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Richard S. Finkel, MD
Richard S. Finkel, MD

Richard S. Finkel, MD

Member, St. Jude Faculty

  • Director, Translational Neurology Division

Departments

Divisions

Translational Neurology

Education

MD - Washington University, St. Louis
Neurology Fellowship (Neurology) - Children’s, Beth Israel, Brigham and Women’s and VA Hospitals, Harvard Medical School, Boston
Internship and Residency (Pediatrics) - Children's Hospital Boston, Harvard Medical School, Boston
BA (Chemistry) - Washington and Jefferson College

Honors & Awards

  • 2017  Bengt Hagberg memorial lecture, Swedish Neuropediatric Society
  • 2018  Sidney Carter Child Neurology Award, American Academy of Neurology
  • 2019  Co-awardee of the International Prize for Translational Neuroscience of the Gertrud Reemtsma Foundation of the Max Plank Institute

Research interests

  • Participation in clinical trials with investigational drugs for pediatric neurologic and metabolic diseases
  • Development of outcome measures, biomarkers, and clinical trial design for pediatric neurologic diseases
  • Understanding the trajectories of change in pediatric neuromuscular diseases: spinal muscular atrophy, Duchenne muscular dystrophy, and Charcot-Marie-Tooth inherited neuropathies.

Selected Publications

Spinal Muscular Atrophy

Finkel RS, Chiriboga CA, Vajsar J, Day JW, Montes J, De Vivo DC, Yamashita M, Rigo F, Hung G, Schneider E, Norris DA, Xia S, Bennett CF, Bishop KM. Nusinersen treatment of infantile-onset spinal muscular atrophy. Lancet 388(10063):3017-3026, 2017.

Finkel RS, Mercuri E, Darras BT, Connolly AM, Kuntz NL, Kirschner J, Chiriboga CA, Saito K, Servais L, Tizzano E, Topaloglu H, Tulinius M, Montes J, Glanzman AM, Bishop K, Zhong ZJ, Gheuens S, Bennett CF, Schneider E, Farwell W, De Vivo DC; ENDEAR Study Group. Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy. N Engl J Med Nov 2;377(18):1723-1732, 2017.

Mercuri E, Darras BT, Chiriboga CA, Day JW, Campbell C, Connolly AM, Iannaccone ST, Kirschner J, Kuntz NL, Saito K, Shieh PB, Tulinius M, Mazzone ES, Montes J, Bishop KM, Yang Q, Foster R, Gheuens S, Bennett CF, Farwell W, Schneider E, De Vivo DC, Finkel RS; CHERISH Study Group. Nusinersen versus Sham Control in Later-Onset Spinal Muscular Atrophy. N Engl J Med Feb 15;378(7):625-635, 2018.

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. Onasemnogene abeparvovec gene therapy for symptomatic infantile-onset spinal muscular atrophy in patients with two copies of SMN2 (STR1VE): an open-label, single-arm, multicentre, phase 3 trial. Lancet Neurol Apr;20(4):284-293, 2021. doi: 10.1016/S1474-4422(21)00001-6. Epub 2021 Mar 17. PMID: 33743238

MacCannell D, Berger Z, East L, Mercuri E, Kirschner J, Muntoni F, Farrar MA, Peng J, Zhou J, Nestorov I, Farwell W, Finkel RS. Population pharmacokinetics–based recommendations for a single delayed or missed dose of nusinersen. Neuromusc Disord 2021; on-line 14 Feb 2021.

Finkel RS, McDermott MP, Kaufmann P, Darras BT, Chung WK, Sproule DM, Kang PB, Foley AR, Yang ML, Martens WB, Oskoui M, Glanzman AM, Flickinger J, Montes J, Dunaway S, O'Hagen J, Quigley J, Riley S, Benton M, Ryan PA, Montgomery M, Marra J, Gooch C, De Vivo DC. Observational Study of Spinal Muscular Atrophy Type I and Implications for Clinical Trials. Neurology Aug 26;83(9):810-7, 2014.

