Research Studies
Study Title
CReATe Consortium: PGB2 (Phenotype-Genotype-Biomarkers) Study
Enrollment Status
Recruiting
Principal Investigators
Michael Benatar, MD, PhD
Study Type
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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- 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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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
Contact
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.
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.