touchPANEL DISCUSSION Taking the next steps to improve patient outcomes in SMA: Early diagnosis and treatment
Learn more about the early diagnosis and treatment of spinal muscular atrophy (SMA) in this discussion between three internationally renowned experts.
For subtitles in Spanish and Brazilian Portuguese, please click [CC] on the video player below.
Dr Julie Parsons
University of Colorado School of Medicine, Aurora, CO, USA
CHAIR
Panelists:
Introduction
Chair Dr Julie Parsons introduces the expert panel and agenda for this discussion on the early diagnosis and treatment of SMA.
view bio and disclosures 1/4 Next ChapterWhat is the evidence for initiating treatment early in patients with SMA?
The panel outlines the rationale for initiating treatment early in patients with SMA and considers the clinical data for pre-symptomatic treatment with the available disease-modifying therapies.
view bio and disclosures 2/4 Next ChapterHow can SMA be diagnosed at the earliest opportunity?
The panel discusses the possible causes of diagnostic delay in SMA and how SMA can be diagnosed at the earliest opportunity.
view bio and disclosures 3/4 Next ChapterHow close are we to new biomarkers for SMA?
The panel highlights the possible role of biomarkers in SMA and provides an update on some of the most promising biomarkers being investigated.
view bio and disclosures 4/4 Take CME TestOverview & Learning Objectives
Overview
Learn more about the early diagnosis and treatment of spinal muscular atrophy (SMA) in this discussion between three internationally renowned experts.
This activity has been jointly provided by Oakstone and touchIME RESPIRATORY. Oakstone Publishing is accredited by the ACCME to provide continuing medical education to physicians.
Target audience
This activity has been designed to meet the educational needs of neurologists, paediatric neurologists, paediatricians, pulmonologists, neurology nurses and primary care physicians.
Disclosures
Oakstone Publishing has assessed conflict of interest with its faculty, authors, editors, and any individuals who were in a position to control the content of this CME activity. Any identified relevant conflicts of interest were resolved for fair balance and scientific objectivity of studies utilized in this activity. Oakstone Publishing’s planners, content reviewers, and editorial staff disclose no relevant commercial interests.
Faculty
Dr Julie Parsons discloses: Grant/research support from Avexis, Biogen, PTC Therapeutics and Scholar Rock. Consultant/advisory board for Avexis, Biogen, Genentech and Scholar Rock.
Prof. Eduardo Tizzano discloses: Grant/research support from Ionis/Biogen. Consultant/advisory board for Avexis, Biogen, Biologix, Cytokinetics, Novartis and Roche. He serves as a scientific/medical advisor for the following non-profit organizations: FAME Chile, Famiglie SMA Italy, Familias SMA Argentina, FundAME, SMA Europe and TREAT-NMD.
Prof. Francesco Muntoni discloses: Grant/research support from Biogen and Sarepta for investigator-initiated studies. Consultant/advisory board for Avexis, Biogen, Dyne Therapeutics, Novartis, Roche and Sarepta. Speakers Bureau for Avexis, Biogen, Roche and Sarepta.
Content Reviewer
Walter Murray Yarbrough, MD, FACP, has no financial interests/relationships or affiliations in relation to this activity.
Touch Medical Director
Hannah Fisher has no financial interests/relationships or affiliations in relation to this activity.
Requirements for Successful Completion
This activity has been planned and implemented in accordance with the accreditation requirements and policies of the Accreditation Council for Continuing Medical Education (ACCME) through the joint providership of Oakstone Publishing and touchIME. Oakstone Publishing is accredited by the ACCME to provide continuing medical education for physicians.
The European Union of Medical Specialists (UEMS) – European Accreditation Council for Continuing Medical Education (EACCME) has an agreement of mutual recognition of continuing medical education (CME) credit with the American Medical Association (AMA). European physicians interested in converting AMA PRA Category 1 Credit™ into European CME credit (ECMEC) should contact the UEMS (www.uems.eu).