Mercuri E, Lucibello S, Perulli M, Coratti G, de Sanctis R, Pera MC, Pane M, Montes J, de Vivo DC, Darras BT, Kolb SJ, Finkel RS. Longitudinal natural history of type I spinal muscular atrophy: a critical review. Orphanet J Rare Dis 15(1):84, 2020. Published 2020 Apr 5. doi:10.1186/s13023-020-01356-1. PMID: 32248834

Finkel R, Bertini E, Muntoni F and Mercuri E. 209th ENMC International Workshop: Outcome Measures and Clinical Trial Readiness in Spinal Muscular Atrophy 7–9 November 2014, Heemskerk, The Netherlands. Neuromusc Disord Jul;25(7):593-602, 2015. doi.org/10.1016/j.nmd.2015.04.009,epub 2 June 2015

Finkel RS, Sejersen T, Mercuri E; ENMC SMA Workshop Study Group. 218th ENMC International Workshop: Revisiting the consensus on standards of care in SMA, Naarden, The Netherlands, 19-21 February 2016. Neuromuscul Disord 2017 Mar 2. pii: S0960-8966(17)30138-4.

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. Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care. Neuromuscul Disord 2017 Nov 23. pii: S0960-8966(17)31284-1. *co-first authors

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. Diagnosis and management of spinal muscular atrophy: Part 2: Pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics. Neuromuscul Disord 2017 Nov23. pii:S0960-8966(17)31290-7. *co-first authors

Tizzano EF and Finkel RS. Spinal muscular atrophy: a changing phenotype beyond the clinical trials.  Neuromuscul Disord Oct;27(10):883-889, 2017.

Harding B, Kariya S, Monani UR, Chung WK, Benton M, Yum SW, Tennekoon G and Finkel RS.  Spectrum of Neuropathophysiology in Spinal Muscular Atrophy Type I. J Neuropathology and Exp Neurology 2014.

Finkel RS, Weiner DJ, Mayer OH, McDonough JM, Panitch HB. Respiratory muscle function in infants with spinal muscular atrophy type I. Pediatr Pulmonol Apr 29, 2014.

Finkel RS, Crawford TO, Swoboda KJ, Kaufmann P, Juhasz P,  Li X, Guo Y, Li RH, Trachtenberg F, Forrest SJ, Chen KS, Kobayashi D,  Joyce CL, Plasterer T, On behalf of the Pilot Study of Biomarkers for Spinal Muscular Atrophy (BforSMA) Trial Group. Candidate Proteins, Metabolites and Transcripts in the Biomarkers for Spinal Muscular Atrophy (BforSMA) Clinical Study. PLoS ONE 7(4): e35462. doi:10.1371/journal.pone.0035462

Glanzman AM, McDermott MP, Montes J, Martens WB, Flickinger F,  Riley S, Quigley J, O’Hagen  J, Pandya  S, Deng L, Chung WK, Tawil R,  Darras  BT, De Vivo  DC, Kaufmann P, Finkel RS, for The Pediatric Neuromuscular Clinical Research Network for Spinal Muscular Atrophy (PNCR); and the Muscle Study Group (MSG).  Validation of the Children’s Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND).  Pediatr Phys Ther 23(4):322-6, 2011. PMID: 22090068

Glanzman AM, O’Hagen, JM, McDermott MP, Martens WB, Flickinger J, Riley S, Quigley J, Montes J, Dunaway S, Deng L, Chung WK, Tawil R, Darras BT, De Vivo DC, Kaufmann P, and Finkel RS; The Pediatric Neuromuscular Clinical Research Network for Spinal Muscular Atrophy (PNCR), and the Muscle Study Group (MSG). Validation of the Expanded Hammersmith Functional Motor Scale in Spinal Muscular Atrophy Type II and III. J Child Neurol 12:1499-507, 2011. PMID: 21940700

