Below is a selection of research publications from the Healey Center for ALS at Massachusetts General Hospital. Learn more about our research programs.

Human sensorimotor organoids derived from healthy and amyotrophic lateral sclerosis stem cells form neuromuscular junctions.
Pereira JD, DuBreuil DM, Devlin AC, Held A, Sapir Y, Berezovski E, Hawrot J, Dorfman K, Chander V, Wainger BJ. Nat Commun. 2021 Aug 6;12(1):4744. doi: 10.1038/s41467-021-24776-4.

Radicava/Edaravone Findings in Biomarkers From Amyotrophic Lateral Sclerosis (REFINE-ALS): Protocol and Study Design.
Berry J, Brooks B, Genge A, Heiman-Patterson T, Appel S, Benatar M, Bowser R, Cudkowicz M, Gooch C, Shefner J, Westra J, Agnese W, Merrill C, Nelson S, Apple S. Neurol Clin Pract. 2021 Aug;11(4):e472-e479. doi: 10.1212/CPJ.0000000000000968.

Genome-encoded cytoplasmic double-stranded RNAs, found in C9ORF72 ALS-FTD brain, propagate neuronal loss.
Rodriguez S, Sahin A, Schrank BR, Al-Lawati H, Costantino I, Benz E, Fard D, Albers AD, Cao L, Gomez AC, Evans K, Ratti E, Cudkowicz M, Frosch MP, Talkowski M, Sorger PK, Hyman BT, Albers MW. Sci Transl Med. 2021 Jul 7;13(601):eaaz4699. doi: 10.1126/scitranslmed.aaz4699.

A high-content platform for physiological profiling and unbiased classification of individual neurons.
DuBreuil DM, Chiang BM, Zhu K, Lai X, Flynn P, Sapir Y, Wainger BJ. Cell Rep Methods. 2021 May 24;1(1):100004. doi: 10.1016/j.crmeth.2021.100004.

Ibudilast (MN-166) In Amyotrophic Lateral Sclerosis - an Open Label, Safety and Pharmacodynamic Trial
Babu S, Hightower BG, Chan J,  Zürcher NR,  Kivisäkk P, Tseng CJ, Sanders DL, Robichaud A,  Banno H, Evora A,  Ashokkumar A,  Pothier L,  Paganoni S,  Chew S,  Dojillo J,  Matsuda K,  Gudesblatt M, Berry JD,  Cudkowicz ME,  Hooker JM, Atassi N. NeuroImage: Clinical. 2021 April 15. doi: 10.1016/j.nicl.2021.102672

Ultra-high field (7T) functional magnetic resonance imaging in amyotrophic lateral sclerosis: a pilot study.
Barry RL, Babu S, Anteraper SA, Triantafyllou C, Keil B, Rowe OE, Rangaprakash D, Paganoni S, Lawson R, Dheel C, Cernasov PM, Rosen BR, Ratai EM, Atassi N. Neuroimage Clin. 2021 Mar 30;30:102648. doi: 10.1016/j.nicl.2021.102648.

Patient reported outcomes in ALS: characteristics of the self-entry ALS Functional Rating Scale-revised and the Activities-specific Balance Confidence Scale.
Chew S, Burke KM, Collins E, Church R, Paganoni S, Nicholson K, Babu S, Scalia JB, De Marchi F, Ellrodt AL, Moura LMVR, Chan J, Berry JD. Amyotroph Lateral Scler Frontotemporal Degener. 2021 Mar 26:1-11. doi: 10.1080/21678421.2021.1900259.

Regional prefrontal cortical atrophy predicts specific cognitive-behavioral symptoms in ALS-FTD.
Ratti E, Domoto-Reilly K, Caso C, Murphy A, Brickhouse M, Hochberg D, Makris N, Cudkowicz ME, Dickerson BC. Brain Imaging Behav. 2021 Feb 15. doi: 10.1007/s11682-021-00456-1.

