How Common Are ALS Plateaus and Reversals?
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46 L Nursing2015 L Volume 45, Number 10 46 L
46 l Nursing2015 l Volume 45, Number 10 www.Nursing2015.com Copyright © 2015 Wolters Kluwer Health, Inc. All rights reserved. 2.0 ANCC ALCONTACT HOURSS Amyotrophic lateral sclerosis: What nurses need to know By Tamara L. Bellomo, MSN, RN-BC, and Lucille Cichminski, MSN, RN A MOTHER OF THREE teenage children, Mrs. is one of the most common neuromuscular dis- S, 49, presented to her healthcare provider eases in the world. This rapidly progressive, fatal with bilateral leg twitching and weakness, dif- neuromuscular disease involves the degeneration ficulty swallowing, and fatigue that’s worsened and death of the upper and lower motor neu- over the past few weeks. While she was on her rons.1 This article discusses the diagnosis and daily morning walk, she tripped and fell. She treatment of ALS and how nurses can help their experienced a small laceration to her leg, patients deal with the difficult diagnosis and find prompting her visit to the healthcare facility. the resources they and their families need. Her husband said that she’d had periods of slurred speech over the past few months as Who’s affected? well. She was alert and oriented, and her vital An estimated 20,000 to 30,000 Americans are signs were all within normal limits. living with ALS, and about 5,000 new cases After an exam, her healthcare provider are diagnosed each year in the United States.2 referred her to a neurologist who ordered This disease affects people of all ethnic, socio- magnetic resonance imaging (MRI), an electro- economic, and racial backgrounds.2,3 ALS most HOTOTAKE / P myogram, and a full bloodwork panel. -
FUNDELA Boletín Científico 45
ABRIL 2013 Fundación Española para el Fomento de la Investigación de la Esclerosis Lateral Amiotrófica FUNDELA Boletín Científico 45 El boletín de FUNDELA publica resúmenes y artículos científicos referentes a los últimos avances de la investigación, tratamientos sintomáticos y cuidados al paciente con ELA. Se envía periódicamente a más de 400 suscriptores, entre los que se encuentran profesionales de la salud, pacientes y familiares de España y Latinoamérica. Todos los boletines pueden descargarse en nuestra web www.fundela.es FUNDELA no asume responsabilidades por la información que contiene este boletín. Necesitamos ayuda económica para continuar en los proyectos que indicamos a continuación •PROYECTOS PILOTO DE DETERMINACION DE DIFERENTES POSIBLES BIOMARCADORES EN PLASMA Y CELULAS MONONUCLEARES DE SANGRE PERIFERICA EN PACIENTES CON ELA •PUESTA A PUNTO DE UN ALGORITMO MOLECULAR DIAGNOSTICO EN PACIENTES CON ELA Y DEGENERACION LOBULAR FRONTOTEMPORAL •REHABILITACIÓN EN ESCLEROSIS LATERAL AMIOTRÓFICA: TERAPIA OCUPACIONAL Y LOGOPEDIA •BOLETIN CIENTIFICO Actualmente contamos con subvenciones de SEALED AIR BUÑOL, Fundación MUPITI y FRANHUR, La Caixa y aportaciones particulares de pacientes y familiares que sufren la ELA. Su donativo le dará derecho a practicar una deducción en la cuota del impuesto sobre la renta. La deducción será del 25% como persona física y del 35% como empresa. Para realizar donaciones económicas pedimos suscribirse en nuestra página web: http://www.fundela.es/captaBanco.php Colaboradores voluntarios de este número: Dr. Alberto García Redondo (Bioquímico, Unidad Hospital 12 de octubre) de ELA – Hospital 12 de octubre) Dra. María Teresa Solas (Bióloga, Universidad Dra. Elena Rodríguez García (Bioquímica – Complutense) Voluntaria FUNDELA) Dra. Teresa Salas (Psicóloga, Unidad de ELA - Dr. -
2018 National ALS Registry Annual Meeting Executive Summary
