Cure SMA and its partners publish papers related to the important research on SMA. Below is the latest SMA and Cure SMA published research relevant to the treatment and care of SMA.

Cure SMA Funded Research Publications

Be sure you check out below additional published research and resources from the SMA Industry Collaboration

2021

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.

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;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; Journal of Neuromuscular Diseases, vol. 7, no. 4, pp. 459-466, 2020

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-

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.

SMN-deficiency disrupts SERCA2 expression and intracellular Ca2+ 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.

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.

SMA-IC Online Resources and Materials

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 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.