Comparison of Two Clinical Upper Motor Neuron Burden Rating Scales in ALS Using Quantitative Brain Imaging.
Makary MM, Weerasekara A, Rodham H, Hightower BG, Tseng CJ, Chan J, Chew S, Paganoni S, Ratai EM, Zürcher NR, Hooker JM, Atassi N, Babu S. ACS Chem Neurosci. 2021 Feb 12. doi: 10.1021/acschemneuro.0c00772.

Effects of Mexiletine on Hyperexcitability in Sporadic ALS: Preliminary Findings from A Small Phase II Randomized Controlled Trial.
Weiss MD, Macklin EA, McIlduff CE, Vucic S, Wainger BJ, Kiernan MC, Goutman SA, Goyal NA, Rutkove SB, Ladha SS, Amy Chen IH, Harms MB, Brannagan TH, Lacomis D, Zivkovic S, Ma M, Wang LH, Simmons Z, Rivner MH, Shefner JM, Cudkowicz ME, Atassi N; Mexiletine-2 ALS Study Group. Muscle Nerve. 2020 Dec 19. doi: 10.1002/mus.27146.

Sodium Phenylbutyrate-Taurursodiol for ALS. Reply.
Paganoni S, Cudkowicz ME. N Engl J Med. 2020 Dec 3;383(23):2294. doi: 10.1056/NEJMc2030710.

Effect of Ezogabine on Cortical and Spinal Motor Neuron Excitability in Amyotrophic Lateral Sclerosis: A Randomized Clinical Trial.
Wainger BJ, Macklin EA, Vucic S, McIlduff CE, Paganoni S, Maragakis NJ, Bedlack R, Goyal NA, Rutkove SB, Lange DJ, Rivner MH, Goutman SA, Ladha SS, Mauricio EA, Baloh RH, Simmons Z, Pothier L, Kassis SB, La T, Hall M, Evora A, Klements D, Hurtado A, Pereira JD, Koh J, Celnik PA, Chaudhry V, Gable K, Juel VC, Phielipp N, Marei A, Rosenquist P, Meehan S, Oskarsson B, Lewis RA, Kaur D, Kiskinis E, Woolf CJ, Eggan K, Weiss MD, Berry JD, David WS, Davila-Perez P, Camprodon JA, Pascual-Leone A, Kiernan MC, Shefner JM, Atassi N, Cudkowicz ME. JAMA Neurol. 2020 Nov 23. doi: 10.1001/jamaneurol.2020.4300.

The human gut microbiota in people with amyotrophic lateral sclerosis.
Nicholson K, Bjornevik K, Abu-Ali G, Chan J, Cortese M, Dedi B, Jeon M, Xavier R, Huttenhower C, Ascherio A, Berry JD. Amyotroph Lateral Scler Frontotemporal Degener. 2020 Nov 2:1-9. doi: 10.1080/21678421.2020.1828475.

Smartphone data during the COVID-19 pandemic can quantify behavioral changes in people with ALS.
Beukenhorst AL, Collins E, Burke KM, Rahman SM, Clapp M, Konanki SC, Paganoni S, Miller TM, Chan J, Onnela JP, Berry JD. Muscle Nerve. 2020 Oct 29. doi: 10.1002/mus.27110.

Long-Term Survival of Participants in the CENTAUR Trial of Sodium Phenylbutyrate-Taurursodiol in ALS.
Paganoni S, Hendrix S, Dickson SP, Knowlton N, Macklin EA, Berry JD, Elliott MA, Maiser S, Karam C, Caress JB, Owegi MA, Quick A, Wymer J, Goutman SA, Heitzman D, Heiman-Patterson TD, Jackson CE, Quinn C, Rothstein JD, Kasarskis EJ, Katz J, Jenkins L, Ladha S, Miller TM, Scelsa SN, Vu TH, Fournier CN, Glass JD, Johnson KM, Swenson A, Goyal NA, Pattee GL, Andres PL, Babu S, Chase M, Dagostino D, Hall M, Kittle G, Eydinov M, McGovern M, Ostrow J, Pothier L, Randall R, Shefner JM, Sherman AV, St Pierre ME, Tustison E, Vigneswaran P, Walker J, Yu H, Chan J, Wittes J, Yu ZF, Cohen J, Klee J, Leslie K, Tanzi RE, Gilbert W, Yeramian PD, Schoenfeld D, Cudkowicz ME. Muscle Nerve. 2020 Oct 16. doi: 10.1002/mus.27091.