ATSDR’s Annual ALS Surveillance Meeting Summary Report August 1-2, 2017 2018 National ALS Registry Annual Meeting Executive Summary The cause(s) of ALS (Amyotrophic Lateral Sclerosis) remain unknown for 90-95 percent of those diagnosed with the disease and there is still no cure. The Agency for Toxic Substances and Disease Registry (ATSDR) established the National ALS Registry to determine how many people in the US are living with ALS, to describe the demographics of ALS patients, and most importantly to examine the risk factors for ALS. Although the Registry’s primary purpose is to capture cases of ALS, the Registry does a lot more than just count cases. The Registry is also: Funding ALS research, Collecting specimens from Registry enrollees through the National ALS Biorepository, Connecting patients with researchers recruiting for ALS clinical trials or epidemiological studies, Obtaining etiologic data from Registry enrollees through 17 different online risk factor modules such as occupational history, military history, residential history, history of traumatic brain injury (TBI), Providing data and biospecimens to scientists to further ALS research. The National ALS Registry Annual Meeting was held in Atlanta on August 7-8, 2018. There were 51 attendees, including persons living with ALS, neurologists, researchers, representatives of national ALS organizations, representatives of pharmaceutical companies, Registry staff, and other ALS experts. Background, Methodology, and State of the Registry Because ALS is a non-notifiable condition, CDC does not receive reports from states of the occurrence of ALS, as it does for most communicable diseases. The novel methodology developed by ATSDR for identifying newly diagnosed ALS cases uses data from national administrative databases (i.e., Medicare and the Veterans Administration) in addition to the information entered into the online Registry web portal by persons living with ALS. -
BOOK of ABSTRACTS OXFORD ENCALS Meeting 2018
2018 MEETING 20-22 JUNE 2018 BOOK OF ABSTRACTS OXFORD ENCALS Meeting 2018 Acknowledgements ENCALS would like to thank the following sponsors for their generous support of this year’s meeting. Gold Sponsor Silver Sponsors Bronze Sponsors 2 ENCALS Meeting 2018 Poster Session 1: Wednesday 20th June, 18:00 - 19:30 Entrance Hall: A01 Hot-spot KIF5A mutations cause familial ALS David Brenner* (1), Rüstem Yilmaz (1), Kathrin Müller (1), Torsten Grehl (2), Susanne Petri (3), Thomas Meyer (4), Julian Grosskreutz (5), Patrick Weydt (1, 6), Wolfgang Ruf (1), Christoph Neuwirth (7), Markus Weber (7), Susana Pinto (8, 9), Kristl G. Claeys (10, 11, 12), Berthold Schrank (13), Berit Jordan (14), Antje Knehr (1), Kornelia Günther (1), Annemarie Hübers (1), Daniel Zeller (15), The German ALS network MND-NET, Christian Kubisch (16, 17), Sibylle Jablonka (18), Michael Sendtner (18), Thomas Klopstock (19), Mamede de Carvalho (8, 20), Anne Sperfeld (14), Guntram Borck (16), Alexander E. Volk (16, 17), Johannes Dorst (1), Joachim Weis (10), Markus Otto (1), Joachim Schuster (1), Kelly del Tredici (1), Heiko Braak (1), Karin M. Danzer (1), Axel Freischmidt (1), Thomas Meitinger (21), Tim M. Strom (21), Albert C. Ludolph (1), Peter M. Andersen (1, 9), and Jochen H. Weishaupt (1) Heterozygous missense mutations in the N-terminal motor or coiled-coil domains of the kinesin family member 5A (KIF5A) gene cause monogenic spastic paraplegia (HSP10) and Charcot-Marie-Tooth disease type 2 (CMT2). Moreover, heterozygous de novo frame-shift mutations in the C-terminal domain of KIF5A are associated with neonatal intractable myoclonus, a neurodevelopmental syndrome. -
Group Statement
May 25, 2021 ALS Organizations Double Down on Their Support for Reintroduced Legislation That Will Accelerate Research and Encourage Access to Critical Investigational Therapies for Those Living with ALS. Today, leaders in the House of Representatives and Senate reintroduced the Accelerating Access to Critical Therapies for ALS Act. The ALS Association, I AM ALS, and the Muscular Dystrophy Association (MDA) endorse the revised legislation with this statement: “The Accelerating Access to Critical Therapies (ACT) for ALS Act builds new pathways to fund early access to ALS investigational therapies, accelerates ALS and rare neurodegenerative disease therapeutic development through a public-private partnership, and increases research on, and development of, interventions for rare neurodegenerative diseases through a new Food and Drug Administration (FDA) research grants program. The ALS Association, I AM ALS, and the Muscular Dystrophy Association endorse this legislation that is a paradigm shift in how therapeutic development, access to treatments, and research has been approached in a fatal, fast- progressing disease like ALS. The ACT for ALS will authorize $100 million a year over a five-year period to: (1) create a new grant program that funds access to investigational ALS treatments currently in development from small biotechnology companies for those patients who cannot participate in clinical trials, while concurrently supporting a research objective on how these investigational treatments impact the disease; (2) establish a Health -
