, Giadone R, Sobota RM, Ng SY, Teo AKK, Ong WY, Rubin LL, Darras BT, Yeo CJJ. Muscle Nerve. 2026;73(5):675–682. doi: 10.1002/mus.70111.
2025
Wearable-Derived Patterns of Performance Fatigability During Gait in Spinal Muscular Atrophy
Montes J, Kanner CH, Duong T, Rodriguez-Torres R, Uher D, Young SD, Farooquee R, Druffner A, Pasternak A, Fragala-Pinkham M, Zanotto D. Muscle Nerve. 2025 Sep;72(3):493-501. doi: 10.1002/mus.28461. PMID: 40557477.
Development of the SMA EFFORT
Rodriguez-Torres R, Kanner CH, Gay EL, Uher D, Corbeil T, Coratti G, Dunaway Young S, Rohwer A, Muni Lofra R, McDermott MP, De Vivo DC, Wall MM, Glynn NW, Montes J. J Neuromuscul Dis. 2025;12(1):22143602241313326. doi: 10.1177/22143602241313326. PMID: 39973458.
The influence of genotype on the natural history of types 1 - 3 spinal muscular atrophy
Sutherland CS, Schneider S, Ribero VA, Simpson A, Kokaliaris C, Scalco RS, Guittari CJ, Gorni K, De Vivo DC, Martens WB, Karrer TM. Neuromuscul Disord. 2025 Feb;47:105270. doi: 10.1016/j.nmd.2024.105270. PMID: 39864377.
Real world evidence on nusinersen treatment of persons with spinal muscular atrophy: a focused scoping review
Matesanz SE, Finkel RS. J Neuromuscul Dis. 2025 Oct;22143602251385045. doi: 10.1177/22143602251385045. PMID: 41137787.
Spinal Muscular Atrophy Functional Composite Score Revised (SMA-FCR) in Untreated and Nusinersen-Treated Patient Cohorts
Pasternak A, McDermott MP, Montes J, Glanzman AM, Coratti G, Dunaway Young S, Duong TT, Martens WB, Day JW, Zolkipli-Cunningham Z, Sansone VA, D'Amico A, Messina S, Bruno C, Mercuri E, De Vivo DC, Darras BT. Neurology. 2025 Jul;105(2):e213839. doi: 10.1212/WNL.0000000000213839. PMID: 40577678.
Characterization of swallowing biomechanics and function in untreated infants with spinal muscular atrophy: A natural history dataset
McGrattan KE, Graham RJ, Mohr AH, Miles A, Allen J, Ochura J, Hernandez K, Walsh K, Rao V, Stevens M, Alfano L, Coker M, Leon-Astudillo C, Smith LS, Brandsema J, Farah H, Welc J, Levy DS, Clements M, Tang WJ, Duong T, Rocha CT, Schenck G, McGhee H, Nichols K, Brown A, Brown A, Castro D, Darras BT. J Neuromuscul Dis. 2025;1(12):70-79. doi: 10.1177/22143602241308762.
Differences in swallowing efficacy of disease modifying treatment between infants receiving pre-symptomatic and symptomatic administration
McGrattan KE, Mohr AH, Miles A, Allen J, Ochura J, Hernandez K, Walsh K, Rao V, Stevens M, McGhee H, Nichols K, Turksi ME, Spoden A, Wilson I, Coker M, Leon-Astudillo C, Smith LS, Brandsema J, Farah H, Welc J, Levy D, Clements M, Duong T, Young SD, Schenck G, Richardson R, Karachunski P, Brown A, Brown A, Castro D, Darras BT, Graham RJ. Orphanet J Rare Dis. 2025;1(20):526. doi: 10.1186/s13023-025-04049-9.
2024
Bulbar function in spinal muscular atrophy (SMA)
McGrattan K, Cerchiari A, Conway E, Berti B, Finkel R, Muntoni F, Mercuri E. Neuromuscul Disord. 2024 May;38:44-50. doi: 10.1016/j.nmd.2024.02.003. PMID: 38565000.
