Research Studies

Study Title

Conceptual papers, workshop reports, clinical & research practice guidelines, editorials, reviews

Enrollment Status

Principal Investigators

Michael Benatar, MD, PhD and Joanne Wuu, ScM

Study Type

Other

Goals

In addition to the pioneering studies that we lead, some of our most important work is conceptual – reflecting our creative and innovative thinking, willingness to challenge dogma, and longstanding efforts to break down traditional silos in ALS and related research.

Enrolling

Eligibility

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Study Involvement

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Contact

Primary Funding Source

Related Publications

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Benatar M, Staffaroni AM, Wuu J, McDermott MP, Quintana M, Swidler J, Andersen G, Huey ED, Turner MR, Macklin EA, Berry JD, McMillan CT, Gendron T, Onyike C, Rosen H, Heuer HW, Grignon AL, Dave KD, Balas C, Gleixner A, Satlin A, Dunn B, Dacks P, Boxer AL. Design considerations for C9orf72 disease prevention trials. Brain. 2025 Nov 4;148(11):3844-3855. Epub 2025 Aug 5. [PubMed link: 40794569]

https://pubmed.ncbi.nlm.nih.gov/40794569

Benatar M, McDermott MP. Examining the evidence for IL-2 in amyotrophic lateral sclerosis. Lancet. 2025 May 24;405(10492):1793-1795. [PubMed link: 40354800]

https://pubmed.ncbi.nlm.nih.gov/40354800

Benatar M, McDermott C, Turner MR, van Eijk RPA. Reply: Overstating harms can have consequences. Brain. 2025 Jun 3;148(6):e54. Epub 2025 Feb 5. [PubMed link: 39908190]

https://pubmed.ncbi.nlm.nih.gov/39908190

Benatar M, Robertson J, Andersen PM. Amyotrophic lateral sclerosis caused by SOD1 variants: from genetic discovery to disease prevention. Lancet Neurol. 2025 Jan;24(1):77-86. [PubMed link: 39706636]

https://pubmed.ncbi.nlm.nih.gov/39706636

Andersen PM, Benatar M. Patrikios syndrome and SOD1 ALS. Lancet Neurol. 2025 Jan;24(1):27.  [PubMed link: 39706627]

https://pubmed.ncbi.nlm.nih.gov/39706627

Benatar M, McDermott C, Turner MR, van Eijk RPA. Rethinking phase 2 trials in amyotrophic lateral sclerosis. Brain. 2025 Apr 3;148(4):1106-1111. Epub 2024 Dec 6. [PubMed link: 39657109]

https://pubmed.ncbi.nlm.nih.gov/39657109

Benatar M, Heiman-Patterson TD, Cooper-Knock J, Brickman D, Casaletto KB, Goutman SA, Vinceti M, Dratch L, Arias JJ, Swidler J, Turner MR, Shefner J, Westeneng HJ, van den Berg LH, Al-Chalabi A; Attendees of the Workshop on Guidance for Clinical Care of People Living with a Pathogenic Variant At-Risk for ALS and FTD. Guidance for clinical management of pathogenic variant carriers at elevated genetic risk for ALS/FTD. J Neurol Neurosurg Psychiatry. 2025 Jan 31;96(3):e334339. Epub 2024 Nov 21. [PubMed link: 39572211]

https://pubmed.ncbi.nlm.nih.gov/39572211

Bampton A, McHutchison C, Talbot K, Benatar M, Thompson AG, Turner MR. The basis of cognitive and behavioral dysfunction in amyotrophic lateral sclerosis. Brain Behav. 2024 Nov;14(11):e70115. Epub 2024 Nov 5. [PubMed link: 39501538]

https://pubmed.ncbi.nlm.nih.gov/39501538

Benatar M, Wuu J, Huey ED, McMillan CT, Petersen RC, Postuma R, McHutchison C, Dratch L, Arias JJ, Crawley A, Houlden H, McDermott MP, Cai X, Thakur N, Boxer A, Rosen H, Boeve BF, Dacks P, Cosentino S, Abrahams S, Shneider N, Lingor P, Shefner J, Andersen PM, Al-Chalabi A, Turner MR; Attendees of the Second International Pre-Symptomatic ALS Workshop. The Miami Framework for ALS and related neurodegenerative disorders: an integrated view of phenotype and biology. Neurol. 2024 Jun;20(6):364-376. Epub 2024 May 20.

https://pubmed.ncbi.nlm.nih.gov/38769202

Benatar M, Ostrow LW, Lewcock JW, Bennett F, Shefner J, Bowser R, Larkin P, Bruijn L, Wuu J. Biomarker qualification for neurofilament light chain in ALS: theory and practice. Ann Neurol. 2024 Feb;95(2):211-216. Epub 2023 Dec 28.