Drug Development for Amyotrophic Lateral Sclerosis Guidance for Industry
Drug Development for Amyotrophic Lateral Sclerosis Guidance for Industry August 2017 Contents I. INTRODUCTION ................................................................................................................ 1 II. BACKGROUND ................................................................................................................... 2 III. BENEFIT RISK...................................................................................................................... 5 A. General comments .................................................................................................................. 5 B. Evidence of patient and caregiver preferences ....................................................................... 5 C. Implications of patient risk/benefit preferences in ALS ......................................................... 7 1. Alternative endpoints........................................................................................................... 7 2. Placebo control arm ............................................................................................................. 8 3. Threshold for statistical significance ................................................................................... 9 4. Method of delivery ............................................................................................................ 10 5. Role of expanded access and accelerated approval ........................................................... 11 6. Patient protection and need for informed -
A Er the Wildly Successful Ice Bucket Challenge
RESEARCH FEBRUARY/MARCH 2015 BY GINA SHAW Azer the Wildly Successful Ice Bucket Challenge ~e Ice Bucket Challenge raised big bucks on social media. Now, the ALS Association tells us where that cold, hard cash is going. As snowstorms and icy winds batter much of the country, it's hard to imagine willingly pouring a bucket of ice water over your head for any reason. But last August—when temperatures were much more forgiving—that's exactly what about 3 million people did. In an astonishing example of the power of social media, a July 31 dare from former Boston College baseball player Pete Frates, who was diagnosed with amyotrophic lateral sclerosis (ALS) in 2012, quickly went viral. The dare? Dump ice water on your head within 24 hours of being challenged or donate $100 (or whatever amount you could afford) to the ALS Association or another organization supporting ALS research. Pretty soon, the Ice Bucket Challenge meant dumping ice on your head and donating money, and everyone from your neighbor's preschooler to Bill Gates (with a custom-built ice douser), Oprah Winfrey, Jon Bon Jovi, and entire casts of Broadway shows were doing it—and posting their videos online. Even 86-year-old Ethel Kennedy took the challenge. (President Obama donated but declined the ice; actor Patrick Stewart posted a video of himself writing a check.) In La Jolla, CA, prominent ALS researcher Don Cleveland, PhD, who pioneered a novel therapy that turns off the defective genes that contribute to neurodegenerative diseases, watched the online commotion with skepticism. -
Genetics and Genomics