The NEALS primary lateral sclerosis registry.
Paganoni S, De Marchi F, Chan J, Thrower SK, Staff NP, Datta N, Kisanuki YY, Drory V, Fournier C, Pioro EP, Goutman SA, Atassi N; NEALS PLS Registry Study Group. Amyotroph Lateral Scler Frontotemporal Degener. 2020 Sep 11:1-8. doi: 10.1080/21678421.2020.1804591.

Engaging ALS patients and caregivers (the ALS research ambassadors) to help design the REFINE-ALS biomarker study.
Berry JD, Bedlack R, Mathews D, Agnese W, Apple S. Amyotroph Lateral Scler Frontotemporal Degener. 2020 Aug 24:1-4. doi: 10.1080/21678421.2020.1804939.

Exploring the use of educational materials for increasing participation in a stretching program: a quality improvement project in people with motor neuron disease.
Burke K, De Marchi F, Ellrodt AS, Doyle M, Koul M, Comeau O, Adelson E, Walter R, Kusy M, Amaya F, Anderson C, Honda J, Chan J, Berry J, Paganoni S. Eur J Phys Rehabil Med. 2020 Aug 3. doi: 10.23736/S1973-9087.20.06245-0.

Amyotrophic Lateral Sclerosis: Fuel for the Corticofugal Feud.
Wainger BJ, Brown RH Jr. Ann Neurol. 2020 Aug 2. doi: 10.1002/ana.25861.

Longitudinal biomarkers in amyotrophic lateral sclerosis.
Huang F, Zhu Y, Hsiao-Nakamoto J, Tang X, Dugas JC, Moscovitch-Lopatin M, Glass JD, Brown RH Jr, Ladha SS, Lacomis D, Harris JM, Scearce-Levie K, Ho C, Bowser R, Berry JD. Ann Clin Transl Neurol. 2020 Jun 9. doi: 10.1002/acn3.51078.

Lipocalin-2 is increased in amyotrophic lateral sclerosis.
Petrozziello T, Mills AN, Farhan SMK, Mueller KA, Granucci EJ, Glajch KE, Chan J, Chew S, Berry JD, Sadri-Vakili G. Muscle Nerve. 2020 May 5. doi: 10.1002/mus.26911.

Understanding the needs of people with ALS: a national survey of patients and caregivers.
Brizzi KT, Bridges JFP, Yersak J, Balas C, Thakur N, Galvin M, Hardiman O, Heatwole C, Ravits J, Simmons Z, Bruijn L, Chan J, Bedlack R, Berry JD. Amyotroph Lateral Scler Frontotemporal Degener. 2020 May 12:1-9. doi: 10.1080/21678421.2020.1760889.

Upper motor neuron burden measurement in motor neuron diseases: Does one scale fit all?
Babu S. Muscle Nerve. 2020 Apr;61(4):431-432. doi: 10.1002/mus.26836.

Moving towards multicenter therapeutic trials in ALS: feasibility of data pooling using different TSPO positron emission tomography (PET) radioligands.
Van Weehaeghe D, Babu S, De Vocht J, Zurcher NR, Chew S, Tseng CJ, Loggia M, Koole M, Rezaei A, Schramm G, Van Damme P, Hooker JM, Van Laere K, Atassi N. J Nucl Med. 2020 Mar 13. pii: jnumed.119.241059. doi: 10.2967/jnumed.119.241059.

Patient reported outcome measures (PROMs) in amyotrophic lateral sclerosis.
De Marchi F, Berry JD, Chan J, Caldwell S, Ellrodt A, Scalia J, Burke K, Fang T, Clark Sisodia R, Schwamm LH, Moura LMVR, Paganoni S. J Neurol. 2020 Mar 3. doi: 10.1007/s00415-020-09774-8.

