FightSMA Spinal Muscular Atrophy Conference 2010
2010 Researchers Conference
General Information
Dates: April 25-26, 2010
Location: L'Enfant Plaza Hotel, Washington, DC
Overview: Select researchers and scientists meet in an intimate setting to discuss the most recent research and clinical trials through presentations and open dialogue.
Schedule of Events
Sunday, April 25, 2010
| 5:00 PM | Welcome and Introduction by Dr. Chris Lorson | Ballroom D |
| 5:15 PM | STOP SMA Update, and Overview of Therapeutics in the Pipeline for Clinical Trials | Kathy Swoboda |
| Defects in Cytoskeletal Dynamics in a Mouse Model for Spinal Muscular Atrophy | Rashmi Kothary | |
| Role of RNA Splicing in Synaptic Dysfunction Triggered by SMN Deficiency | Livio Pellizzoni | |
| Generation and Characterization of SMA-iPS Cells | Allison Ebert | |
| 7:15 PM | Dinner | Ballroom D |
| 8:00 PM | Synaptic Function in SMA Mice | Charlotte Sumner |
| SMN Protein Function and Drug Analysis in Mice | Barrington Burnett | |
| Role of CNTF for Sprouting in a Mouse Model of Type III SMA | Michael Sendtner | |
| 9:30 PM | Meeting closes for the night |
Monday, April 26, 2010
| 8:00 AM | Breakfast | Quorum Room |
| 8:30 AM | SMA Models New and Old; What the Mice are Telling Us | Cathy Lutz |
| Animal Models and Drug Screening | Christine DiDonato | |
| In Vivo Validation of the SMN Read-Through Product | Chris Lorson | |
| SMA Mice; When, Where and What Type of Activity of SMN is Needed for Rescue | Arthur Burghes | |
| 10:30 AM | Break | |
| 10:45 AM | Antisense Correction of SMN2 Splicing in the CNS for SMA Therapy | Adrian Krainer |
| Screens for SMA Drugs and SMN Function | Elliot Androphy | |
| Induction of Murine SMN Protein by p38 and stat5 Activating Clinic Ready Compounds | Alex MacKenzie | |
| Screens for Modulators that Increase SMN2 Levels | Charles Cho | |
| 12:45 PM | Lunch | Quorum Room |
| 1:30 PM | Drug Development | Nikolai Naryshkin |
| Gene Therapy for SMA - An Update on Path towards the Clinic | Brian Kaspar | |
| CNS-Targeted Gene Therapy in SMA Mice | Marco Passini | |
| 3:00 PM | Final Discussion and Closing Remarks by Dr. Chris Lorson |
Researchers in Attendance
| Elliot Androphy, M.D. | University of Massachusetts Medical School |
| Arthur Burghes, Ph.D. | Ohio State University |
| Barrington Burnett, Ph.D. | National Institute of Neurological Disorders and Stroke |
| Charles Cho, Ph.D. | Genomics Institute of the Novartis Research Foundation |
| Christine DiDonato, Ph.D. | Northwestern University |
| Allison Ebert, Ph.D. | University of Wisconsin-Madison |
| Kenneth Fischbeck, M.D. | National Institute of Neurological Disorders and Stroke |
| Jill Heemskerk, Ph.D. | National Institute of Neurological Disorders and Stroke |
| Brian Kaspar, Ph.D. | The Research Institute at Nationwide Children's Hospital |
| Rashmi Kothary, Ph.D. | Ottawa Health Research Institute |
| Adrian Krainer, Ph.D. | Cold Spring Harbor Laboratory |
| Robert Leshner, M.D. | Children's National Medical Center |
| Christian Lorson, Ph.D. | University of Missouri-Columbia |
| Cathy Lutz, Ph.D. | The Jackson Laboratory |
| Alex MacKenzie, M.D., Ph.D. | Children's Hospital of Eastern Ontario Research Institute |
| George Mentis, Ph.D. | Columbia University Center for Motor Neuron Biology and Disease |
| Christine Mueller, D.O. | FDA, Office of Orphan Products Development |
| Nikolai Naryshkin, Ph.D. | PTC Therapeutics |
| Marco Passini, Ph.D. | Genzyme Corporation |
| Sergey Paushkin, M.D., Ph.D. | SMA Foundation |
| Livio Pellizzoni, Ph.D. | Columbia University Center for Motor Neuron Biology and Disease |
| John Porter, Ph.D. | National Institute of Neurological Disorders and Stroke |
| Michael Sendtner, M.D. | University of Wurzburg |
| Charlotte Sumner, M.D. | Johns Hopkins University School of Medicine |
| Kathy Swoboda, M.D. | University of Utah |
2010 Families and Friends Conference
General Information
Dates: April 26-27, 2010
Location: L'Enfant Plaza Hotel, Washington, DC
Overview: Conference components include lay-friendly science briefing with Q&A, "Thriving with SMA" panel discussion, one-on-one consultations with panelists, and visits to Capitol Hill.