31st International Symposium on ALS/MND Theme 02 – Genetics and Genomics GEN-01: An Interval Look at Early outcomes of strength (ATLIS), bulbar function (quantitative speech analysis and IOPI), and disease Markers of Disease in Familial ALS progression (change in ALSFRS-R total score over time). Isabel Anez-Brunzual1, Austin Lewis, Katherine Burke1, Multiple measures of strength (ATLIS, HHD) and Diane Lucente1, Jennifer Jockel-Balsarotti2, Margaret cognition (NIH examiner, ALS-CBS) will be evaluated in all participants over time. Clapp2, Amber Malcolm2, Taylor Stirrat1, Stephanie Berry1, Tania Gendron3, Mercedes Prudencio3, Kathryn Results to date: Connaghan4, James Chan5, Jordan Green4, Leonard Petrucelli3, James Berry1, Timothy Miller2, Dr Katharine Interval analysis will be shown for 86 participants Nicholson1 enrolled in the DIALS Network. Forty-one of 86 1Massachusetts General Hospital, Boston, United States, participants are positive for an ALS causative mutation 2Washington University, Saint Louis, United States, 3Mayo (33 C9orf72, 5 SOD1, 1 TARDBP, 1 VAPB, and 1 FIG4). Clinic, Jacksonville, United States, 4MGH Institute of Health Peri-conversion data will be shown for the 4 C9orf72 Professions, Boston, United States, 5Biostatistics Center, MGH, carriers (3 ALS, 1 FTD) who have developed symptoms. Boston, United States Longitudinal strength, bulbar, and cognitive outcome data as well as direct biomarker comparison will be Live Poster Session A, December 9, 2020, 5:10 PM - 5:50 shown. DIALS enrollment and follow-up visits are PM ongoing. Background: Discussion: The validation of sensitive biofluid markers of inciting The DIALS Network dataset is composed of a growing disease pathology and clinical outcomes is crucial to number of pre-symptomatic ALS gene carriers, now detecting early disease, and to understanding the onset including several symptom converters. -
The Ice Bucket Challenge Chatter the Campaign Went Viral Who's Talking
TREATO: AFTER THE ALS ICE BUCKET CHALLENGE, WHAT IS THE HEALTH CONSUMER SAYING? Last summer’s ALS Ice Bucket Challenge was one of the most successful social media campaigns of all-time. Millions dumped a bucket of ice water on their head to promote awareness of the disease amyotrophic lateral sclerosis (ALS, also known as Lou Gehrig's Disease) and encourage donations to the ALS Association. Round Rock High School Dragon Band - photo by Henry Huey The campaign went viral More than 1billion 2.4 views million + videos posted to Watch Bill Gates ice #donate bucket challenge! $220 #ALS @alsassociation million raised Promoting awareness & AUGUST So what did the health consumer really think of such a grand campaign? With August creeping closer, will we see the same social virality that 1 2015 consumed YouTube and Facebook a year earlier? Online activity Discussions about ALS over time % Posts Monthly Although campaign sustainability was short, conversations still remain stead- ily higher than a year ago. 4/1/2014 7/1/2014 10/1/2014 1/1/2015 4/1/2015 ALS discussions grew by close to 6x the normal activity from July through August, a reflection the effectiveness of the ALS campaign Discussions about ice bucket challenge and ALS over time 35% Almost 30% of the ALS 30% discussions last August were 25% 20% about the ice bucket challenge. 15% The conversations then dropped 10% but we are beginning to see a 5% rise again this June. 0% Who's talking? 44% of all patients discussing ALS The percentage of caregivers are within the 30-49 age group, in talking about ALS is considerably contrast to a disease that is most higher than with other conditions prominent in the 50+ age group. -
Technologies for Improving the Lives of People With
Technologies for improving the UW CSE MSR Summer lives of people with ALS Institute 2016 Rico Malvar Expanding Chief Scientist and Distinguished Engineer Accessibility Research What is ALS (Lou Gehrig’s Disease) • ALS, or amyotrophic lateral sclerosis, is a progressive neurodegenerative disease that affects nerve cells in the brain and the spinal cord. A-myo-trophic comes from the Greek language. "A" means no. "Myo" refers to muscle, and "Trophic" means nourishment – "No muscle nourishment." When a muscle has no nourishment, it "atrophies" or wastes away. Lateral identifies the areas in a person's spinal cord where portions of the nerve cells that signal and control the muscles are located. As this area degenerates it leads to scarring or hardening ("sclerosis") in the region. • Motor neurons reach