Upper Motor Neuron Burden Measurement in motor neuron diseases- Does one scale fit all?
Babu, S. Muscle Nerve. 2020 Feb 18. doi: 10.1002/mus.26836. [Epub ahead of print]

Addressing Heterogeneity in ALS Clinical Trials.
Goyal NA, Berry JD, Windebank A, Nathan P, Maragakis NJ, van den Berg LH, Genge A, Miller R, Baloh RH, Kern R, Gothelf Y, Lebovits C, Cudkowicz M. Muscle & Nerve. 2020 Jan 3. doi: 10.1002/mus.26801.

Cromolyn sodium delays disease onset and is neuroprotective in the SOD1G93A Mouse Model of amyotrophic lateral sclerosis.
Granucci EJ, Griciuc A, Mueller KA, Mills AN, Le H, Dios AM, McGinty D, Pereira J, Elmaleh D, Berry JD, Paganoni S, Cudkowicz ME, Tanzi RE, Sadri-Vakili G. Sci Rep. 2019 Nov 27;9(1):17728. doi: 10.1038/s41598-019-53982-w.

NurOwn, phase 2, randomized, clinical trial in patients with ALS: Safety, clinical, and biomarker results.
Berry JD, Cudkowicz ME, Windebank AJ, Staff NP, Owegi M, Nicholson K, McKenna-Yasek D, Levy YS, Abramov N, Kaspi H, Mehra M, Aricha R, Gothelf Y, Brown RH. Neurology
. 2019 Nov 18. pii: 10.1212/WNL.0000000000008620. doi: 10.1212/WNL.0000000000008620.

Selection design phase II trial of high dosages of tamoxifen and creatine in amyotrophic lateral sclerosis.
Babu S, Macklin EA, Jackson KE, Simpson E, Mahoney K, Yu H, Walker J, Simmons Z, David WS, Barkhaus PE, Simionescu L, Dimachkie MM, Pestronk A, Salameh JS, Weiss MD, Brooks BR, Schoenfeld D, Shefner J, Aggarwal S, Cudkowicz ME, Atassi N. Amyotroph Lateral Scler Frontotemporal Degener. 2019 Oct 14:1-9. doi: 10.1080/21678421.2019.1672750.

Adjusted cost analysis of video televisits for the care of people with amyotrophic lateral sclerosis.
Paganoni S, van de Rijn M, Drake K, Burke K, Doyle M, Ellrodt AS, Nicholson K, Atassi N, de Marchi F, Babu S, Estrada J, Schwamm LH, Berry JD. Muscle Nerve. 2019 Aug;60(2):147-154. doi: 10.1002/mus.26606. Epub 2019 Jun 27.

Integration of a palliative care specialist in an amyotrophic lateral sclerosis clinic: Observations from one center.
Brizzi K, Paganoni S, Zehm A, De Marchi F, Berry JD. Muscle & Nerve. 2019 Aug;60(2):137-140. doi: 10.1002/mus.26607.

Pharmacological Profiling of Purified Human Stem Cell-Derived and Primary Mouse Motor Neurons.
Moakley D, Koh J, Pereira JD, DuBreuil DM, Devlin AC, Berezovski E, Zhu K, Wainger BJ. Sci Rep. 2019 Jul 25;9(1):10835. doi: 10.1038/s41598-019-47203-7.

Design and analysis of a clinical trial using previous trials as historical control.
Schoenfeld DA, Finkelstein DM, Macklin E, Zach N, Ennist DL, Taylor AA, Atassi N. Pooled Resource Open-Access ALS Clinical Trials Consortium. Clin Trials. 2019 Jul 1:1740774519858914. doi: 10.1177/1740774519858914.

ALS/SURV: a modification of the CAFS statistic.
Goutman SA, Brown MB, Cudkowicz M, Atassi N, Feldman EL. Amyotroph Lateral Scler Frontotemporal Degener. 2019 Jul 23:1-8. doi: 10.1080/21678421.2019.1643375.

