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Sunday 21 November 2021

Understanding ASMD from our experiences in Gaucher disease: from the science to the clinical practice

 

Date/Time: Sunday 21 November 2021, 13.30 – 14.30 AEDT and on-demand

No cost to attend with Congress registration.

Presented by Sanofi Genzyme

Speakers:

Prof Pramod Mistry
MD, PhD, FRCP
Dr Michel Tchan
BMedSc, MBBS, PhD, FRACP
Prof Maurizio Scarpa
MD, PhD
Speaker Information
Prof Pramod Mistry, MD, PhD, FRCP Dr Michel Tchan, BMedSc, MBBS, PhD, FRACP Prof Maurizio Scarpa,  MD, PhD

Dr. Mistry is Professor of Medicine (Digestive Diseases) and of Pediatrics (Gastroenterology), Professor of Cellular & Molecular Physiology, Director of the Yale Lysosomal Disease Center and Gaucher Disease Treatment Center at Yale School of Medicine, and Attending Physician at Klatskin Liver Service and Liver Transplant Service, Yale New Haven Hospital.

 

 

 

 

Dr. Tchan is a clinical and metabolic geneticist looking after adults with genetic disorders and inborn errors of metabolism. He is currently the Head of Department, Genetic Medicine at Westmead Hospital in Sydney, and a senior lecturer at the University of Sydney.

 

Maurizio Scarpa, MD PhD, paediatrician, is the Director of the Regional Coordinating Centre for Rare Diseases at the University Hospital of Udine, Italy. He is Professor of Paediatrics at the Dept. for the Woman and Child Health, University of Padova, Italy, and the Co-Founder of the Brains For Brain Foundation, together with Prof. David Begley, Kings College of London, London, UK

 

Click here for symposium synopsis

Patients with the inherited and rare lysosomal storage disease, acid sphingomyelinase deficiency (ASMD), historically known as Niemann-Pick disease type A, A/B and B, are often under-recognised and under-diagnosed due to the rare nature of the condition. There is considerable overlap in the major clinical manifestations of ASMD with another lysosomal storage disease, Gaucher disease (GD); however, ASMD also has distinct clinical manifestations separate to those of GD. Understanding the pathophysiology, clinical manifestations and diagnostic challenges of ASMD and GD is vital to address the unmet need of this patient population.

This symposium will present three talks on this topic: Professor Pramod Mistry will first discuss the role of inflammation in GD and how this can inform our knowledge of inflammatory processes in ASMD. He will explore what is currently known about inflammation in ASMD, as well as potential sources of this inflammation. Dr Michel Tchan will provide an overview of the clinical manifestations of ASMD and differential diagnostic approach used in the clinic, and how this compares with GD and other lysosomal storage diseases. Dr Tchan will discuss how ASMD represents a wide clinical spectrum of disease, and highlight manifestations such as hepatomegaly and splenomegaly, which are present in most ASMD patients1. Finally, Professor Maurizio Scarpa will present the known pulmonary manifestations in ASMD and highlight why these are important to recognise as a key feature of ASMD. Interstitial lung disease is present in >80% of patients with ASMD type B1 and respiratory failure is one of the leading causes of death in patients with ASMD type B and A/B2, and as such, understanding how to manage pulmonary manifestations in patients with ASMD is of particular importance. 

Newborn Screening for Spinal Muscular Atrophy & Recommended Uniform Screening Panel in the US: from SCID to SMA, and beyond

Date/Time: Sunday 21 November 2021, 13.30 – 14.30 AEDT and on-demand

No cost to attend with Congress registration.

Presented by Perkin Elmer

Speakers:

Veronica Wiley Mei Baker
Director NSW Newborn Screening Programme MD, FACMG, is a professor in the Department of Pediatrics, Co-Director of the Newborn Screening Laboratory at the Wisconsin State Laboratory of Hygiene, and Population Genomics Program Leader at the Center for Human Genomics and Precision Medicine, University of Wisconsin School of Medicine and Public Health.

