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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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

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.

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.

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.

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.

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.

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

Krosschell KJ, Dunaway Young S, Peterson I, et al. Phys Ther. 2022;102(10).

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.

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.

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.

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.

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.