https://pubmed.ncbi.nlm.nih.gov/38110839

Sattler R, Traynor BJ, Robertson J, Van Den Bosch L, Barmada SJ, Svendsen CN, Disney MD, Gendron TF, Wong PC, Turner MR, Boxer A, Babu S, Benatar M, Kurnellas M, Rohrer JD, Donnelly CJ, Bustos LM, Van Keuren-Jensen K, Dacks PA, Sabbagh MN; Attendees of the inaugural C9ORF72 FTD/ALS Summit. Roadmap for C9ORF72 in frontotemporal dementia and amyotrophic lateral sclerosis: Report on the C9ORF72 FTD/ALS Summit. Neurol Ther. 2023 Dec;12(6):1821-1843. Epub 2023 Oct 17.

https://pubmed.ncbi.nlm.nih.gov/37847372

Benatar M, Turner MR, Wuu J. Pre-symptomatic amyotrophic lateral sclerosis: from characterization to prevention. Curr Opin Neurol. 2023 Aug 1;36(4):360-364. Epub 2023 May 31.

https://pubmed.ncbi.nlm.nih.gov/37382103

Benatar M, Al-Chalabi A, Crawley A, Wuu J. Reply: A new diagnostic entity must enable earlier treatment in gene carriers. Brain. 2023 Oct 3;146(10):e80-e82. Epub 2023 May 15.

https://pubmed.ncbi.nlm.nih.gov/37186590

Benatar M, Goutman SA, Staats KA, Feldman EL, Weisskopf M, Talbott E, Dave KD, Thakur NM, Al-Chalabi A. A roadmap to ALS prevention: strategies and priorities. J Neurol Neurosurg Psychiatry. 2023 May;94(5):399-402.

https://pubmed.ncbi.nlm.nih.gov/36690429

Finkel RS, Benatar M. Pre-symptomatic spinal muscular atrophy: a proposed nosology. Brain. 2022 Apr 16:awac125. Online ahead of print.

https://pubmed.ncbi.nlm.nih.gov/35429273

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; attendees of the First International Pre-Symptomatic ALS Workshop. Preventing amyotrophic lateral sclerosis: insights from pre-symptomatic neurodegenerative diseases. Brain. 2021 Oct 22. Online ahead of print.

https://pubmed.ncbi.nlm.nih.gov/34677606

Mitsumoto H, Turner MR; all Delegates of the PLS Conference, Ajroud-Driss S, Andres P, Andrews J, Gomez EA, Atehortua JMS, Babu S, Barohn R, Bede P, Benatar M, Chew S, Conwit R, Corcia P, Cudkowicz M, Davis F, Carvalho M, Drory V, Elman L, Factor-Litvak P, Fernandes JAM, Ferrey D, Finegan E, Fink J, Floeter MK, Fournier C, Genge A, Govindarajan R, Granit V, Haase G, Hardiman O, Harms M, Hayat G, Heiman-Patterson T, Hill B, Hübers A, Huey E, Jawdat O, Kano O, Kau K, Kiernan M, Kisanuki Y, Kurent J, Kwan J, Lange D, Ludolph A, Mackenzie I, Manfredi G, Marren D, Morita M, Murphy J, Nations S, Oskarsson B, Paganoni S, Pellerin D, Ravits J, Rezania K, Rouleau G, Scelsa S, Siddique T, Siddique N, Silani V, Simmons Z, Statland J, Traynor B, Blitterswijk MV, Berg LVD, Walk D, Warden D, Wymer J. Preface: promoting research in PLS: current knowledge and future challenges. Amyotroph Lateral Scler Frontotemporal Degener. 2020 Nov;21(sup1):1-2.

https://pubmed.ncbi.nlm.nih.gov/33602018

Benatar M, McDermott MP. Incremental Gains in the Battle against ALS. N Engl J Med. 2020 Sep 3;383(10):979-980.

https://pubmed.ncbi.nlm.nih.gov/32877589

Turner MR, Barohn RJ, Corcia P, Fink JK, Harms MB, Kiernan MC, Ravits J, Silani V, Simmons Z, Statland J, van den Berg LH; Delegates of the 2nd International PLS Conference, Mitsumoto H. Primary lateral sclerosis: consensus diagnostic criteria. J Neurol Neurosurg Psychiatry. 2020 Apr;91(4):373-377. Epub 2020 Feb 6.

https://pubmed.ncbi.nlm.nih.gov/32029539

Benatar M, Turner MR, Wuu J. Defining pre-symptomatic amyotrophic lateral sclerosis. Amyotroph Lateral Scler Frontotemporal Degener. 2019 Aug;20(5-6):303-309. Epub 2019 Mar 20.

https://pubmed.ncbi.nlm.nih.gov/30892087

van den Berg LH, Sorenson E, Gronseth G, Macklin EA, Andrews J, Baloh RH, Benatar M, Berry JD, Chio A, Corcia P, Genge A, Gubitz AK, Lomen-Hoerth C, McDermott CJ, Pioro EP, Rosenfeld J, Silani V, Turner MR, Weber M, Brooks BR, Miller RG, Mitsumoto H; Airlie House ALS Clinical Trials Guidelines Group. Revised Airlie House consensus guidelines for design and implementation of ALS clinical trials. Neurology. 2019 Apr 2;92(14):e1610-e1623. Epub 2019 Mar 8.

