Principal Investigator: Michael Benatar, MD, PhD (University of Miami Site)
This is a longitudinal study of people who are at risk for developing familial amyotrophic lateral sclerosis (fALS), with the specific goal of improving our understanding of the pre-symptomatic phase of fALS. Participation in the study involves undergoing genetic testing with the option of whether or not to learn genetic test results. Individuals who have undergone genetic testing and can provide documentation of genetic test results may be eligible to participate. Undergoing genetic testing for this study requires that the genetic mutation responsible for ALS in the family be identified.
Eligible participants are invited to travel to the University of Miami every 12-24 months to undergo study procedures (e.g., MRI, neurological examination, environmental risk factors survey, collection of blood and urine samples, cognitive testing, etc.). Participants receive follow up calls every 3-4 months between study visits.
- Age ≥ 18 years
- Member of a family in which at least two relatives have been affected with ALS.
- Being at risk for ALS based on a family history of the disease (e.g. having a biological parent, sibling or child with ALS)
- Genetic mutation in the SOD1, C9ORF72, TDP-43, FUS, or other fALS gene in a family member
- Currently no symptoms to suggest the presence of ALS
- Willingness to undergo genetic testing with the option of whether or not to learn the results.
- Willingness and availability to travel to University of Miami every 12-24 months to undergo study procedures
- Peter Andersen, MD, DMSc (Umea University, Sweden)
- Christine Stanislaw, MS (Emory University)
Physiology and Motor Function
- Seward Rutkove, MD (Beth Israel Deaconess Medical Center)
- Ralf Reilmann, MD, PhD (University of Munster, Germany)
- Martin Turner, MD, Phd (University of Oxford, UK)
- Sharon Abrahams, PhD (University of Edinburgh, UK)
- Christina Bermudez, PhD (University of Miami)
- Gustavo Rey, PhD (University of Miami)
- Oleg Butovsky, PhD (Brigham and Women’s Hospital, Boston)
- Mary-Louise Rogers, PhD (Flinders University, Australia)
- Claes Wahlestedt, MD, PhD (University of Miami)
- Zane Zeier, PhD (University of Miami)
- Leonard Petrucelli, PhD (Mayo Clinic Florida – Jacksonville)
- Dana Barr, PhD (Centers for Disease Control and Prevention)
- Lorene Nelson, PhD (Stanford University)
- Rosemary Schleicher, PhD (Centers for Disease Control and Prevention)
- Joanna Fanos, PhD (Dartmouth Medical School)
- Danielle Dauphin, B.A. (University of Miami)
- Catalina Maria Fernandez, MD (University of Miami)
- Danielle Sheldon, B.S., CCRC (University of Miami)
- Eliana Reyes, B.A. (University of Miami Site)
- Email: firstname.lastname@example.org
- Phone: 1-888-413-9315
- Nordin A, Akimoto C, Wuolikainen A, Nordin F, Alstermark H, Forsberg K, Baumann P, Pinto S, de Carvalho M, Hübers A-M, Ludolph A, Weishaupt J, Meyer T, Grehl T, Schweikert K, Weber M, Burkhardt C, Neuwirth C, Holmøy T, Morita M, Tysnes O-B, Benatar M, Wuu J, Lange D, Bisgård C, Asgari N, Tarvainen I, Brännström T, Andersen PM. Sequence variations in C9orf72 downstream of the hexanucleotide repeat region and its effect on repeat-primed PCR interpretation: A large multinational screening study. Amyotroph Lateral Scler Frontotemporal Degener, in press
- Proudfoot M, Rohenkohl G, Quinn A, Colclough GL, Wuu J, Talbot K, Woolrich M, Benatar M, Nobre AC, Turner MR. Altered cortical beta-band oscillations reflect motor system degeneration in amyotrophic lateral sclerosis. Human Brain Mapping, 2016 Sep 13. [Pubmed Link]
- Benatar M, Stanislaw C, Reyes E, Hussain S, Cooley A, Fernandez MC, Dauphin D, Michon SC, Andersen PM, Wuu J. Pre-Symptomatic ALS Genetic Counseling and Testing: Experience and Recommendations. Neurology. 2016 June 14; 86:1-8. [ Pubmed Link ]