 

Speaker Information

Veronica Wiley
Director/ Principal Scientist
NSW Newborn Screening Programme
The Children’s Hospital at Westmead
Sydney Children’s Hospital Network

 

 

Mei Baker
MD, FACMG, is a professor in the Department of Pediatrics, Co-Director of the Newborn Screening Laboratory at the Wisconsin State Laboratory of Hygiene, and Population Genomics Program Leader at the Center for Human Genomics and Precision Medicine, University of Wisconsin School of Medicine and Public Health.

Clinical Associate Professor Veronica Wiley is the Director of the NSW Newborn Screening Programme, Australia. She is a clinical scientist with over 40 years of experience in paediatric biochemistry especially screening, detection, diagnosis and monitoring of inborn errors using techniques including immunoassay, mass spectrometry, enzyme assays and various DNA variant analyses.

A/Prof Wiley is President of the Australasian Society for Inborn Errors of Metabolism and past-President of the International Society for Neonatal Screening. She is a member of various international, national, and state committees developing aspects of newborn bloodspot screening for NSW, for Australia and for international use.

She is committed to education and training – supervising students and providing lectures, workshops and hands on training both in NSW and overseas. Due to her depth of knowledge in all aspects of newborn bloodspot screening she is requested as an invited speaker on a large number of topics associated with newborn screening.

 

 

 

 

 

Mei Baker, MD, FACMG, is a professor in the Department of Pediatrics, Co-Director of the Newborn Screening Laboratory at the Wisconsin State Laboratory of Hygiene, and Population Genomics Program Leader at the Center for Human Genomics and Precision Medicine, University of Wisconsin School of Medicine and Public Health.

Dr. Baker practiced medicine before being trained in both biochemical and molecular genetics, and obtained clinical biochemical genetics certification from the American Board of Medical Genetics and Genomics in 2009. She has more than 15 years experience in routine newborn screening (NBS) with specific interest in, and a successful track record of, applying emerging technologies to implement new screening tests for disorders and to improve ongoing screening tests. She oversees NBS testing involving molecular technologies, and is responsible for NBS-testing-associated policies and regulations.  She is one of the leading scientists who made Wisconsin the first state in the nation and the world to implement universal NBS for severe combined immunodeficiency (SCID) in 2008. She has developed and implemented cystic fibrosis NBS using next generation sequencing technology in the Wisconsin NBS program since April 2016. Dr. Baker’s contribution to science has been widely recognized, as evidenced by receiving the Harry Hannon Laboratory Improvement Award in Newborn Screening at the Association of Public Health Laboratories (AHPL) 2014 Newborn Screening and Genetic Testing Symposium. Her work was described as work that “profoundly impacted and improved the current practice of newborn screening locally, regionally, nationally and internationally.”

Dr. Baker is currently a member of the Advisory Committee on Heritable Disorders in Newborns and Children, and a Co-Chair of the Newborn Screening Technical Assistance and Evaluation Program (New STEPs) Steering Committee.  She is a council member of the International Society for Neonatal Screening (ISNS).

Click here for symposium synopsis

Newborn Screening for Spinal Muscular Atrophy – Veronica Wiley

Spinal muscular atrophy (SMA) is a life limiting autosomal recessive neurodegenerative disorder. It is caused by defects in the SMN1 gene with symptoms modulated by the copy number of the SMN2 gene. Motor neuron degeneration can be halted but not recovered by several promising treatment options. A pilot newborn screening program was commenced in NSW, Australia to detect babies with SMA. The pilot aimed to determine: the screening pathway; parent opinion on screening; incidence; the impact of NBS on health outcomes; and the economic value of screening. All babies born since 1st August 2018 (>300,000 babies) have been screened. Twenty five babies were proven to have SMA, the median age at diagnosis was 15 days and at treatment 25 days. All treated cases have achieved the appropriate developmental milestones. The screening pathway including pre-analytical, analytical and post analytical components has proven beneficial for babies with SMA.