All-Cause and Cause-Specific Mortality Among Major League Baseball Players.
Nguyen VT, Zafonte RD, Kponee-Shovein KZ, Paganoni S, Weisskopf MG. JAMA Intern Med. 2019 Jul 22. doi: 10.1001/jamainternmed.2019.1218.

Class I and II histone deacetylase expression is not altered in human amyotrophic lateral sclerosis: Neuropathological and positron emission tomography molecular neuroimaging evidence.
Dios AM, Babu S, Granucci EJ, Mueller KA, Mills AN, Alshikho MJ, Zürcher NR,Cernasov P, Gilbert TM, Glass JD, Berry JD, Atassi N, Hooker JM, Sadri-Vakili G.  Muscle & Nerve. 2019 Jun 26. doi: 10.1002/mus.26620.

When a negative trial in ALS has a positive effect on research.
Atassi N. Lancet Neurol. 2018 Aug;17(8):653-655. doi: 10.1016/S1474-4422(18)30210-2. Epub 2018 Jun 19.

Nutritional counseling with or without mobile health technology: a randomized open-label standard-of-care-controlled trial in ALS.
Wills AM, Garry J, Hubbard J, Mezoian T, Breen CT, Ortiz-Miller C, Nalipinski P, Sullivan S, Berry JD, Cudkowicz M, Paganoni S, Chan J, Macklin EA. BMC Neurol. 2019 May 29;19(1):104. doi: 10.1186/s12883-019-1330-6.

VITALITY-ALS STUDY GROUP. A phase III trial of tirasemtiv as a potential treatment for amyotrophic lateral sclerosis.
Shefner JM, Cudkowicz ME, Hardiman O, Cockroft BM, Lee JH, Malik FI, Meng L, Rudnicki SA, Wolff AA, Andrews JA. Amyotroph Lateral Scler Frontotemporal Degener. 2019 May 13:1-11. doi:10.1080/21678421.2019.1612922. [Epub ahead of print] Erratum in: Amyotroph Lateral Scler Frontotemporal Degener. 2019 Jul 14;:1.

Provisional best practices guidelines for the evaluation of bulbar dysfunction in amyotrophic lateral sclerosis.
Contributing Members of the NEALS Bulbar Subcommittee.  Pattee GL, Plowman EK, Focht Garand KL, Costello J, Brooks BR, Berry JD, Smith RA, Atassi N, Chapin JL, Yunusova Y, McIlduff CE, Young E, Macklin EA, Locatelli ER, Silani V, Heitzman D, Wymer J, Goutman SA, Gelinas DF, Perry B, Nalipinski P, Stipancic K, O'Brien M, Sullivan SL, Pioro EP, Gargiulo G, Green JR. Muscle & Nerve. 2019 May;59(5):531-536. doi: 10.1002/mus.26408. Epub 2019 Jan 22.

Design and results of a smartphone-based digital phenotyping study to quantify ALS progression.
Berry JD, Paganoni S, Carlson K, Burke K, Weber H, Staples P, Salinas J, Chan J, Green JR, Connaghan K, Barback J, Onnela JP. Ann Clin Transl Neurol. 2019 Apr 3;6(5):873-881. doi: 10.1002/acn3.770. eCollection 2019 May.

Disruption of RNA Metabolism in Neurological Diseases and Emerging Therapeutic Interventions.
Nussbacher JK, Tabet R, Yeo GW, Lagier-Tourenne C. Neuron. 2019 Apr 17;102(2):294-320. doi: 10.1016/j.neuron.2019.03.014. Review.

Positron Emission Tomography Molecular Imaging Biomarkers for Amyotrophic Lateral Sclerosis.
Chew S, Atassi N.   Front Neurol. 2019 Mar 1;10:135. doi: 10.3389/fneur.2019.00135. eCollection 2019. Review.