Therapeutic Role of Nusinersen on Respiratory Progression in Pediatric Patients With Spinal Muscular Atrophy Type 2 and Nonambulant Type 3
Trucco F, Ridout D, Weststrate H, Scoto M, Rohwer A, Coratti G, Main ML, Mayhew AG, Montes J, De Sanctis R, Pane M, Pera MC, Sansone VA, Albamonte E, D'Amico A, Bruno C, Messina SS, Childs A, Willis T, Ong MT, Servais L, Majumdar A, Hughes I, Marini-Bettolo C, Parasuraman D, Gowda VL, Baranello G, Bertini ES, De Vivo DC, Darras BT, Day JW, Mayer O, Zolkipli-Cunningham Z, Finkel RS, Mercuri E, Muntoni F, for iSMAc. Neurol Clin Pract. 2024 Jun;14(3):e200298. doi: 10.1212/CPJ.0000000000200298. PMID: 38932995.
Upper limb function changes over 12 months in untreated SMA II and III individuals
Coratti G, Civitello M, Rohwer A, Albamonte E, Montes J, Glanzman AM, Pasternak A, De Sanctis R, Young SD, Duong T, Mizzoni I, Milev E, Sframeli M, Morando S, D'Amico A, Catteruccia M, Brolatti N, Pane M, Scoto M, Messina S, Hirano M, Zolkipli-Cunningham Z, Darras BT, Bertini E, Bruno C, Sansone VA, Salmin F, Day J, Baranello G, Pera MC, Muntoni F, Finkel RS, Mercuri E. Neuromuscul Disord. 2024 Nov;44:104449. doi: 10.1016/j.nmd.2024.08.006. PMID: 39299818.
Disease Trajectories in the Revised Hammersmith Scale in a Cohort of Untreated Patients with Spinal Muscular Atrophy types 2 and 3
Wolfe A, Stimpson G, Ramsey D, Coratti G, Dunaway Young S, Mayhew A, Pane M, Rohwer A, Muni Lofra R, Duong T, O'Reilly E, Milev E, Civitello M, Sansone VA, D'Amico A, Bertini E, Messina S, Bruno C, Albamonte E, Mazzone E, Main M, Montes J, Glanzman AM, Zolkipli-Cunningham Z, Pasternak A, Marini-Bettolo C, Day JW, Darras BT, De Vivo DC, Baranello G, Scoto M, Finkel RS, Mercuri E, Muntoni F. J Neuromuscul Dis. 2024;11(3):665-677. doi: 10.3233/JND-230211. PMID: 38427497.
Beyond Contractures in Spinal Muscular Atrophy
Harding ER, Kanner CH, Pasternak A, Glanzman AM, Dunaway Young S, Rao AK, McDermott MP, Zolkipli-Cunningham Z, Day JW, Finkel RS, Darras BT, De Vivo DC, Montes J. J Clin Med. 2024 Apr;13(9):2634. doi: 10.3390/jcm13092634. PMID: 38731167.
Low Bone Mass in Ambulatory Spinal Muscular Atrophy
Trancho C, Stickney B, Kinirons S, Uher D, Kanner CH, Rao AK, McDermott MP, Garber CE, De Vivo DC, Montes J. doi: 10.3390/jcm13051336.
Hepatocyte-intrinsic SMN deficiency drives metabolic dysfunction and liver steatosis in spinal muscular atrophy
Leow DM, Ng YK, Wang L, Koh HW, Zhao T, Khong ZJ, Tabaglio T, Narayanan G, Giadone RM, Sobota RM, Ng SY, Teo AK, Parson SH, Rubin LL, Ong WY, Darras BT, Yeo CJ. J Clin Invest. 2024;12(134):e173702. doi: 10.1172/JCI173702.
Challenges and opportunities in spinal muscular atrophy therapeutics
Yeo CJJ, Tizzano EF, Darras BT. Lancet Child Adolesc Health. 2024;2(23):205-218. doi: 10.1016/S1474-4422(23)00419-2.
2023
Development of an International SMA Bulbar Assessment for Inter-professional Administration
Dunaway Young S, McGrattan K, Johnson E, van der Heul M, Duong T, Bakke M, Werlauff U, Pasternak A, Cattaneo C, Hoffman K, Fanelli L, Breaks A, Allison K, Baranello G, Finkel R, Coratti G, Lofra RM. J Neuromuscul Dis. 2023;10(4):639-652. doi: 10.3233/JND-221672. PMID: 37212069.