Recommended Uniform Screening Panel in the US: from SCID to SMA, and beyond – Mei Baker

The recommended uniform screening panel (RUSP) is a list of disorders that the Secretary of the Department of Health and Human Services (HHS) recommends for states to screen as part of their state universal newborn screening (NBS) programs.  Severe combined immunodeficiency (SCID) was the first disorder to be added to the RUSP via the nomination and acceptance process, and spinal muscular atrophy (SMA) is the latest. This presentation describes the Wisconsin experience in statewide implementation of NBS for SCID and SMA with an emphasis on special considerations and unique approaches, such as using multiple of the medium to report risk for SCID, and incorporating SMN2 copy numbers as a part of the SMA screening protocol.  This presentation also summarizes the current status of NBS for SCID and SMA in the United States.  Furthermore, this presentation briefly addresses some RUSP candidate conditions.

Monday 22 November 2021

Rare neurometabolic disorders: A focus on AADC deficiency

 

Date/Time: Monday 22 November 2021, 1700 – 1800 AEDT

No cost to attend with Congress registration.

Presented by PTC Therapeutics

Please note this symposium is only available to Health Care Practitioners.

Speakers:

Dr. Wuh-Liang Hwu

Department of Paediatrics,
National Taiwan University Hospital,
Taipei, Taiwan

Prof. Thomas Opladen

Department of General Paediatrics, University Children’s Hospital,
Heidelberg, Germany

Prof. Agathe Roubertie

Department of Paediatric Neurology,
Hôpital Gui de Chauliac,
Montpellier, France

 

Click here for symposium synopsis

This PTC Therapeutics-sponsored virtual symposium will cover key aspects of aromatic l-amino acid decarboxylase (AADC) deficiency, a rare inherited neurometabolic disorder. The symposium will highlight the signs and symptoms of this rare disease to aid earlier recognition in clinical practice, emphasise key steps to diagnosis through a real-life clinical case study, and outline current best practice management options and gene therapy treatments in development. An international faculty of experts will guide the attendees through the sessions: after an introductory note from Dr. Wuh-Liang Hwu (Taiwan), Prof. Thomas Opladen (Germany) will provide an overview on the differential diagnosis of neurometabolic disorders, emphasising the key signs and symptoms of AADC deficiency in clinical practice. Following this talk, Prof. Agathe Roubertie (France) will present an AADC deficiency clinical case study, outlining the red flags to raise suspicion of AADC deficiency and core tests to help reach an accurate diagnosis. Dr. Hwu will then summarise currently available management options for patients with AADC deficiency and provide a future outlook on gene therapy treatments in development, including an overview of clinical studies. The symposium will include an interactive Q&A session in which the expert faculty will address live questions from the attendees.

Pursuing More Effective Diagnosis and Treatment of Pompe Disease: Applying New Advances into Practice

 

Date/Time: Monday 22 November 2021, 1700 – 1800 AEDT and on-demand

No cost to attend with Congress registration.

Presented by Sanofi

Speakers:

Priya S. Kishnani, MD David Kronn, MD, FACMG Kenneth I. Berger, MD
C.L. and Su Chen Professor of Pediatrics
Medical Director, YT and Alice Chen Pediatrics Genetics and Genomics Center
Division Chief, Medical Genetics
Professor of Molecular Genetics and Microbiology
Duke University Medical Center
Durham, NC

Director, Advanced Medical Genetics, APS
Section Chief, Medical Genetics
Westchester Medical Center
Associate Professor of Pathology and Pediatrics,
New York Medical College
Valhalla, NY

Professor of Medicine, Neuroscience and Physiology
New York University School of Medicine
New York, NY

 

Click here for symposium synopsis

This dynamic CME-accredited symposium will examine the mechanism of action of next-generation enzyme replacement therapy (ERT) with video animations and discuss their clinical utility in the treatment of Pompe disease (PD), as well as present strategies to facilitate timely and accurate diagnosis. Finally, this activity will use case-based learning to explore evolving best practices for safe and effective, individualized treatment initiation; ERT selection and switching; and ongoing management.  

