Cure SMA Funding Leads to 16 New Research Publications in 2018

An important goal of our research funding strategy is to share scientific findings with the broader scientific community. Scientists who receive Cure SMA funding often publish their findings in peer-reviewed journals. This means that other scientists can learn from their results, which will pay dividends across the wider landscape of SMA research—allowing us to multiply the impact of our funding.

In 2018, Cure SMA-funded research led to the publishing of seventeen journal articles. Journal publishing is competitive, and only the best and most intriguing results are published. Congratulations to all these authors on their accomplishment. Thank you for helping us move SMA research forward.

  1. An Evidence-Based, Community-Engaged Approach to Develop an Interactive Deliberation Tool for Pediatric Neuromuscular Trials. Moultrie RR, Lewis MA, Paquin RS, Lucas A, Jarecki J, Peay HL. J Genet Couns. 2017 Dec 20. doi: 10.1007/s10897-017-0190-8. [Epub ahead of print]
  2. Patient Reported Impact of Symptoms in Spinal Muscular Atrophy (PRISM-SMA). Mongiovi P, Dilek N, Garland C, Hunter M, Kissel JT, Luebbe E, McDermott MP, Johnson N, Heatwole C. Neurology. 2018 Aug
  3. Recruitment & retention program for the NeuroNEXT SMA Biomarker Study: Super Babies for SMA! Bartlett A, Kolb SJ, Kingsley A, Swoboda KJ, Reyna SP, Sakonju A, Darras BT, Shell R, Kuntz N, Castro D, Iannaccone ST, Parsons J, Connolly AM, Chiriboga CA, McDonald C, Burnette WB, Werner K, Thangarajh M, Shieh PB, Finanger E, Coffey CS, Yankey JW, Cudkowicz ME, McGovern MM, McNeil DE, Arnold WD, Kissel JT; NeuroNEXT Clinical Trial Network and on behalf of the NN101 SMA Biomarker Investigators. Contemp Clin Trials Commun. 2018 Jul 20;11:113-119. doi: 10.1016/j.conctc.2018.07.002. eCollection 2018 Sep.
  4. A complex of C9ORF72 and p62 uses arginine methylation to eliminate stress granules by autophagy. Chitiprolu M, Jagow C, Tremblay V, Bondy-Chorney E, Paris G, Savard A, Palidwor G, Barry FA, Zinman L, Keith J, Rogaeva E, Robertson J, Lavallée-Adam M, Woulfe J, Couture JF, Côté J, Gibbings D. Nat Commun. 2018 Jul 18;9(1):2794. doi: 10.1038/s41467-018-05273-7.
  5. Neuronal activity regulates DROSHA via autophagy in spinal muscular atrophy. Gonçalves IDCG, Brecht J, Thelen MP, Rehorst WA, Peters M, Lee HJ, Motameny S, Torres-Benito L, Ebrahimi-Fakhari D, Kononenko NL, Altmüller J, Vilchez D, Sahin M, Wirth B, Kye MJ. Sci Rep. 2018 Jul 3;8(1):10294. doi: 10.1038/s41598-018-28202-6.
  6. Comprehensive nutritional and metabolic assessment in patients with spinal muscular atrophy: Opportunity for an individualized approach. 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. Epub 2018 Mar 19.
  7. Treatment Algorithm for Infants Diagnosed with Spinal Muscular Atrophy through Newborn Screening. Glascock J, Sampson J, Haidet-Phillips A, Connolly A, Darras B, Day J, Finkel R, Howell RR, Klinger K, Kuntz N, Prior T, Shieh PB, Crawford TO, Kerr D, Jarecki J. J Neuromuscul Dis. 2018;5(2):145-158. doi: 10.3233/JND-180304.
  8. 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. doi: 10.3233/JND-170292.
  9. Barriers and facilitators to clinical trial participation among parents of children with pediatric neuromuscular disorders. Peay HL, Biesecker BB, Wilfond BS, Jarecki J, Umstead KL, Escolar DM, Tibben A. Clin Trials. 2018 Apr;15(2):139-148. doi: 10.1177/1740774517751118. Epub 2018 Feb 23.
  10. Diagnosis and management of spinal muscular atrophy: Part 2: Pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics. Finkel RS, Mercuri E, Meyer OH, Simonds AK, Schroth MK, Graham RJ, Kirschner J, Iannaccone ST, Crawford TO, Woods S, Muntoni F, Wirth B, Montes J, Main M, Mazzone ES, Vitale M, Snyder B, Quijano-Roy S, Bertini E, Davis RH, Qian Y, Sejersen T; SMA Care group. Neuromuscul Disord. 2018 Mar;28(3):197-207. doi: 10.1016/j.nmd.2017.11.004. Epub 2017 Nov 23
  11. Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care. Mercuri E, Finkel RS, Muntoni F, Wirth B, Montes J, Main M, Mazzone ES, Vitale M, Snyder B, Quijano-Roy S, Bertini E, Davis RH, Meyer OH, Simonds AK, Schroth MK, Graham RJ, Kirschner J, Iannaccone ST, Crawford TO, Woods S, Qian Y, Sejersen T; SMA Care Group.
  12. Survival Motor Neuron Protein is Released from Cells in Exosomes: A Potential Biomarker for Spinal Muscular Atrophy. Nash LA, McFall ER, Perozzo AM, Turner M, Poulin KL, De Repentigny Y, Burns JK, McMillan HJ, Warman Chardon J, Burger D, Kothary R, Parks RJ.
  13. Mild SMN missense alleles are only functional in the presence of SMN2 in mammals. Iyer CC, Corlett KM, Massoni-Laporte A, Duque SI, Madabusi N, Tisdale S, McGovern VL, Le TT, Zaworski PG, David Arnold W, Pellizzoni L, Burghes AHM. Hum Mol Genet. 2018 Jul 6. doi: 10.1093/hmg/ddy251. [Epub ahead of print]
  14. Identifying Opportunities to Provide Family-centered Care for Families With Children With Type 1 Spinal Muscular Atrophy. Murrell DV, Crawford CA, Jackson CT, Lotze TE, Wiemann CM. J Pediatr Nurs. 2018 Sep 25. pii: S0882-5963(18)30126-X. doi: 10.1016/j.pedn.2018.09.007
  15. Motor Function Test Reliability During the NeuroNEXT Spinal Muscular Atrophy Infant Biomarker Study. Krosschell KJ, Bosch M, Nelson L, Duong T, Lowes LP, Alfano LN, Benjamin D, Carry TB, Devine G, Kelley C, Gadekan R, Malkus EC, Pasternak A, Provance-Orr S, Roemeiser-Logan L, Nicorici A, Trussell D, Young SD, Fetterman JR, Montes J, Powers PJ, Quinones R, Quigley J, Coffey CS, Yankey JW, Bartlett A, Kissel JT, Kolb SJ; NeuroNEXT Clinical Trial Network and on behalf of the NN101 SMA Biomarker Investigators. J Neuromuscul Dis. 2018;5(4):509-521. doi: 10.3233/JND-180327.
  16. Abnormal Golgi morphology and decreased COPI function in cells with low levels of SMN. Custer SK, Foster JN, Astroski JW, Androphy EJ. Brain Res. 2018 Nov 5. pii: S0006-8993(18)30557-2. doi: 10.1016/j.brainres.2018.11.005. [Epub ahead of print]

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