Lunasin does not slow ALS progression: results of an open-label, single-center, hybrid-virtual 12-month trial.
Bedlack RS, Wicks P, Vaughan T, Opie A, Blum R, Dios A, Sadri-Vakili G. Amyotroph Lateral Scler Frontotemporal Degener. 2019 Jan 21:1-9. doi: 10.1080/21678421.2018.1556698. [Epub ahead of print]

Heterogeneity, urgency, generalizability, and enrollment: The HUGE balance in ALS trials.
Karam C, Berry JD.  Neurology. 2019 Jan 9. pii: 10.1212/WNL.0000000000006837. doi: 10.1212/WNL.0000000000006837. [Epub ahead of print]

A pilot trial of RNS60 in amyotrophic lateral sclerosis.
Paganoni S, Alshikho MJ, Luppino S, Chan J, Pothier L, Schoenfeld D, Andres PL, Babu S, Zürcher NR, Loggia ML, Barry RL, Luotti S, Nardo G, Trolese MC, Pantalone S, Bendotti C, Bonetto V, De Marchi F, Rosen B, Hooker J, Cudkowicz M, Atassi N. Muscle & Nerve. 2019 Mar;59(3):303-308. doi: 10.1002/mus.26385. Epub 2018 Dec 26.

Telemedicine to innovate amyotrophic lateral sclerosis multidisciplinary care: The time has come.
Paganoni S, Simmons Z. Muscle & Nerve. 2019 Jan;59(1):3-5. doi: 10.1002/mus.26311. Epub 2018 Dec 18.

Taking on the Elephant in the Tissue Culture Room: iPSC Modeling for Sporadic ALS.
Wainger BJ, Lagier-Tourenne C. Cell Stem Cell. 2018 Oct 4;23(4):466-467. doi: 10.1016/j.stem.2018.09.015.

Animal models of neurodegenerative diseases.
Dawson TM, Golde TE, Lagier-Tourenne C. Nat Neurosci. 2018 Oct;21(10):1370-1379. doi: 10.1038/s41593-018-0236-8. Epub 2018 Sep 24. Review.

Integrated imaging of [11C]-PBR28 PET, MR diffusion and magnetic resonance spectroscopy 1H-MRS in amyotrophic lateral sclerosis.
Ratai EM, Alshikho MJ, Zürcher NR, Loggia ML, Cebulla CL, Cernasov P, Reynolds B, Fish J, Seth R, Babu S, Paganoni S, Hooker JM, Atassi N. Neuroimage Clin. 2018 Aug 9;20:357-364. doi: 10.1016/j.nicl.2018.08.007. eCollection 2018.

Integrated magnetic resonance imaging and [11 C]-PBR28 positron emission tomographic imaging in amyotrophic lateral sclerosis.
Alshikho MJ, Zürcher NR, Loggia ML, Cernasov P, Reynolds B, Pijanowski O, Chonde DB, Izquierdo Garcia D, Mainero C, Catana C, Chan J, Babu S, Paganoni S, Hooker JM, Atassi N.  Ann Neurol. 2018 Jun;83(6):1186-1197. doi: 10.1002/ana.25251.

Nonmotor manifestations in ALS patients with tracheostomy and invasive ventilation.
Atassi N.  Muscle & Nerve. 2018 May;57(5):699-700. doi: 10.1002/mus.26068. Epub 2018 Feb 19. No abstract available.

Exploring the Use of Educational Material About Shoulder Dysfunction: A Quality Improvement Project in People With Amyotrophic Lateral Sclerosis.
Burke K, Ellrodt AS, Levine J, Adams T, Allis R, Macmurdie I, Paganoni S.Am J Phys Med Rehabil. 2018 May;97(5):379-382. doi: 10.1097/PHM.0000000000000885.

Urate levels predict survival in amyotrophic lateral sclerosis: Analysis of the expanded Pooled Resource Open-Access ALS clinical trials database.
Paganoni S, Nicholson K, Chan J, Shui A, Schoenfeld D, Sherman A, Berry J, Cudkowicz M, Atassi N. Pooled Resource Open-Access ALS Clinical Trials Consortium. Muscle & Nerve. 2018 Mar;57(3):430-434. doi: 10.1002/mus.25950. Epub 2017 Sep 21.