Duchenne Muscular Dystrophy

Finkel RS, Flanigan KM, Wong B, Bönnemann C, Sampson J, Sweeney HL, Reha A, Northcutt VJ, Elfring G, Barth J, Peltz SW. Phase 2a study of ataluren-mediated dystrophin production in patients with nonsense mutation Duchenne muscular dystrophy. PLoS One Dec 11;8(12):e81302, 2013. doi: 10.1371/journal.pone.0081302. eCollection 2013

Finkel RS. Readthrough strategies for suppression of nonsense mutations in Duchenne/Becker muscular dystrophy: aminoglycosides and ataluren (PTC124). J Child Neurol 25:1158-64, 2010. PMID: 20519671

Finkel RS, Finanger R, Vandenborne K, Bista P, Nichols A, Donovan J. Disease-Modifying Effects of Edasalonexent, an NF-κB Inhibitor, in Young Boys with Duchenne Muscular Dystrophy: Results of the MoveDMD Phase 2 and Open Label Extension Trial. Neuromusc Disord 2021. pub online Feb 3, 2021. https://doi.org/10.1016/j.nmd.2021.02.001

Mayer OH, Finkel RS, Rummey C, Benton MJ, Glanzman AM, Flickinger J, Lindström BM, Meier T. Characterization of pulmonary function in Duchenne Muscular Dystrophy. Pediatr Pulmonol Mar 9, 2015.

Gissy JJ, Johnson T, Fox DJ, Kumar A, Ciafaloni E, van Essen AJ, Peay HL, Martin A, Lucas A, Finkel RS. Delayed onset of ambulation in boys with Duchenne muscular dystrophy: Potential use as an endpoint in clinical trials. Neuromuscul Disord Oct;27(10):905-910, 2017.

Bushby K*, Finkel R*, Wong B, Barohn R, Campbell C, Comi GP, Connolly AM, Day JW, Flanigan KM, Goemans N, Jones KJ, Mercuri E, Quinlivan R, Renfroe JB, Russman B, Ryan MM, Tulinius M, Voit T, Moore SA, Lee Sweeney H, Abresch RT, Coleman KL, Eagle M, Florence J, Gappmaier E, Glanzman AM, Henricson E, Barth J, Elfring GL, Reha A, Spiegel RJ, O'donnell MW, Peltz SW, McDonald CM; PTC124-GD-007-DMD STUDY GROUP. Ataluren treatment of patients with nonsense mutation dystrophinopathy. Muscle Nerve Oct;50(4):477-87, 2014. * Contributed equally as co-first authors.

Forbes SC, Walter GA, Rooney WD, Wang DJ, DeVos S, Pollaro J, Triplett W, Lott DJ, Willcocks RJ, Senesac C, Daniels MJ, Byrne BJ, Russman B, Finkel RS, Meyer JS, Sweeney HL, Vandenborne K. Skeletal muscles of ambulant children with Duchenne muscular dystrophy: validation of multicenter study of evaluation with MR imaging and MR spectroscopy. Radiology Oct;269(1):198-207, 2013.

Bushby K, Finkel R, Birnkrant DJ, Case LE, Clemens PR, Cripe L, Kaul A, Kinnett K, McDonald C, Pandya S, Poysky J, Shapiro F, Tomezsko J, Constantin C; DMD Care Considerations Working Group. The Diagnosis and Management of Duchenne Muscular Dystrophy–Part 2. Implementation of Multidisciplinary Care. Lancet Neurol 9:177-189, 2010.

Bushby K, Finkel R, Birnkrant DJ, Case LE, Clemens PR, Cripe L, Kaul A, Kinnett K, McDonald C, Pandya S, Poysky J, Shapiro F, Tomezsko J, Constantin C; DMD Care Considerations Working Group. The Diagnosis and Management of Duchenne Muscular Dystrophy–Part 1. Diagnosis, Pharmacological and Psychosocial Management. Lancet Neurol 9:77-93, 2010.

Last update: March 2021