Newborn screening and treatment of Spinal Muscular Atrophy: insights from Brazil

Topic: Newborn screening and treatment of Spinal Muscular Atrophy: insights from Brazil
Talk By: Dr Maria Luiza Benevides (Speaker), Dr Martin Hyland (Speaker), Dr Renata Paolilo (Moderator), Prof Jo Wilmshurst (Panelist), Prof. Juliana Gurgel (Expert Faculty)
When: Saturday, September 21, 2024 at 9:00 - 10:00 AM Eastern Time ( US / Canada )

Dr Maria Luiza Benevides, MD, Ph.D. Child Neurology medical residency at University of Campinas (Unicamp), Campinas - SP (2021-2023), and Neurology medical residency at Hospital Governador Celso Ramos (HGCR), Florianópolis - SC, Brazil (2018-2021). PhD degree in Translational Neuroscience, at Institute of Translational Neuroscience of Universidade Federal do Rio de Janeiro (2018-2020). Child Neurologist of Neuropediatrics Brazil, an interdisciplinary service in Florianópolis - SC, Brazil.

Dr Martin Hyland, MD graduated from University of Buenos Aires (UBA) in Argentina. He finished his Pediatrics residency at Hospital Británico de Buenos Aires/ Universidad Católica Argentina (UCA) and Pediatric Neurology residency at Hospital Italiano de Buenos Aires (HIBA)/ Instituto Universitario del Hospital Italiano de Buenos Aires (IUHIBA). He also completed his role of Chief Resident and Fellowship in Child Neuromuscular Diseases and Intraoperative Neurophysiological Monitoring at HIBA, where he currently works as associate physician in the Pediatric Neurology Service. He is also a faculty member at UBA and IUHIBA and member of Cochrane International. He is currently finishing his Masters in Education for Health Professions.

Prof. Jo Wilmshurst, MD, Ph.D. Pediatrics, Pediatric Neurologist. She is the head of the Pediatric Neurology service for Red Cross War Memorial Children’s Hospital. This is a teaching hospital affiliated to the University of Cape Town. It is the largest children’s hospital in sub-Saharan Africa which cares for children from across the region. She is involved in clinical service provision for children with neurological complications, inclusive of a complex epilepsy service (encompassing epilepsy surgery) and have been involved in research studies in these areas. She have been PI and co-investigator on a number of University and MRC grants. She have successfully administered these projects (e.g. staffing, research protections, budget), collaborated with other researchers, and produced peer-reviewed publications from each project. She have headed and contributed to a number of systematic reviews through her work for the International League Against Epilepsy (ILAE). She is the chair of the African Commission for the ILAE (2021-2025) and immediate past-president of the International Child Neurology Association (2018-2022). Her areas of research interest include epilepsy, neuromuscular diseases, neurocutaneous disorders and neuroinfections. She heads the major training center for child neurology in sub-Saharan Africa, she have, and is, supervising postgraduate students (since 2009 masters n=18 completed, with n=6 currently completing) as well as three PhD students (1 completed 2023). In addition to her position as head of pediatric neurology and she is director of a training program for doctors from Africa, the African Paediatric Fellowship Programme. This training program, initiated by the University of Cape, aims at developing skills in pediatric disciplines for doctors from across Africa. The program is focused at skills retention through relevant training in Africa by Africans to develop leaders in child health. To date almost 200 doctors have trained through the program from 16 African countries with over 90% 5 year retention rates. Working within and directing the APFP for the last 16 years has enabled her to gain further insight into optimal training models and how important it is to structure, capacitate, monitor and evaluate curricula.

Dr Renata Paolilo, MD, Ph.D. Pediatrics, Pediatric Neurology, Ph.D., and current post-doctorate student from São Paulo University. Pediatric Neurologist at Hospital das Clínicas, University of São Paulo, São Paulo, Brazil. Pediatric Neurologist at Albert Einstein Hospital, São Paulo, Brazil.

Brief info about expert faculty:

Prof. Juliana Gurgel, MD, Ph.D. is a Child Neurologist and Full Professor at Universidade Federal de Minas Gerais (UFMG), in Brazil. She specialized in Neuromuscular Disorders and Mitochondria Diseases. She completed her neuromuscular fellow and PhD at Universidade de São Paulo in 2001 (USP). Subsequently, she held two post-doctoral fellows in Mitochondrial Diseases at Columbia University, in 2005 ( Prof. Salvatore Di Mauro) and 2013 (Prof. Michio Hirano). In 2002 she became Associate Professor at the Universidade Federal de Minas Gerais and in 2007 she was responsible for the implementation and accreditation of the residency in Pediatric Neurology at the Hospital das Clínicas of UFMG, having been its coordinator until 2023, with the training of more than 20 residents in Child Neurology. She has experience in the areas of Pediatric Neurology and Genetics with research on neurogenetics, neuromuscular and mitochondrial diseases. Since 2009 she has supervised more than 20 post-graduate students and in 2023 she became the vice-head advisor of the postgraduate program in Child and Adolescent Health Sciences at UFMG. Furthermore, she has been a PI in different international clinical trials in the field of neuromuscular disorders, with more than 80 papers published. Currently, she is The President of the Brazilian Child Neurology Society (SBNI), member of the Committee: “Myology Development across the World” in the World Muscle Society and member of the ICNA Executive Board (2023-2025).

4-5 Lines about the topic:

Spinal Muscular Atrophy (SMA) is a severe genetic disorder characterized by progressive muscle weakness and atrophy due to the loss of motor neurons. Early diagnosis and intervention are crucial in improving the prognosis and quality of life for affected individuals. This session aims to provide an in-depth look at the implementation and impact of newborn screening for SMA, with a focus on insights from a leading Brazilian medical center.
The session will begin with the presentation of clinical cases, offering real-world examples of the challenges and successes in diagnosing and treating SMA in newborns. The lecture will delve into the latest treatment modalities for SMA, including gene therapy, SMN2 splicing modifiers, and other emerging therapies.

3-4 learning objectives from the session:
• Understand the importance of newborn screening in the early detection of Spinal Muscular Atrophy (SMA).
• Gain insights into the latest treatment options, including gene therapy and SMN2 splicing modifiers.
• Learn from real-world examples and outcomes from a leading Brazilian medical center.
• Recognize how early intervention can significantly improve patient prognosis and quality of life.