Assessing Bulbar Function in Spinal Muscular Atrophy Using Patient-Reported Outcomes
Dunaway Young S, Pasternak A, Duong T, McGrattan KE, Stranberg S, Maczek E, Dias C, Tang W, Parker D, Levine A, Rohan A, Wolford C, Martens W, McDermott MP, Darras BT, Day JW. J Neuromuscul Dis. 2023;10(2):199-209. doi: 10.3233/JND-221573. PMID: 36776075.
Intrathecal Onasemnogene Abeparvovec for Sitting, Nonambulatory Patients with Spinal Muscular Atrophy
Finkel RS, Darras BT, Mendell JR, Day JW, Kuntz NL, Connolly AM, Zaidman CM, Crawford TO, Butterfield RJ, Shieh PB, Tennekoon G, Brandsema JF, Iannaccone ST, Shoffner J, Kavanagh S, Macek TA, Tauscher-Wisniewski S. J Neuromuscul Dis. 2023;10(3):389-404. doi: 10.3233/JND-221560. PMID: 36911944.
2-Year Change in Revised Hammersmith Scale Scores in a Large Cohort of Untreated Paediatric Type 2 and 3 SMA Participants
Stimpson G, Ramsey D, Wolfe A, Mayhew A, Scoto M, Baranello G, Muni Lofra R, Main M, Milev E, Coratti G, Pane M, Sansone V, D'Amico A, Bertini E, Messina S, Bruno C, Albamonte E, Mazzone ES, Montes J, Glanzman AM, Zolkipli-Cunningham Z, Pasternak A, Duong T, Dunaway Young S, Civitello M, Marini-Bettolo C, Day JW, Darras BT, De Vivo DC, Finkel RS, Mercuri E, Muntoni F. J Clin Med. 2023 Feb;12(5):1920. doi: 10.3390/jcm12051920. PMID: 36902710.
Measuring Fatigue and Fatigability in Spinal Muscular Atrophy (SMA): Challenges and Opportunities
Rodriguez-Torres RS, Uher D, Gay EL, Coratti G, Dunaway Young S, Rohwer A, Muni Lofra R, De Vivo DC, Hirano M, Glynn NW, Montes J. J Clin Med. 2023 May;12(10):3458. doi: 10.3390/jcm12103458. PMID: 37240564.
How is Physical Activity Measured in Spinal Muscular Atrophy and Duchenne Muscular Dystrophy?
Uher D, Yoon L, Garber CE, Montes J. J Neuromuscul Dis. 2023;10(5):897-914. doi: 10.3233/JND-230033. PMID: 37424475.
Perceived exertion is not a substitute for fatiguability in spinal muscular atrophy
Cheng R, Feng J, Goodwin AM, Uher D, Rao AK, McDermott MP, De Vivo DC, Ewing Garber C, Montes J. Muscle Nerve. 2023 Jul;68(1):81-84. doi: 10.1002/mus.27765. PMID: 36484158.
Translating fatigability in spinal muscular atrophy to clinical trials and management
Yeo CJJ, Darras BT. Muscle Nerve. 2023 Jul;68(1):6-7. doi: 10.1002/mus.27831. PMID: 37086214.
Disease Burden of Spinal Muscular Atrophy: A Comparative Cohort Study Using Insurance Claims Data in the USA
Mouchet J, Roumpanis S, Gaki E, Lipnick S, Oskoui M, Scalco RS, Darras BT. J Neuromuscul Dis. 2023;1(10):41-53. doi: 10.3233/JND-210764.
Patients with Spinal Muscular Atrophy Type 1 Achieve and Maintain Bulbar Function Following Onasemnogene Abeparvovec Treatment
McGrattan KE, Shell RD, Hurst-Davis R, Young SD, O'Brien E, Lavrov A, Wallach S, LaMarca N, Reyna SP, Darras BT. J Neuromuscul Dis. 2023;4(10):531-540. doi: 10.3233/JND-221531.