- Menke R, Proudfoot M, Wuu J, Anderson PM, Talbot K, Benatar M, Turner M. Increased functional connectivity common to symptomatic amyotrophic lateral sclerosis and those at genetic risk. J Neurol Neurosurg Psychiatry. 2016 Jan 5. [ Pubmed Link ]
- Benatar M, Wuu J, Ravits, J. Opportunity and innovation in studying pre-symptomatic amyotrophic lateral sclerosis. Muscle and Nerve, 47(5):629-31, 2013. [ Pubmed Link ]
- Benatar M, Wuu J. Presymptomatic studies in ALS: Rationale, challenges, and approach. Neurology. 2012;79(16):1732-1739. [ Pubmed Link ]
- Renton AE, Majounie E, Waite A, et al. A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD. Neuron. 2011 Oct 20;72(2):257-68. [ Pubmed Link ]
- Carew JD, Nair, G, Andersen PM, et al. Pre-symptomatic spinal cord neurometbolic findings in SOD1+ people at risk for famiilal ALS. Neurology. 2011 Oct 4; 77:1370-1375. [ Pubmed Link ] [ Press Release ]
- Shefner JM, Watson ML, Simionescu L, et al. Multipoint incremental motor unit number estimation as an outcome measure in ALS. Neurology. 2011 Jul 19;77(3):235-41. [ Pubmed Link ]
- Fanos J, Gronka S, Wuu J, et al. Impact of pre-symptomatic testing for familial amyotrophic lateral sclerosis. Genet Med. 2011 Apr;13(4):342-8. [ Pubmed Link ]
- Johnson JO, Mandrioli J, Benatar M, et al. Exome sequencing reveals VCP mutations as a cause of familial ALS. Neuron. 2010 Dec 9;68(5):857-64. [ Pubmed Link ]
- Benatar M, Polak M, Kaplan S, Glass J. Preventing familial amyotrophic lateral sclerosis: Is a clinical trial feasible? J Neurol Sci. 2006 Dec 21;251(1-2):3-9. [ Pubmed Link ]
- Benatar M, Reilmann R, Schubert R, Reyes E, Seleski C, Cooley A, Wuu J. Quantitative Motor Testing: Biomarker of Pre-Symptomatic ALS? Platform presentation at the 27th International Symposium on ALS/MND, Dublin, Ireland Dec 7-9, 2016.
- van Blitterswijk M, Finch NA, Wang X, Baker MC, Heckman MG, Gendron TF, Bieniek KF, Wuu J, DeJesus-Hernandez M, Brown PH, Chew J, Jansen-West KR, Daughrity LM, Nicholson AM, Murry ME, Belzil VV, Lee EB, Josephs KA, Parisi JE, Knopman DS, Petersen RC, Petrucelli L, Boeve BF, Graff-Radford NR, Asmann YW, Dickson DW, Benatar M, Bowser R, Boylan KB, Rademakers R. Expression of homeobox genes and transthyretin is changed in C9ORF72 expansion carriers. Platform presentation at the 27th International Symposium on ALS/MND, Dublin, Ireland, Dec 7-9, 2016.
- Proudfoot M, Rohenkohl G, Gould I, Wuu J, Andersen PM, Talbot K, Woolrich MW, Benatar M, Nobre AC, Turner MR. Changes in cortical β-oscillation dynamics across the clinical spectrum of motor neuron disease. Poster presentation at the Annual Spring Meeting for Clinician Scientists in Training, London, UK, Feb 25, 2016.
- Benatar M, Stanislaw C, Reyes E, Hussain S, Andersen PM, Wuu J. Pre-Symptomatic ALS genetic counseling and testing: Experience and recommendations. Platform presentation at the 26th International Symposium on ALS/MND, Orlando, FL, Dec 11-13, 2015.
- Benatar M, Carlile R, Reyes E, Hussain S, Garcia N, Andersen P, Stanislaw C, Wuu J. Models of ALS disease onset and progression: Insights from the Pre-fALS study. Poster presentation at the American Academy of Neurology 67th Annual Meeting, Washington, DC, Apr 18-25, 2015.
- Rogers ML, Wuu J, Shepheard SR, Chataway T, Schultz DW, Andersen PM, Benatar M. Urinary p75 neurotrophin receptor as a biomarker of symptomatic disease onset and progression. Poster presentation at the 25th International Symposium on ALS/MND, Brussels, Belgium, Dec 5-7, 2014.
- Proudfoot M, Rohenkohl G, Gould I, Talbot K, Woolrich M, Nobre AC, Wuu J, Benatar M, Turner MR. Etoencephalographic evidence of cortical motor dysfunction in ALS. Poster presentation at the 25th International Symposium on ALS/MND, Brussels, Belgium, Dec 5-7, 2014.
