Department of Health and Human Services Centers for Disease Control and Prevention Agency for Toxic Substances and Disease Registry 2020 National ALS Registry Annual Meeting August 4-5, 2020 Summary Report The findings and conclusions in this report are those of the author(s) and do not necessarily represent the official position of the Centers for Disease Control and Prevention/the Agency for Toxic Substances and Disease Registry. ATSDR’s Annual ALS Surveillance Meeting Summary Report August 4-5, 2020 Table of Contents Acronyms Used in this Document ................................................................................................................. 3 Welcome and Introductions........................................................................................................................... 5 Opening Remarks ......................................................................................................................................... 5 National ALS Registry Update ...................................................................................................................... 6 Impact of COVID-19: A Neurologist’s Perspective ..................................................................................... 12 Update on the National ALS Biorepository ................................................................................................. 13 Enrollment in the Registry & Web Portal Update ........................................................................................ 17 Questions and Discussion........................................................................................................................... 19 Partner Updates .......................................................................................................................................... 25 ALS Association ...................................................................................................................................... 25 Muscular Dystrophy Association ............................................................................................................. 29 Les Turner ALS Foundation .................................................................................................................... 32 Registry Communications & Outreach Initiatives ........................................................................................ 35 Update from Pharma ................................................................................................................................... 37 Questions and Discussion........................................................................................................................... 39 Update from Actively Funded Registry Grants: Part #1 .............................................................................. 43 ALS Risk in Latin Americans: A Population-Based Case-Control Comparative Study with 3 European Population-Based Cohorts ...................................................................................................................... 43 Environmental Risk Factors for ALS: Critical Time Periods and Genetic Interactions ........................... 47 Identification and Characterization of Potential Environmental Risk Factors for ALS: Using the ALS Registry Cases and a Control Population ............................................................................................... 49 Questions and Discussion....................................................................................................................... 52 Update from Actively Funded Registry Grants: Part #2 .............................................................................. 56 Novel Extracellular Vesicle and Molecular Biomarkers of Environmental Exposure and Disease Progression in ALS ................................................................................................................................. 56 Metabolomic Signatures Linking ALS to POPs Exposures ..................................................................... 59 A Novel Innate Immunity Risk Factor for ALS......................................................................................... 62 Questions and Discussion....................................................................................................................... 65 Persons Living with ALS Perspectives on the Registry .............................................................................. 68 Ed Tessaro .............................................................................................................................................. 68 Madeline Kennedy .................................................................................................................................. 69 Stephen Finger ........................................................................................................................................ 70 Ron Faretra ............................................................................................................................................. 74 Jeremy Van Tress ................................................................................................................................... 74 Next Steps and Discussion: Recommendations/Strategies, Wrap-Up, Adjourn ......................................... 76 2 ATSDR’s Annual ALS Surveillance Meeting Summary Report August 4-5, 2020 Acronyms Used in this Document Acronym Expansion AAN American Academy of Neurology ADA Americans with Disabilities Act AE Adverse Event AFB Air Force Base ALS Amyotrophic Lateral Sclerosis ALSA Amyotrophic Lateral Sclerosis Association ALSFRS ALS Functional Rating Scale ALSFRS-R Revised ALS Functional Rating Scale AQS Air Quality System ATSDR Agency for Toxic Substances and Disease Registry ATSU A.T. Still University AUC Area Under the Curve BMI Body Mass Index BYU Brigham Young University CDC Centers for Disease Control and Prevention CDMRP Congressionally Directed Medical Research Programs CIOs Centers, Institutes, and Organizations Cmax Maximum Concentration CNS Central Nervous System COViMS COVID-19 Infections in Multiple Sclerosis and Related Diseases CReATe Clinical Research in ALS and Related Disorders for Therapeutic Development CSF Cerebrospinal Fluid CVD Cardiovascular Disease HBM Health Belief Model HHS (Department of) Health and Human Services DNA Deoxyribonucleic Acid DoD Department of Defense DPH Department of Public Health DSMB Data Safety Monitoring Board DTHHS Division of Toxicology and Human Health Sciences DUA Data Use Agreement ECAS Edinburgh Cognitive and Behavioral ALS Screen EPA Environmental Protection Agency EuroMOTOR European Multidisciplinary ALS Network Identification to Cure Motor Neuron Degeneration EVs Extracellular Vesicles FACA Federal Advisory Committee FALS Familial ALS FDA Food and Drug Administration FSHD Facioscapulohumeral Muscular Dystrophy GUID Globally Unique Identifier GWAS Genome-Wide Association Study HAPs Hazardous Air Pollutants HERV-K Human Endogenous Retrovirus-K HPA High Performance Analytics IRB Institutional Review Board IDV® Symphony Integrated Dataverse® JEM Job Exposure Matrices LAENALS Latin American Epidemiology Network of ALS MD Muscular Dystrophy 3 ATSDR’s Annual ALS Surveillance Meeting Summary Report August 4-5, 2020 MDA Muscular Dystrophy Association MDPH Massachusetts Department of Public Health miRNA microRNA MGH Massachusetts General Hospital MMWR Morbidity and Mortality Weekly Report MND Motor Neuron Disease MS Multiple Sclerosis MTA Material Transfer Agreement MTDA Mitsubishi Tanabe Pharma Development America MTPA Mitsubishi Tanabe Pharma America MTPC Mitsubishi Tanabe Pharma Corporation NATA National Scale Air Toxics Assessment NCEH National Center for Environmental Health NCRI Neurological Clinical Research Institute NEALS Northeast Amyotrophic Lateral Sclerosis Consortium NIA National Institute on Aging NIEHS National Institute of Environmental Health Sciences NIH National Institutes of Health NIV Non-Invasive Ventilation NMD Neuromuscular Diseases NNE-OH Database New England and Ohio Database NOFO Notice of Funding Opportunity OHSU Oregon Health & Science University OMB Office of Management and Budget OS Oxidative Stress PALS Persons with Amyotrophic Lateral Sclerosis PARALS The Piemonte and Valle d’Aosta Register for ALS PBMCs Peripheral Blood Mononuclear Cells PCP Primary Care Physician PFOS Perfluorooctanesulfonic Acid PFOA Perfluorooctanoic acid PI Principal Investigator PII Personally Identifiable Information POP Persistent Organic Pollutant PPM Parts Per Million PSA Public Service Announcement RDCRN Rare Diseases Clinical Research Consortia REFINE-ALS Radicava (Edaravone) Findings in Biomarkers From ALS RNA Ribonucleic Acid SES Socioeconomic Status SfN Society for Neuroscience SMA Spinal Muscular Atrophy SME Subject Matter Expert SNPs Single-Nucleotide Polymorphisms SOD-1 Superoxide Dismutase 1 SSDI Social Security Disability Insurance SSN Social Security Number TBI Traumatic Brain Injury UCLA University of California Los Angeles US United States VA (United States Department of) Veterans Affairs WGS Whole Genome Sequence 4 ATSDR’s Annual ALS Surveillance Meeting Summary Report August 4-5, 2020 Centers for Disease Control and Prevention (CDC) Agency for Toxic Substances and Disease Registry (ATSDR) 2020 National ALS Registry Annual Meeting Minutes of the Meeting August 4-5, 2020 Welcome and Introductions Tom Hicks, Moderator Public Health Advisor