https://pubmed.ncbi.nlm.nih.gov/30850440

Strong MJ, Abrahams S, Goldstein LH, Woolley S, Mclaughlin P, Snowden J, Mioshi E, Roberts-South A, Benatar M, HortobáGyi T, Rosenfeld J, Silani V, Ince PG, Turner MR. Amyotrophic lateral sclerosis - frontotemporal spectrum disorder (ALS-FTSD): Revised diagnostic criteria. Amyotroph Lateral Scler Frontotemporal Degener. 2017 May;18(3-4):153-174. Epub 2017 Jan 5.

https://pubmed.ncbi.nlm.nih.gov/28054827

Benatar M, Stanislaw C, Reyes E, Hussain S, Cooley A, Fernandez MC, Dauphin DD, Michon SC, Andersen PM, Wuu J. Presymptomatic ALS genetic counseling and testing: Experience and recommendations. Neurology. 2016 Jun 14;86(24):2295-302. Epub 2016 May 18.

https://pubmed.ncbi.nlm.nih.gov/27194384

Benatar M, Boylan K, Jeromin A, Rutkove SB, Berry J, Atassi N, Bruijn L. ALS biomarkers for therapy development: State of the field and future directions. Muscle Nerve. 2016 Feb;53(2):169-82. Epub 2015 Dec 29.

https://pubmed.ncbi.nlm.nih.gov/26574709

Verstraete E, Turner MR, Grosskreutz J, Filippi M, Benatar M; attendees of the 4th NiSALS meeting. Mind the gap: the mismatch between clinical and imaging metrics in ALS. Amyotroph Lateral Scler Frontotemporal Degener. 2015;16(7-8):524-9. Epub 2015 Sep 24.

https://pubmed.ncbi.nlm.nih.gov/26402254

Filippi M, Agosta F, Grosskreutz J, Benatar M, Kassubek J, Verstraete E, Turner MR; Neuroimaging Society in ALS (NiSALS). Progress towards a neuroimaging biomarker for amyotrophic lateral sclerosis. Lancet Neurol. 2015 Aug;14(8):786-788.

https://pubmed.ncbi.nlm.nih.gov/26194923

Turner MR, Benatar M. Ensuring continued progress in biomarkers for amyotrophic lateral sclerosis. Muscle Nerve. 2015 Jan;51(1):14-8. Epub 2014 Nov 24.

https://pubmed.ncbi.nlm.nih.gov/25288265

Benatar M, Wuu J, Ravits J. Opportunity and innovation in studying pre-symptomatic amyotrophic lateral sclerosis. Muscle Nerve. 2013 May;47(5):629-31. Epub 2013 Mar 15.

https://pubmed.ncbi.nlm.nih.gov/23494825

Turner MR, Hardiman O, Benatar M, Brooks BR, Chio A, de Carvalho M, Ince PG, Lin C, Miller RG, Mitsumoto H, Nicholson G, Ravits J, Shaw PJ, Swash M, Talbot K, Traynor BJ, Van den Berg LH, Veldink JH, Vucic S, Kiernan MC. Controversies and priorities in amyotrophic lateral sclerosis. Lancet Neurol. 2013 Mar;12(3):310-22.

https://pubmed.ncbi.nlm.nih.gov/23415570

Benatar M, Wuu J. Presymptomatic studies in ALS: rationale, challenges, and approach. Neurology. 2012 Oct 16;79(16):1732-9.

https://pubmed.ncbi.nlm.nih.gov/23071166

Turner MR, Grosskreutz J, Kassubek J, Abrahams S, Agosta F, Benatar M, Filippi M, Goldstein LH, van den Heuvel M, Kalra S, Lulé D, Mohammadi B; first Neuroimaging Symosium in ALS (NISALS). Towards a neuroimaging biomarker for amyotrophic lateral sclerosis. Lancet Neurol. 2011 May;10(5):400-3.

https://pubmed.ncbi.nlm.nih.gov/21511189

Benatar M, Tandan R. The Awaji criteria for the diagnosis of amyotrophic lateral sclerosis: have we put the cart before the horse? Muscle Nerve. 2011 Apr;43(4):461-3. Epub 2010 Dec 9.

https://pubmed.ncbi.nlm.nih.gov/21404284

Benatar M, Kurent J, Moore DH. Treatment for familial amyotrophic lateral sclerosis/motor neuron disease. Cochrane Database Syst Rev. 2009 Jan 21;2009(1):CD006153.

https://pubmed.ncbi.nlm.nih.gov/19160266

Schnabel J. Neuroscience: Standard model. Nature. 2008 Aug 7;454(7205):682-5.

https://pubmed.ncbi.nlm.nih.gov/18685674

Benatar M. What zebras and mice can teach us about familial ALS. Neuromuscul Disord. 2007 Oct;17(9-10):671-2. Epub 2007 Jul 12.

https://pubmed.ncbi.nlm.nih.gov/17627821

Benatar M. Lost in translation: treatment trials in the SOD1 mouse and in human ALS. Neurobiol Dis. 2007 Apr;26(1):1-13. Epub 2007 Jan 3.

https://pubmed.ncbi.nlm.nih.gov/17300945

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