- Turner M, Filippini N, Govind V, Andersen PM, Stanislaw C, Reyes E, Hussain S, Wuu J, Benatar M. Pre-Symptomatic loss of cerebral white matter integrity in those at genetic risk of amyotrophic lateral sclerosis. Platform presentation at the American Academy of Neurology 66th Annual Meeting, Philadelphia, PA, Apr 26-May 3, 2014.
- Nair G, Wuu J, Gronka S, Walker M, Carew J, Benatar M. MRI evidence of disease in pre-symptomatic SOD1+ individuals at risk for developing familial ALS. Platform presentation at the 22nd International Symposium on ALS/MND, Sydney, Australia, Nov 30-Dec 2, 2011
- Nair G, Gronka S, Lu D, Wuu J, Hu XP, Benatar M. Towards an imaging-metric for presymptomatic manifestations of ALS. Poster presentation at the International Society for Magnetic Resonance in Medicine 19th Annual Meeting, Montreal, Canada, May 7-13, 2011
- Carew J, Nair G, Usher S, Hu X, Benatar M. Magnetic Resonance Spectroscopy of the Cervical Spine in ALS and Pre-symptomatic SOD1 Positive People. International Society for Magnetic Resonance in Medicine 19th Annual Meeting, Montreal, Canada, May 7-13, 2011
- Gronka S, Walker M, Wuu J, Stanislaw C, Fanos J, Atassi N, Jaffa M, Andersen P, Cudkowicz M, Benatar M. Telemedicine to facilitate ALS research. Platform presentation at the 21st International Symposium on ALS/MND, Orlando, FL, Dec 11-13, 2010
- Lu D, Rutkove S, Gronka S, Spieker A, Usher S, Wuu J, Andersen P, Benatar M. Electrical impedance myography (EIM) findings in pre-symptomatic SOD1+ subjects. Platform presentation at the 9th Annual Northeast ALS Consortium Meeting, Washington, DC, Oct 27-29, 2010
- Tackling the Challenges of ALS: A Familial Perspective.
21st International ALS/MND Meeting, Orlando, Florida, December 2010
Neurology Grand Rounds, University of Miami. Miami, March, 2010
Annual William L Halseth ALS Lecture, University of Colorado Denver. Aurora, February, 2010
Neurology Grand Rounds, University of South Florida. Tampa, December, 2009
20th International ALS/MND Meeting. Berlin, December 2009
Neurology Grand Rounds, University of Virginia. Charlottesville, June 2009
Human Genetics Grand Rounds, Emory University. Atlanta, February 2009
- Electrical Impedance Myography as a Pre-Symptomatic Biomarker of ALS. Poster presentation by Sharon Usher at the 20th International Symposium on ALS/MND Meeting, Berlin, December 2009
- Gronka S, Stanislaw C, Wuu J, Benatar M. Pre-symptomatic Testing for Familial ALS: The Pre-fALS Experience. Platform presentation by Sue Gronka at the Allied Health Professional Meeting affiliated with the 20th International Symposium on ALS/MND Meeting, Berlin, December 2009
- Gronka S, Wuu J, Stanislaw C, Usher S, Benatar M. Early results from the Pre-familial ALS (Pre-fALS) Study. Poster presentations by Sue Gronka at the 8th Annual Northeast ALS Consortium Meeting, St. Pete’s Beach, Florida, October 2009
- Benatar M, Polak M, Feng R. Predicting the Risk of Disease in Familial Amyotrophic Lateral Sclerosis. ANA Annual Meeting, Salt Lake City, September 2008
- Benatar M. Predictive, Preventive and Therapeutic Studies in Familial ALS. ALS Association Annual Leadership Forum, California. Orange County, January 2008
- Benatar M. Strategies for pre-symptomatic biomarker identification in familial ALS. Cold Spring Harbor Symposium on Drug Discovery, Biomarkers and Clinical Trials for ALS. Cold Spring Harbor, September 2007
- Benatar M. The Challenge of Preventing ALS. Neurology Grand Rounds, Emory University, Atlanta, May 2007
- Benatar M. The Feasibility of a Preventive Study in Familial ALS. 4th Annual Northeast Amyotrophic Lateral Sclerosis Consortium Meeting. Boston. September 2005
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