Research Studies

Study Title

CReATe Consortium: PGB2 (Phenotype-Genotype-Biomarkers) Study

Enrollment Status

Current

Principal Investigators

Michael Benatar, MD, PhD

Study Type

Observational

Goals

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 Validate the first ALS-specific patient reported outcome measure for use in future clinical trials Evaluate the utility of blood-based measurements of neurofilaments for the diagnosis of ALS

Enrolling

ALS, PMA, PLS, HSP, or MSP patients

Eligibility

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Primary participants:

  • Clinical diagnosis (or suspicion) of ALS or a related disorder, including progressive muscular atrophy (PMA), primary lateral sclerosis (PLS), hereditary spastic paraplegia (HSP), and multi-system proteinopathy (MSP)
  • Able and willing to comply with study procedures

Secondary participants:

  • Family members (both affected and unaffected) of primary participants

Study Involvement

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5 in-person study visits (3-6 months apart), at UMiami (or another study site), over an 18-24-months period
Study visits entail:

  • Family and medical history review
  • Blood, urine, and (optional) CSF collection
  • Neurological exam
  • Neuropsychological assessment
  • Breathing test
  • Questionnaires/surveys

Quarterly phone calls after last in-person visit

Links

Primary Funding Source

NIH

Related Publications

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Nel M, Mavundla T, Gultig K, Botha G, Mulder N, Benatar M, Wuu J, Cooley A, Myers J, Rampersaud E, Wu G, Heckmann JM. Repeats expansions in ATXN2, NOP56, NIPA1 and ATXN1 are not associated with ALS in Africans. IBRO Neurosci Rep. 2021 Feb 10;10:130-135. eCollection 2021 Jun.

https://pubmed.ncbi.nlm.nih.gov/34179866

Edmonson MN, Patel AN, Hedges DJ, Wang Z, Rampersaud E, Kesserwan CA, Zhou X, Liu Y, Newman S, Rusch MC, McLeod CL, Wilkinson MR, Rice SV, Soussi T, Taylor JP, Benatar M, Becksfort JB, Nichols KE, Robison LL, Downing JR, Zhang J. Pediatric Cancer Variant Pathogenicity Information Exchange (PeCanPIE): a cloud-based platform for curating and classifying germline variants. Genome Res. 2019 Sep;29(9):1555-1565. Epub 2019 Aug 22.

https://pubmed.ncbi.nlm.nih.gov/31439692

Related Presentations & Lectures

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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). Biomarkers for ALS therapy development. Seminar at the Technical Univeristy of Munich, Germany, Feb, 2021.

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). 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.