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

Richard S. Finkel, MD

Member, St. Jude Faculty

  • Director, Center for Experimental Neurotherapeutics

Departments

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

Yiu EM, Bray P, Baets J, Baker SK, Barisic N, de Valle K, Estilow T, Farrar MA, Finkel RS, Haberlová J, Kennedy RA, Moroni I, Nicholson GA, Ramchandren S, Reilly MM, Rose K, Shy ME, Siskind CE, Yum SW, Menezes MP, Ryan MM, Burns J. Clinical practice guideline for the management of paediatric Charcot-Marie-Tooth disease. J Neurol Neurosurg Psychiatry 93(5):530-538, 2022.

Guglieri M, Bushby K, McDermott MP, Hart KA, Tawil R, Martens WB, Herr BE, McColl E, Speed C, Wilkinson J, Kirschner J, King WM, Eagle M, Brown MW, Willis T, Griggs RC, Straub V, van Ruiten H, Childs AM, Ciafaloni E, Shieh PB, Spinty S, Maggi L, Baranello G, Butterfield RJ, Horrocks IA, Roper H, Alhaswani Z, Flanigan KM, Kuntz NL, Manzur A, Darras BT, Kang PB, Morrison L, Krzesniak-Swinarska M, Mah JK, Mongini TE, Ricci F, von der Hagen M, Finkel RS, O'Reardon K, Wicklund M, Kumar A, McDonald CM, Han JJ, Joyce N, Henricson EK, Schara-Schmidt U, Gangfuss A, Wilichowski E, Barohn RJ, Statland JM, Campbell C, Vita G, Vita GL, Howard JF Jr, Hughes I, McMillan HJ, Pegoraro E, Bello L, Burnette WB, Thangarajh M, Chang T. Effect of Different Corticosteroid Dosing Regimens on Clinical Outcomes in Boys With Duchenne Muscular Dystrophy: A Randomized Clinical Trial. JAMA Apr 19;327(15):1456-1468, 2022.

Nair KS, Lott DJ, Forbes SC, Barnard AM, Willcocks RJ, Senesac CR, Daniels MJ, Harrington AT, Tennekoon GI, Zilke K, Finanger EL, Finkel RS, Rooney WD, Walter GA, Vandenborne K. Step Activity Monitoring in Boys with Duchenne Muscular Dystrophy and its Correlation with Magnetic Resonance Measures and Functional Performance. J Neuromuscul Dis Apr 18, 2022.

Finkel RS, Benatar M. Pre-symptomatic spinal muscular atrophy: A proposed nosology. Brain Apr 16, 2022.

Darras BT, Guye S, Hoffart J, Schneider S, Gravestock I, Gorni K, Fuerst-Recktenwald S, Scalco RS, Finkel RS, De Vivo DC. Distribution of weight, stature and growth status in children and adolescents with spinal muscular atrophy: An observational retrospective study in the United States. Muscle Nerve Apr 6, 2022.

Benatar M, Wuu J, McHutchison C, Postuma RB, Boeve BF, Petersen R, Ross CA, Rosen H, Arias JJ, Fradette S, McDermott MP, Shefner J, Stanislaw C, Abrahams S, Cosentino S, Andersen PM, Finkel RS, Granit V, Grignon AL, Rohrer JD, McMillan CT, Grossman M, Al-Chalabi A, Turner MR. Preventing amyotrophic lateral sclerosis: Insights from pre-symptomatic neurodegenerative diseases. Brain 145(1):27-44, 2022.

McDonald CM, Marbán E, Hendrix S, Hogan N, Ruckdeschel Smith R, Eagle M, Finkel RS, Tian C, Janas J, Harmelink MM, Varadhachary AS, Taylor MD, Hor KN, Mayer OH, Henricson EK, Furlong P, Ascheim DD, Rogy S, Williams P, Marbán L. Repeated intravenous cardiosphere-derived cell therapy in late-stage Duchenne muscular dystrophy (HOPE-2): A multicentre, randomised, double-blind, placebo-controlled, phase 2 trial. Lancet 399(10329):1049-1058, 2022.

Finkel RS, Lorson CL. Friend or foe(tal): Challenges in development of a large animal model for pre-clinical fetal gene therapy. Gene Ther Mar 8, 2022.

Kumble S, Levy AM, Punetha J, Gao H, Mew NA, Anyane-Yeboa K, Benke PJ, Berger SM, Bjerglund L, Campos-Xavier B, Ciliberto M, Cohen JS, Comi AM, Curry C, Damaj L, Denommé-Pichon AS, Emrick L, Faivre L, Fasano MB, Fiévet A, Finkel RS, García-Miñaúr S, Gerard A, Gomez-Puertas P, Guillen Sacoto MJ, Hoffman TL, Howard L, Iglesias AD, Izumi K, Larson A, Leiber A, Lozano R, Marcos-Alcalde I, Mintz CS, Mullegama SV, Møller RS, Odent S, Oppermann H, Ostergaard E, Pacio-Míguez M, Palomares-Bralo M, Parikh S, Paulson AM, Platzer K, Posey JE, Potocki L, Revah-Politi A, Rio M, Ritter AL, Robinson S, Rosenfeld JA, Santos-Simarro F, Sousa SB, Network UD, Wéber M, Xie Y, Chung WK, Brown NJ, Tümer Z. The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder. Hum Mutat 43(2):266-282, 2022.

Day JW, Mendell JR, Mercuri E, Finkel RS, Strauss KA, Kleyn A, Tauscher-Wisniewski S, Tukov FF, Reyna SP, Chand DH. Correction to: Clinical trial and postmarketing safety of onasemnogene abeparvovec therapy. Drug Saf 45(2):191-192, 2022.

MacCannell D, Berger Z, Kirschner J, Mercuri E, Farrar MA, Iannaccone ST, Kuntz NL, Finkel RS, Valente M, Muntoni F. Restoration of nusinersen levels following treatment interruption in people with spinal muscular atrophy: Simulations based on a population pharmacokinetic model. CNS Drugs 36(2):181-190, 2022.

Show More

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 RSPopulation 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: May 2022

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