Onasemnogene abeparvovec preserves bulbar function in infants with presymptomatic spinal muscular atrophy: a post-hoc analysis of the SPR1NT trial
Shell RD, McGrattan KE, Hurst-Davis R, Young SD, Baranello G, Lavrov A, O'Brien E, Wallach S, LaMarca N, Reyna SP, Darras BT. Neuromuscul Disord. 2023;8(33):670-676. doi: 10.1016/j.nmd.2023.06.005.
2022
Onasemnogene abeparvovec for presymptomatic infants with two copies of SMN2 at risk for spinal muscular atrophy type 1
Strauss KA, Farrar MA, Muntoni F, Saito K, Mendell JR, Servais L, McMillan HJ, Finkel RS, Swoboda KJ, Kwon JM, Zaidman CM, Chiriboga CA, Iannaccone ST, Krueger JM, Parsons JA, Shieh PB, Kavanagh S, Tauscher-Wisniewski S, McGill BE, Macek TA. Nat Med. 2022 Jul;28(7):1381-1389. doi: 10.1038/s41591-022-01866-4. PMID: 35715566.
Distribution of weight, stature, and growth status in children and adolescents with spinal muscular atrophy
Darras BT, Guye S, Hoffart J, Schneider S, Gravestock I, Gorni K, Fuerst-Recktenwald S, Scalco RS, Finkel RS, De Vivo DC. Muscle Nerve. 2022 Jul;66(1):84-90. doi: 10.1002/mus.27556. PMID: 35385150.
A tale of two diseases: spinal muscular atrophy and Pompe disease
Yeo CJJ, Darras BT. Lancet Child Adolesc Health. 2022;1(6):2-3. doi: 10.1016/S2352-4642(21)00351-5.
Ethical Perspectives on Treatment Options with Spinal Muscular Atrophy Patients
Yeo CJJ, Simmons Z, De Vivo DC, Darras BT. Ann Neurol. 2022;3(91):305-316. doi: 10.1002/ana.26299.
Reply to: The 4-Copy Conundrum in the Treatment of Infants with Spinal Muscular Atrophy
Yeo CJJ, Simmons Z, De Vivo DC, Darras BT. Ann Neurol. 2022;6(91):892. doi: 10.1002/ana.26357.
Nusinersen for Patients With Spinal Muscular Atrophy: 1415 Doses via an Interdisciplinary Institutional Approach
Madan E, Carrié S, Donado C, Lobo K, Souris M, Laine R, Beers E, Cornelissen L, Darras BT, Koka A, Riley B, Dinakar P, Stone S, Snyder B, Graham RJ, Padua H, Sethna N, Berde C. Pediatr Neurol. 2022;33-40. doi: 10.1016/j.pediatrneurol.2022.04.008.
Safety and efficacy of risdiplam in patients with type 1 spinal muscular atrophy (FIREFISH part 2): secondary analyses from an open-label trial
Masson R, Mazurkiewicz-Bełdzińska M, Rose K, Servais L, Xiong H, Zanoteli E, Baranello G, Bruno C, Day JW, Deconinck N, Klein A, Mercuri E, Vlodavets D, Wang Y, Dodman A, El-Khairi M, Gorni K, Jaber B, Kletzl H, Gaki E, Fontoura P, Darras BT, FIREFISH Study Group. Lancet Child Adolesc Health. 2022;12(21):1110-1119. doi: 10.1016/S1474-4422(22)00339-8.
A post pandemic roadmap toward remote assessment for neuromuscular disorders: limitations and opportunities
Montes J, Eichinger KJ, Pasternak A, Yochai C, Krosschell KJ. Orphanet J Rare Dis. 2022;17(1):5. doi: 10.7916/tt09-h188.
2021
Onasemnogene abeparvovec gene therapy for symptomatic infantile-onset spinal muscular atrophy in patients with two copies of SMN2 (STR1VE)
Day JW, Finkel RS, Chiriboga CA, Connolly AM, Crawford TO, Darras BT, Iannaccone ST, Kuntz NL, Peña LDM, Shieh PB, Smith EC, Kwon JM, Zaidman CM, Schultz M, Feltner DE, Tauscher-Wisniewski S, Ouyang H, Chand DH, Sproule DM, Macek TA, Mendell JR. Lancet Neurol. 2021 Apr;20(4):284-293. doi: 10.1016/S1474-4422(21)00001-6. PMID: 33743238.
