Hallmarks of Acid Sphingomyelinase Deficiency (ASMD) and Assessment of Disease Progression

Description
The first pre-recorded talk by Dr. Carlos Prada will provide an overview of the natural history of acid sphingomyelinase deficiency (ASMD, historically known as Niemann-Pick disease), including lung, spleen and liver manifestations, disease severity, leading causes of death and the importance of achieving diagnosis in ASMD. The second pre-recorded talk by Dr. Simon Jones will build on the overview of ASMD natural history provided by Dr. Prada and provide more detail on disease progression within organ systems. Clinically measurable features of disease progression will be described, including, for example, impaired lung diffusing capacity, splenomegaly, liver dysfunction, and other important ASMD manifestations. The presentations will be followed by a live question and answer session with the speakers.

Supported by Sanofi Genzyme.

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Presentations in this session

Welcome and Introductions
Simon Jones.
St. Mary’s Hospital, Manchester, United Kingdom. On-demand5mView biography

Understanding ASMD: Pathophysiology, disease burden and the importance of achieving diagnosis
Carlos E. Prada.
Cincinnati Children’s Hospital Medical Center, Cincinnati, OH, USA.

Clinical hallmarks of ASMD: Evaluation of disease severity and progression
Simon Jones.
St. Mary’s Hospital, Manchester, United Kingdom.

Panel discussion with Q&A

Faculty

Simon Jones
Simon Jones.
St. Mary’s Hospital, Manchester, United Kingdom. On-demand5mView biography

Simon Jones is a consultant in paediatric inherited metabolic diseases at the Willink Unit, St. Mary’s Hospital in Manchester, UK.

His major research interest is therapy for lysosomal storage diseases (LSDs). He received his medical training at the Edinburgh University Medical School, Edinburgh, UK, with a BSc in Neurosciences. He moved to London and trained in Paediatrics at Guy’s and St. Thomas’ Hospital, London, UK. He has been working at the Willink Biochemical Genetics Unit in Manchester, UK since September 2005. Since 2008, he has been a consultant in paediatric inherited metabolic diseases at the Willink Unit and is now the clinical lead for the LSD service. The Willink Unit is now part of the Manchester Centre for Genomic Medicine at St. Mary’s Hospital, Manchester, UK.

Dr. Jones has been actively involved in many phase I-IV international multicentre trials of enzyme replacement therapy for LSDs. He is currently the principal investigator in a number of LSD trials, and a senior lecturer at the University of Manchester. He is an author of over 100 peer-reviewed papers and four book chapters.

When not working, he watches Liverpool Football club and spends time with his family.


Carlos E. Prada
Carlos E. Prada.
Cincinnati Children’s Hospital Medical Center, Cincinnati, OH, USA.

Dr. Carlos Prada is a Geneticist practicing in Division of Human Genetics, Department of Pediatrics, Cincinnati Children’s Hospital Medical Center. Additionally, Dr. Prada serves as the Director, Newborn Screening Program, Cardiovascular Foundation of Colombia.