from the brain to the spinal cord and from the spinal cord to the muscles throughout the body. The progressive degeneration of the motor neurons in ALS eventually leads to their demise. When the motor neurons die, the ability of the brain to initiate and control muscle movement is lost. With voluntary muscle action progressively affected, people may lose the ability to speak, eat, move and breathe. The motor nerves that are affected when you have ALS are the motor neurons that provide voluntary movements and muscle control. Examples of voluntary movements are making the effort to reach for a smart phone or step off a curb. These actions are controlled by the muscles in the arms and legs. Source: “What is ALS”, ALS Association Ten Things about ALS 1. Every 90 minutes someone in the US is diagnosed with ALS. -
Join the Fight Against Lou Gehrig's Disease! the ALS Association
The ALS Association Greater New York Chapter Join the fight against Lou Gehrig’s Disease! Amyotrophic Lateral Sclerosis (ALS) is a progressive neurodegenerative disease that affects nerve cells in the brain and the spinal cord. Eventually, people with ALS lose the ability to initiate and control muscle movement, which often leads to total paralysis and death within two to five years of diagnosis. There is no cure, and only one drug approved by the U.S. Food and Drug Administration (FDA) modestly Nerve Cells extends life expectancy. Cell Body axon axon atrophied muscle muscle Normal nerve cell ALS and muscle -affected nerve cell and muscle About The ALS Association Greater New York Chapter The ALS Association is the only national, 501(c)(3) not-for-profit voluntary health organization whose mission is to lead the fight to cure and treat ALS through global cutting-edge research, and to empower people with Lou Gehrig’s disease and their families to lead fuller lives by providing them with compassionate care and support. The Greater New York Chapter provides a full range of essential patient and family services in all five boroughs of New York City, Long Island, Westchester County, the Hudson Valley, and northern and central New Jersey. 2 Students Challenge ALS • 2015 is a school-based program supported by The ALS Association Greater New York Chapter that provides students with the tools to become advocates for the ALS community by encouraging and emphasizing community activism. The goal of this program is to increase support for those living with Lou Gehrig’s disease by raising funds and awareness to improve the lives of ALS patients and their families. -
24Th Annual Meeting Sunday and Monday, 4-‐5 December 2016
24th Annual Meeting Sunday and Monday, 4-5 December 2016 Liffey Hall 2, Convention Centre Dublin AGENDA SUNDAY, 4 DECEMBER 2016 08:45 1 Welcome & Introduction (30 min) 09:15 Annual General Meeting (45 min) 10:00 2 Opening Remarks from the General Manager (15 min) 10:15 Morning Refreshments (30 min) 10:45 3 Welcoming Our NeW Members (15 min) 11:00 Programming for PALS/CALS (60 min) 4 Beyond Awareness Gaps Hiroki Okabe, Japan ALS Association 5 The Cost of Achieving Your Goals: Assistive Technology Program in Israel Efrat Carmi, IsrALS 6 A Comprehensive Information and Education Resource for People with MND, their Carers, Health and Community Care Providers Gina Svolos, MND Australia 7 New Challenges to Our Association Alessandra Dorca, ALS Pro-Cura Association 12:00 Lunch (60 min) 13:00 Programming for PALS/CALS Continued (30 min) 8 ACELA: A Vision of Hope Rocio Reyes, ACELA, Colombia 9 Life Is Now Gudjon Sigurdsson, MND Iceland 13:30 Partnerships and Collaborations (90 min) 10 A Phased Shift in MND Care in Scotland Craig Stockton, MND Scotland 11 Victories and Partnerships Tatiana Mesquita e Silva, ABrELA 12 Local Fundraising for Project MinE Gorrit-Jan Blonk, ALS Netherlands 13 Using the MND Association’s Experience to Promote Optimal Care and Support in Russia Anna Kassianova, Martha-Mary Medical Centre “Miloserdie” 14 The South African MND Caregiving Experience: Lessons Learned from a Cross-Country Collaboration Melinda Kavanaugh, University of Wisconsin-MilWaukee 15 First Ever ALS Student Exchange Jodi O’Donnell, Hope Loves Company