Nusinersen Treatment in Adults With Spinal Muscular Atrophy
Duong T, Wolford C, McDermott MP, Macpherson CE, Pasternak A, Glanzman AM, Martens WB, Kichula E, Darras BT, De Vivo DC, Zolkipli-Cunningham Z, Finkel RS, Zeineh M, Wintermark M, Sampson J, Hagerman KA, Young SD, Day JW. Neurol Clin Pract. 2021 Jun;11(3):e317-e327. doi: 10.1212/CPJ.0000000000001033. PMID: 34476123.
Age related treatment effect in type II Spinal Muscular Atrophy pediatric patients treated with nusinersen
Coratti G, Pane M, Lucibello S, Pera MC, Pasternak A, Montes J, Sansone VA, Duong T, Dunaway Young S, Messina S, D'Amico A, Civitello M, Glanzman AM, Bruno C, Salmin F, Tacchetti P, Carnicella S, Sframeli M, Antonaci L, Frongia AL, De Vivo DC, Darras BT, Day J, Bertini E, Muntoni F, Finkel R, Mercuri E. Neuromuscul Disord. 2021 Jul;31(7):596-602. doi: 10.1016/j.nmd.2021.03.012. PMID: 34099377.
Different trajectories in upper limb and gross motor function in spinal muscular atrophy
Coratti G, Pera MC, Montes J, Pasternak A, Scoto M, Baranello G, Messina S, Dunaway Young S, Glanzman AM, Duong T, De Sanctis R, Mazzone ES, Milev E, Rohwer A, Civitello M, Pane M, Antonaci L, Frongia AL, Sframeli M, Vita GL, DʼAmico A, Mizzoni I, Albamonte E, Darras BT, Bertini E, Sansone VA, Bovis F, Day J, Bruno C, Muntoni F, De Vivo DC, Finkel R, Mercuri E. Muscle Nerve. 2021 Nov;64(5):552-559. doi: 10.1002/mus.27384. PMID: 34327716.
Nusinersen in pediatric and adult patients with type III spinal muscular atrophy
Pera MC, Coratti G, Bovis F, Pane M, Pasternak A, Montes J, Sansone VA, Dunaway Young S, Duong T, Messina S, Mizzoni I, D'Amico A, Civitello M, Glanzman AM, Bruno C, Salmin F, Morando S, De Sanctis R, Sframeli M, Antonaci L, Frongia AL, Rohwer A, Scoto M, De Vivo DC, Darras BT, Day J, Martens W, Patanella KA, Bertini E, Muntoni F, Finkel R, Mercuri E. Ann Clin Transl Neurol. 2021 Aug;8(8):1622-1634. doi: 10.1002/acn3.51411. PMID: 34165911.
Risdiplam-Treated Infants with Type 1 Spinal Muscular Atrophy versus Historical Controls
Darras BT, Masson R, Mazurkiewicz-Bełdzińska M, Rose K, Xiong H, Zanoteli E, Baranello G, Bruno C, Vlodavets D, Wang Y, El-Khairi M, Gerber M, Gorni K, Khwaja O, Kletzl H, Scalco RS, Fontoura P, Servais L. N Engl J Med. 2021;5(385):427-435. doi: 10.1056/NEJMoa2102047.
Yeo and Darras: Extraneuronal Phenotypes of Spinal Muscular Atrophy
Yeo CJJ, Darras BT. Ann Neurol. 2021;1(89):24-26. doi: 10.1002/ana.25930.
Dysphagia Phenotypes in Spinal Muscular Atrophy
McGrattan KE, Graham RJ, DiDonato CJ, Darras BT. Am J Speech Lang Pathol. 2021 May;30(3):1008-1022. doi: 10.1044/2021_AJSLP-20-00217. PMID: 33822657.