Oakstone Publishing designates this enduring material for a maximum of 0.5 AMA PRA Category 1 Credits™. Physicians should claim only the credit commensurate with the extent of their participation in the activity.
In order to receive credit for this activity, participants must review and complete the post-test and evaluation form. Statements of credit are awarded upon successful completion of the post-test and evaluation form.
Date of original release: 21 January 2021. Date credits expire: 21 January 2022.
Learning Objectives
After watching this activity, participants should be better able to:
- Recall the outcomes associated with early treatment initiation for patients with SMA
- Discuss strategies for diagnosing SMA as early as possible
- Describe the latest research findings for biomarkers in SMA
Faculty & Disclosures
Dr Julie Parsons
University of Colorado School of Medicine, Aurora, CO, USA
Julie Parsons is Professor of Clinical Pediatrics and Neurology at the University of Colorado School of Medicine in Aurora, CO, USA. She holds the Haberfeld Family Endowed Chair in Pediatric Neuromuscular Disorders and is Co-director of the Neuromuscular Clinic at Children’s Hospital Colorado. read more
She was awarded her MD from the University of Colorado School of Medicine, followed by residencies in paediatrics and child neurology, as well as a fellowship in neuromuscular medicine at the University of Colorado. Dr Parsons has an enduring interest in medical education and served as the child neurology residency programme director for 9 years.
Dr Parsons’ clinical interests include a wide range of neuromuscular diseases, such as muscular dystrophies, spinal muscular atrophy and myotonic dystrophies. She is an active participant and principal investigator for many clinical trials.
Dr Julie Parsons discloses: Grant/research support from Avexis, Biogen, PTC Therapeutics and Scholar Rock. Consultant/advisory board for Avexis, Biogen, Genentech and Scholar Rock.
Prof. Eduardo Tizzano
Hospital Vall d’Hebrón, Barcelona, Spain
Eduardo Tizzano is Head of Pediatrics and Director of the Clinical and Molecular Genetics Department at the Hospital Vall d’Hebrón, Barcelona, Spain, where he is also coordinator of the rare diseases programme and orphan drugs. He is also head of the Genetic Medicine Group at Vall d’Hebrón Institut de Recerca (VHIR). read more
His main areas of research include the characterization of spinal muscular atrophy (SMA) during human development, genotype–phenotype correlations and the validation of biological markers. He is very active in academic and research activities at national and international levels, collaborating with different neuromuscular and genetic centres, and has close links to regional and national patient support groups. He was awarded the Queen Sophia Prize for his cumulative clinical, research and social work in SMA, and coordinates the SMA Registry, Biobank and clinical research to define therapeutic targets.
Prof. Eduardo Tizzano discloses: Grant/research support from Ionis/Biogen. Consultant/advisory board for Avexis, Biogen, Biologix, Cytokinetics, Novartis and Roche. He serves as a scientific/medical advisor for the following non-profit organizations: FAME Chile, Famiglie SMA Italy, Familias SMA Argentina, FundAME, SMA Europe and TREAT-NMD.
Prof. Francesco Muntoni
UCL Institute of Child Health and Great Ormond Street Hospital for Children, London, UK
Francesco Muntoni is Professor of Paediatric Neurology and Honorary Consultant at the UCL Institute of Child Health (ICH) and Great Ormond Street Hospital (GOSH) for Children, London, UK. He is also Head of the Dubowitz Neuromuscular Centre. read more
He is Theme Lead in novel therapies for childhood diseases for the NIHR Biomedical Research Centre at GOSH/ICH and Developmental Neurosciences Theme Lead at the UCL ICH.
Prof. Muntoni has authored more than 400 peer-reviewed manuscripts. His main areas of research have been focused on the genetic heterogeneity of neuromuscular disorders and on translational research aspects related to neuromuscular disorders.
Prof. Francesco Muntoni discloses: Grant/research support from Biogen and Sarepta for investigator-initiated studies. Consultant/advisory board for Avexis, Biogen, Dyne Therapeutics, Novartis, Roche and Sarepta. Speakers Bureau for Avexis, Biogen, Roche and Sarepta.
