CReATe Consortium: PGB1 (Phenotype-Genotype-Biomarkers) Study
Michael Benatar, MD, PhD
- Better understand the phenotype-genotype relationship in ALS and related disorders, as well as the potential impact of environment exposures
- Develop biomarkers that might be useful in aiding therapy development for this group of disorders
ALS, PMA, PLS, HSP, or MSP patients
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Selected family members of enrolled affected individuals
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Study visits entail:
- Family and medical history review
- Blood, urine, and (optional) CSF collection
- Neurological exam
- Neuropsychological assessment
- Breathing test
Annual phone calls after last in-person visit
Primary Funding Source
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Wang TW, Wuu J, Cooley A, Yeh TS, Benatar M, Weisskopf M. Occupational lead exposure and survival with amyotrophic lateral sclerosis. Amyotroph Lateral Scler Frontotemporal Degener. 2022 Apr 9:1-8. Online ahead of print.
Nel M, Mahungu AC, Monnakgotla N, Botha GR, Mulder NJ, Wu G, Rampersaud E, van Blitterswijk M, Wuu J, Cooley A, Myers J, Rademakers R, Taylor JP, Benatar M, Heckmann JM. Revealing the mutational spectrum in Southern Africans with amyotrophic lateral sclerosis. Neurol Genet. 2022 Jan 12;8(1):e654. eCollection 2022 Feb.
Puentes F, Lombardi V, Lu CH, Yildiz O, Fratta P, Isaacs A, Bobeva Y, Wuu J, ALS Biomarker Consortium, CReATe Consortium, Benatar M, Malaspina A. Humoral response to neurofilaments and dipeptide repeats in ALS progression. Ann Clin Transl Neurol. 2021 Jul 27. Online ahead of print.
Placek K, Benatar M, Wuu J, Rampersaud E, Hennessy L, Van Deerlin VM, Grossman M, Irwin DJ, Elman L, McCluskey L, Quinn C, Granit V, Statland JM, Burns TM, Ravits J, Swenson A, Katz J, Pioro EP, Jackson C, Caress J, So Y, Maiser S, Walk D, Lee EB, Trojanowski JQ, Cook P, Gee J, Sha J, Naj AC, Rademakers R; CReATe Consortium, Chen W, Wu G, Paul Taylor J, McMillan CT. Machine learning suggests polygenic risk for cognitive dysfunction in amyotrophic lateral sclerosis. EMBO Mol Med. 2020 Dec 3:e12595.
Benatar M, Zhang L, Wang L, Granit V, Statland J, Barohn R, Swenson A, Ravits J, Jackson C, Burns TM, Trivedi J, Pioro EP, Caress J, Katz J, McCauley JL, Rademakers R, Malaspina A, Ostrow LW, Wuu J; CReATe Consortium. Validation of serum neurofilaments as prognostic and potential pharmacodynamic biomarkers for ALS. Neurology. 2020 Jul 7;95(1):e59-e69. Epub 2020 May 8.
Farhan SMK, Howrigan DP, Abbott LE, Klim JR, Topp SD, Byrnes AE, Churchhouse C, Phatnani H, Smith BN, Rampersaud E, Wu G, Wuu J, Shatunov A, Iacoangeli A, Al Khleifat A, Mordes DA, Ghosh S; ALSGENS Consortium; FALS Consortium; Project MinE Consortium; CReATe Consortium, Eggan K, Rademakers R, McCauley JL, Schüle R, Züchner S, Benatar M, Taylor JP, Nalls M, Gotkine M, Shaw PJ, Morrison KE, Al-Chalabi A, Traynor B, Shaw CE, Goldstein DB, Harms MB, Daly MJ, Neale BM. Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock protein. Nat Neurosci. 2019 Dec;22(12):1966-1974. Epub 2019 Nov 25.
Nicolas A, Kenna KP, Renton AE, Ticozzi N, Faghri F, Chia R, Dominov JA, Kenna BJ, Nalls MA, Keagle P, Rivera AM, van Rheenen W, Murphy NA, van Vugt JJFA, Geiger JT, Van der Spek RA, Pliner HA, Shankaracharya, Smith BN, Marangi G, Topp SD, Abramzon Y, Gkazi AS, Eicher JD, Kenna A; ITALSGEN Consortium, Mora G, Calvo A, Mazzini L, Riva N, Mandrioli J, Caponnetto C, Battistini S, Volanti P, La Bella V, Conforti FL, Borghero G, Messina S, Simone IL, Trojsi F, Salvi F, Logullo FO, D'Alfonso S, Corrado L, Capasso M, Ferrucci L; Genomic Translation for ALS Care (GTAC) Consortium, Moreno CAM, Kamalakaran S, Goldstein DB; ALS Sequencing Consortium, Gitler AD, Harris T, Myers RM; NYGC ALS Consortium, Phatnani H, Musunuri RL, Evani US, Abhyankar A, Zody MC; Answer ALS Foundation, Kaye J, Finkbeiner S, Wyman SK, LeNail A, Lima L, Fraenkel E, Svendsen CN, Thompson LM, Van Eyk JE, Berry JD, Miller TM, Kolb SJ, Cudkowicz M, Baxi E; Clinical Research in ALS and Related Disorders for Therapeutic Development (CReATe) Consortium, Benatar M, Taylor JP, Rampersaud E, Wu G, Wuu J; SLAGEN Consortium, Lauria G, Verde F, Fogh I, Tiloca C, Comi GP, Sorarù G, Cereda C; French ALS Consortium, Corcia P, Laaksovirta H, Myllykangas L, Jansson L, Valori M, Ealing J, Hamdalla H, Rollinson S, Pickering-Brown S, Orrell RW, et al. Genome-wide Analyses Identify KIF5A as a Novel ALS Gene. Neuron. 2018 Mar 21;97(6):1268-1283.e6.