Psychometric properties of the PEDI-CAT for children and youth with spinal muscular atrophy
Fragala-Pinkham M, Pasternak A, McDermott MP, Mirek E, Glanzman AM, Montes J, Dunaway Young S, Salazar R, Quigley J, Riley SO, Chiriboga CA, Finkel RS, Tennekoon G, Martens WB, De Vivo DC, Darras BT. J Pediatr Rehabil Med. 2021;14(3):451-461. doi: 10.3233/PRM-190664. PMID: 34275913.
2020
Revised Recommendations for the Treatment of Infants Diagnosed with Spinal Muscular Atrophy Via Newborn Screening Who Have 4 Copies of SMN2
Glascock J, Sampson J, Connolly AM, Darras BT, Day JW, Finkel R, Howell RR, Klinger KW, Kuntz N, Prior T, Shieh PB, Crawford TO, Kerr D, Jarecki J. J Neuromuscul Dis. 2020;2(7):97-100. doi: 10.3233/JND-190468.
Overturning the Paradigm of Spinal Muscular Atrophy as Just a Motor Neuron Disease
Yeo CJJ, Darras BT. Pediatr Neurol. 2020;10-19. doi: 10.1016/j.pediatrneurol.2020.01.003.
2019
Development of an academic disease registry for spinal muscular atrophy
Mercuri E, Finkel R, Scoto M, Hall S, Eaton S, Rashid A, Balashkina J, Coratti G, Pera MC, Samsuddin S, Civitello M, Muntoni F. Neuromuscul Disord. 2019 Oct;29(10):794-799. doi: 10.1016/j.nmd.2019.08.014. PMID: 31558335.
Revised upper limb module for spinal muscular atrophy
Pera MC, Coratti G, Mazzone ES, Montes J, Scoto M, De Sanctis R, Main M, Mayhew A, Muni Lofra R, Dunaway Young S, Glanzman AM, Duong T, Pasternak A, Ramsey D, Darras B, Day JW, Finkel RS, De Vivo DC, Sormani MP, Bovis F, Straub V, Muntoni F, Pane M, Mercuri E. Muscle Nerve. 2019 Apr;59(4):426-430. doi: 10.1002/mus.26419. PMID: 30677148.
Systemic nature of spinal muscular atrophy revealed by studying insurance claims
Lipnick SL, Agniel DM, Aggarwal R, Makhortova N, Finlayson SG, Brocato A, Palmer N, Darras BT, Kohane I, Rubin LL. PLoS One. 2019;3(14):e0213680. doi: 10.1371/journal.pone.0213680.
Neurofilament as a potential biomarker for spinal muscular atrophy
Darras BT, Crawford TO, Finkel RS, Mercuri E, De Vivo DC, Oskoui M, Tizzano EF, Ryan MM, Muntoni F, Zhao G, Staropoli J, McCampbell A, Petrillo M, Stebbins C, Fradette S, Farwell W, Sumner CJ. Ann Clin Transl Neurol. 2019;5(6):932-944. doi: 10.1002/acn3.779.
Nusinersen in later-onset spinal muscular atrophy: Long-term results from the phase 1/2 studies
Darras BT, Chiriboga CA, Iannaccone ST, Swoboda KJ, Montes J, Mignon L, Xia S, Bennett CF, Bishop KM, Shefner JM, Green A, Sun P, Bhan I, Gheuens S, Schneider E, Farwell W, De Vivo DC. Neurology. 2019;21(92):e2491-e2506. doi: 10.1212/WNL.0000000000007527.
Nusinersen improves walking distance and reduces fatigue in later-onset spinal muscular atrophy
Montes J, Dunaway Young S, Mazzone ES, Pasternak A, Glanzman AM, Finkel RS, Darras BT, Muntoni F, Mercuri E, De Vivo DC, Bishop KM, Schneider E, Bennett CF, Foster R, Farwell W. Muscle Nerve. 2019;60(4):409-414. doi: 10.1002/mus.26633.
An Integrated Safety Analysis of Infants and Children with Symptomatic Spinal Muscular Atrophy (SMA) Treated with Nusinersen in Seven Clinical Trials
Darras BT, Farrar MA, Mercuri E, Finkel RS, Foster R, Hughes SG, Bhan I, Farwell W, Gheuens S. CNS Drugs. 2019;33(9):919-932. doi: 10.1007/s40263-019-00656-w.