| "Thanks for a great meeting as always and it is a pleasure working with you and your team. It is Team Work that will win All of our Battles for our SMA Families." - Bubba Sumerlin, SMA Angels Charity |
On April 26, 2010, as the researchers brought their meeting to a close, SMA patients, their families, and their friends began arriving and preparing for their portion of the Annual Conference.
That evening, FightSMA's Science Director, Dr. Chris Lorson, presented basic science information about the disease, a recap of the researcher meeting, and a "year in review" of SMA science, before taking questions from the audience and the more than 60 online participants of FightSMA's second live conference webcast. Following a break for dinner, the "Thriving with SMA" panel addressed issues related to the care and the daily life of SMA patients, including contractures and physical therapy, importance of the team approach to SMA care, nutrition, bone density, respiratory care equipment, and much more.
Following the panel, families had the opportunity to speak with the panelists one-on-one about their specific patients and experiences.
To see more photos from the conference, click here.
Schedule of Events
 Brian Weaver and Mary Schroth address the audience during the Thriving with SMA Panel |
 Physical Therapist Tina Duong speaks with parents during the one-on-one meetingsl |
Monday, April 26, 2010
| 5:00PM | Basic Science Update |
| 5:30PM | Basic Science Q&A |
| 6:00PM | Dinner |
| 6:30PM | Thriving with SMA Panel Presentation |
| 8:15PM | Break |
| 8:30PM | One-on-One Meetings with Panelists |
Tuesday, April 27, 2010
| 7:30AM | Breakfast |
| 8:00AM | Capitol Hill Briefing |
| 9:00AM | Meetings on Capitol Hill |
Visits to Capitol Hill
On Tuesday, April 27, 2010, SMA patients, families, friends, researchers, and conference corporate sponsors headed to Capitol Hill and visited over 70 Congressional offices on behalf of the SMA community and the SMA Treatment Acceleration Act. These advocates shared information about the disease and the SMA Treatment Acceleration Act with their Members of Congress and Senators and encouraged them to cosponsor this historic and paramount legislation. If you were unable to attend, but would still like to help, click here.
Thriving with SMA Panel
Thomas Crawford, M.D. - Pediatric Neurologist, Johns Hopkins University
Unfortunately, due to a last minute emergency, Dr. Crawford was unavailable for the panel
Dr. Crawford is an Associate Professor of Neurology and Pediatrics at Johns Hopkins in Baltimore, Maryland. He is co-director of the MDA clinic for Neuromuscular Disorders and Neurologist for the Ataxia Telangiectasia Clinical Center at Johns Hopkins. His practice involves general child neurology with a principal interest in caring for children with neuromuscular, neuromotor, and ataxic disorders. Parents of SMA patients have said that Dr. Crawford's "knowledge and dedication to trying to heal these children is quite evident."
Tina Duong, MPT - Physical Therapist, Cooperative International Neuromuscular Research Group
Ms. Duong is a research physical therapist who manages and coordinates the standardization and training for clinical evaluations of the network. She is a Clinical Evaluator Coordinator for the Cooperative International Neuromuscular Research Group, the clinical research arm of the Duchenne Muscular Dystrophy Research Center (DMDRC) and the Research Center for Genetic Medicine at the Children's National Medical Center (CNMC). Her research interests lie in the area of strength and outcome measures, with expertise in the areas of pediatrics and neuro-rehabilitation. In addition, she is a co-investigator in a preclinical study focusing on exercise and strength in different mouse strains with muscular dystrophy, as well as a clinical trial assessing strength measures in children with DMD. She is also the physical therapist liaison for the MDA clinics in Washington DC and Virginia.
Craig P. Eberson, M.D. - Pediatric Orthopedist, Hasbro Children's Hospital
Dr. Eberson is the Chief of Pediatric Orthopaedics at Hasbro Children's Hospital/Warren Alpert Medical School of Brown University in Providence, Rhode Island. His clinical responsibilities include directing the Pediatric Spine Service at Hasbro Children's Hospital, as well as serving as the Orthopedic Director of the Muscle Disorder Clinic, which cares for children from throughout Southern New England with neuromuscular disorders. Dr. Eberson is the author of numerous book chapters, scientific articles, and national presentations related to the orthopedic care of children and in 2000, he was the recipient of the Haffenreffer Award for Excellence in Orthopaedic Research. His clinical interests include the treatment of scoliosis and the treatment of spinal disorders via a minimally invasive approach.