Pottier C, Rampersaud E, Baker M, Wu G, Wuu J, McCauley JL, Zuchner S, Schule R, Bermudez C, Hussain S, Cooley A, Wallace M, Zhang J, Taylor JP, Benatar M, Rademakers R. Identification of compound heterozygous variants in OPTN in an ALS-FTD patient from the CReATe consortium: a case report. Amyotroph Lateral Scler Frontotemporal Degener. 2018 Aug;19(5-6):469-471. Epub 2018 Mar 20.
Related Presentations & Lectures
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Statland J (presenter), Karanevich A, Wuu J, Swenson A, Barohn RJ, Schule R, Jackson C, Ravits J, Granit V, McCauley J, Zuckner S, Caress J, Trivedi J, Maiser S, Walk D, Pioro E, McMillan C, Elman L, Katz J, Heckmann J, Burns T, So Y, Wu G, Rampersaud E, Rademakers R, van Blitterswijk M, Taylor JP, Benatar M, on behalf of the CReATe Consortium. Genotype phenotype correlation and longitudinal study of hereditary spastic paraplegia and primary lateral sclerosis. Platform presentation at the 30th International Symposium on ALS/MND, Perth, Australia, Dec 4-6, 2019.
Benatar M (presenter), Fernandez C, Weihl C, Wuu J, Katzen H, Oskarsson B, Steele J, Taylor JP. Motor neuron involvement in multi-system proteinopathy: Implications for ALS/MND. Platform presentation at the 23rd International Symposium on ALS/MND, Chicago, IL, Dec 5-7, 2012.
Benatar M (invited speaker). Evolving Paradigms in ALS Therapy Development. 147th Annual Meeting of the American Neurological Association. Chicago, IL, Oct 22-25, 2022.
McHutchison C (presenter). Does cognition and behaviour change over time in ALS? Euan MacDonald Centre for MND Research Academic Afternoon. Univeristy of Edinburgh, Edinburgh, UK, June 14, 2021.
McHutchison C (presenter). Does cognition and behaviour change over time in ALS? Presentation to the RDCRN Career Enhencement Committee. Virtual, March 15, 2021.
McMillan CT (presenter), Wuu J, Hennessy L, Placek K, Clinical Research in ALS (CRiALS) Study, Clinical Research in ALS and Related Disorders for Therapeutic Development (CReATe) Consortium, Canadian ALS Neuroimaging Consortium (CALSNIC), Quinn C, Elman L, Grossman M, Rampersaud E, Wu G, Taylor JP, Kalra S, Benatar M. Frequency, hazard, and genetic risk factors of cognitive impairment in amyotrophic lateral sclerosis (ALS). Invited presentation at the International Neuropsychological Society Annual Meeting (virtual), Feb 2-5, 2021.
Benatar M (invited speaker). Biomarkers for ALS therapy development. Seminar at the Technical Univeristy of Munich, Germany, Feb, 2021.
Benatar M (invited speaker). Symptomatic and pre-symptomatic biomarkers for ALS therapy development. Johns Hopkins ALS Clinical Trials Unit, Jan, 2021.
Benatar M (invited speaker). ALS Therapy Development. 44th Annual Jerome K Merlis Lectureship in Neuroscience. Department of Neurology, University of Maryland School of Medicine, Baltimore, MD, October 2020.
Benatar M (invited speaker). Biomarkers for ALS Therapy Development. 5th Ottawa International Conference on Neuromuscular Disease and Biology. Ottawa, Canada, October 2019.
Benatar M (invited speaker). Biomarker Validation. Target ALS Annual Meeting. Boston, MA, May 2018.
Benatar M (invited speaker). Genetic Advances in ALS: Insights and Implications. University of Iowa Annual Neurogenetics Meeting. Iowa City, IA, October 2015.
Benatar M (invited speaker). Year in Review: ALS. American Academy of Neurology 65th Annual Meeting. San Diego, CA, March 2013.
Benatar M (invited speaker). Multisystem Proteinopathy: Implications for ALS/MND. Visiting Professor and Guest Lecturer, South African Neurological Association Meeting. Johannesburg, South Africa, March 2009.