2018
Ambulatory function in spinal muscular atrophy
Montes J, McDermott MP, Mirek E, Mazzone ES, Main M, Glanzman AM, Duong T, Young SD, Salazar R, Pasternak A, Gee R, De Sanctis R, Coratti G, Forcina N, Fanelli L, Ramsey D, Milev E, Civitello M, Pane M, Pera MC, Scoto M, Day JW, Tennekoon G, Finkel RS, Darras BT, Muntoni F, De Vivo DC, Mercuri E. PLoS One. 2018;13(6):e0199657. doi: 10.1371/journal.pone.0199657. PMID: 29944707.
Quantitative Evaluation of Lower Extremity Joint Contractures in Spinal Muscular Atrophy
Salazar R, Montes J, Dunaway Young S, McDermott MP, Martens W, Pasternak A, Quigley J, Mirek E, Glanzman AM, Civitello M, Gee R, Duong T, Mazzone ES, Main M, Mayhew A, Ramsey D, Muni Lofra R, Coratti G, Fanelli L, De Sanctis R, Forcina N, Chiriboga C, Darras BT, Tennekoon GI, Scoto M, Day JW, Finkel R, Muntoni F, Mercuri E, De Vivo DC. Pediatr Phys Ther. 2018 Jul;30(3):209-215. doi: 10.1097/PEP.0000000000000515. PMID: 29924070.
Pilot study of population-based newborn screening for spinal muscular atrophy in New York state
Kraszewski JN, Kay DM, Stevens CF, Koval C, Haser B, Ortiz V, Albertorio A, Cohen LL, Jain R, Andrew SP, Young SD, LaMarca NM, De Vivo DC, Caggana M, Chung WK. Genet Med. 2018 Jun;20(6):608-613. doi: 10.1038/gm2017.152. PMID: 29758563.
Comprehensive nutritional and metabolic assessment in patients with spinal muscular atrophy
Martinez EE, Quinn N, Arouchon K, Anzaldi R, Tarrant S, Ma NS, Griffin J, Darras BT, Graham RJ, Mehta NM. Neuromuscul Disord. 2018 Jun;28(6):512-519. doi: 10.1016/j.nmd.2018.03.009. PMID: 29699728.
Precious SMA natural history data: A benchmark to measure future treatment successe
Darras BT, De Vivo DC. Neurology. 2018;8(91):337-339. doi: 10.1212/WNL.0000000000006026.
2016
Rasch Analysis of the Pediatric Evaluation of Disability Inventory-Computer Adaptive Test (CAT) Item Bank for Children and Young Adults with Spinal Muscular Atrophy (SMA)
Amy Pasternak GSMFAMGJMSDRSJQSPSOJGCCRFGTWBMMPMHSFLMTHRECNMLNMVDCDVBTD. Muscle Nerve. 2016;54(6):1097-1107. doi: 10.1002/mus.25164.
SMA-IC Online Resources and Materials
SMA Community Risk Tolerance Update: Comparison of 2022 and 2017 SMA Risk/Benefit Survey Data
Published February 2025
Patient-led Listening Session Summary: The Shifting Landscape of Spinal Muscular Atrophy (SMA) and Unmet Needs Across the SMA Population
FDA Summary, October 2022.
2022 Cure SMA Risk Benefit Survey
Published December 2023.
Critical Path Innovation Meeting (CPIM) Briefing Packet
Published August 2020.
SMA Spotlight: The Spinal Muscular Atrophy Treatment Landscape
Supplement published in collaboration with Neurology Reviews, March 2020.
SMA Spotlight: The Urgent Need for Early Diagnosis in SMA
Supplement published in collaboration with Neurology Reviews, December 2019.
Scientific Considerations for Drug Combinations
Part of Cure SMA Care Series Booklets, November 2019.
SMA Clinical Trial Readiness Resource Hub
Published November 2019.
SMArt Moves Early Diagnosis Campaign Microsite
Published December 2018.
SMA Voice of the Patient Report
Disseminated to the FDA January 2018.