Sarah Feasel, MEd, RD, CNSC - Specialty Nutrition Representative, Abbott Nutrition
Sarah Feasel is currently a Specialty Nutrition Representative for Abbott Nutrition. Prior to her position with Abbott she was the Clinical Nutrition Manager, Patient Services Manager and Spinal Cord Injury dietitian at National Rehabilitation Hospital in Washington DC. Sarah is a member of the American Dietetic Association and serves as a board member for the Maryland Dietetic Association. Sarah obtained her BS from The Ohio State University in Dietetics. She completed both her master's degree and dietetic internship at Columbia University, Teachers College in New York, NY. Sarah has been working toward a doctorate degree at the University of Maryland. Sarah is certified by the Commission on Dietetic Registration as a Registered Dietitian and a weight management specialist. She is also a Certified Nutrition Support Clinician.
Mary Schroth, M.D. - Pediatric Pulmonologist, University of Wisconsin
Dr. Schroth is a Pediatric Pulmonologist at the University of Wisconsin Children's Hospital and Clinics and is the Director of the Pediatric Pulmonary Center Training Grant. Building strong bonds with families around the country, she has been instrumental in the development and advancement of respiratory care for children with spinal muscular atrophy. According to Dr. Schroth, "the experience with kids with SMA Type II is that if they get good respiratory care early on, they will live a long life." In addition to treating SMA patients, Dr. Schroth has managed clinical trials and participated in the development of the Consensus Statement for Standard of Care in Spinal Muscular Atrophy. She also developed a pediatric multidisciplinary clinic for patients with neuromuscular disease, incorporating pediatric rehabilitation medicine and pediatric orthopedic surgery.
Kathy Swoboda, M.D. - Pediatric Neurologist, University of Utah
Unfortunately, due to a last minute emergency, Dr. Swoboda was unavailable for the panel, but Dr. Charlotte Sumner of Johns Hopkins University sat in for her.
Dr. Swoboda is an associate professor of Neurology and Pediatrics at the University of Utah. She directs the Pediatric Motor Disorders Research Program at the University of Utah School of Medicine in Salt Lake City, Utah. The primary focus of her research efforts over the past decade have been directed to better understand the pathophysiology and genotype-phenotype correlates underlying motor dysfunction in children with spinal muscular atrophy (SMA) and other motor disorders of childhood onset. Praised by many parents as "awesome!" and complimented on her bedside manner, Dr. Swoboda is a titan in the SMA community. She leads many SMA research studies and clinical trials, including one investigating early intervention in pre-symptomatic children. As Dr. Swoboda sees it, "if you can give them an edge, they can have a very productive life. I'm willing to take baby steps."
Brian Weaver, M.S., RRT-NPS, RPFT - Respiratory Therapist, University Hospital / UMDNJ, Newark, N.J.
Mr. Weaver is the Director of Respiratory Care Services at University of Medicine & Dentistry of New Jersey. He specializes in Perinatal/Pediatric respiratory care. He is published and has lectured on respiratory therapy for neuromuscular impaired patients including, Type I and Type II SMA. Mr. Weaver is always eager to educate parents around the world about options for their child's care and act as a resource when communicating with their doctors, sharing his knowledge of respiratory problems, airway clearance techniques, equipment, and protocols, including noninvasive ventilation alternatives. His dedication to helping SMA families is evident by how highly they speak of him.
Recorded Live at the Conference
| "Thank you so much for live streaming the conference. So wish we could have been there!" - Victoria Strong |
In 2009, FightSMA first broadcast the "Thriving with SMA" panel presentation over the internet. This was extremely popular, especially with families who were unable to travel to the conference due to the expense or illness. Families and caregivers representing 13 states and 4 countries logged in to participate in 2009. FightSMA offered this remote access again this year in hopes of reaching even more families in more states and more countries, making critical information available to families and the professionals who follow SMA patients.
Recordings of the webcast are available below.
Thank you to Nate Lee and Joe Higgs for helping make the webcast possible.
Corporate Sponsorship
PTC Therapeutics
ISIS Pharmaceuticals, Inc.
Shire Human Genetic Therapies, Inc.
PsychoGenics, Inc.
SMA Angels Charity
If you or your company are interested in sponsorship opportunities during The Good Fight, please contact Heather Lennon.