Pompe disease is a rare, inherited lysosomal storage disorder caused by aberrations in the glucosidase alpha (GAA) gene that lead to deficient GAA activity and a toxic buildup of glycogen in muscle and other tissues. It is classified as infantile-onset PD (IOPD) or late-onset PD (LOPD). Without ERT, IOPD is fatal by age 2 and LOPD is associated with varying degrees of morbidity and mortality. Early diagnosis is critical to ensure timely initiation of ERT and to improve long-term prognosis. Ensuring health care providers have the knowledge and skills to support prompt diagnosis and effective treatment initiation, particularly in the absence of universal newborn screening, is critical to improving outcomes, particularly in an era of advancing treatment options with better uptake in skeletal muscles.    

This program is jointly provided by AKH Inc., Advancing Knowledge in Healthcare and Catalyst Medical Education, LLC.

This activity is supported by an educational grant from Sanofi Genzyme.

Expediting diagnosis in rare metabolic diseases – examples from neuronal ceroid lipofuscinosis type 2 (CLN2) and mucopolysaccharidosis (MPS)

 

Date/Time: Monday 22 November 2021, 13.30 – 14.30 AEDT and on-demand

No cost to attend with Congress registration.

Symposium sponsored and funded by BioMarin.

Please note that this symposium is strictly for healthcare professionals only. It is not intended for US healthcare professionals.

Speaker: 

(Chair) Dr Carolina Fischinger Dr D. Scott Thomas Demarest Dr Cathleen Louise Raggio

Medical Geneticist, Hospital de Clinicas de Porto Alegre, RS, Brazil

 

Paediatric Neurologist, Assistant Professor, the Children’s Hospital Colorado, USA

Orthopedic Director, KO and AC Greenberg Center for Skeletal Dysplasias, Hospital for Special Surgery, NY, USA

Click here for symposium synopsis

Delayed diagnosis is a common problem for patients with ceroid lipofuscinosis type 2 (CLN2), mucopolysaccharidosis (MPS) and other rare diseases, due to the challenges of differential diagnosis in diseases with similar presentation and physicians’ lack of familiarity with very rare conditions. Such delays may last for years while disease progression continues without explanation. This symposium will describe how the diagnostic process for rare genetic disorders has evolved in recent years, illustrated with CLN2 and MPS patient cases. How to identify possible signs and symptoms, as well as current options and approaches to diagnosis will be explored. Accurate early diagnosis is the first step towards personalized disease management.

Please note that this symposium is strictly for healthcare professionals only.

 

Diagnose. Understand. Treat.
A Glance at a Global NPC Cohort

Date/Time: Monday 22 November 2021, 13.30 – 14.30 AEDT and on-demand

No cost to attend with Congress registration.

Presented by Centogene

Speaker: 

Prof. Peter Bauer M.D., CENTOGENE Chief Genomic Officer

 

Click here for symposium synopsis

DIAGNOSE

  • Challenges of genetic diagnostics
    – Heterogeneous and non-specific nature of the clinical signs and symptoms of Niemann-Pick type C (NPC)
    – Hidden causes of NPC

UNDERSTAND

  • Diving deeper into the data to truly understand NPC (CENTOGENE study and reflection on the data that led to the diagnosis of 602 patients)

TREAT

  • Going beyond diagnostics
    – Leveraging diagnostic insights, research, and Bio/Databank to accelerate treatment options for NPC patients

Translating theory into practice in Fabry disease: evidence from clinical trials to real-world

 

Date/Time: Monday 22 November 2021, 1700 – 1800 AEDT and on-demand

No cost to attend with Congress registration.

Presented by Amicus Therapeutics

Please note this symposium is only available to non – United States of America Health Care Practitioners.

Speakers:

Dr Michel Tchan Professor Daniel Bichet Professor Roser Torra
Australia Canada Spain

 

 

Click here for symposium synopsis

This unique satellite symposium, sponsored by Amicus Therapeutics, will bring together experts from around the world to review evidence from clinical trials and the real world in Fabry disease. Dr Michel Tchan (Australia) will open the symposium by presenting an introduction to the multisystemic nature of Fabry disease. Following this, Professor Daniel Bichet (Canada) and Professor Roser Torra (Spain) will provide their insights on multisystemic treatment efficacy, with a focus on long-term renal evidence and experience from the real world respectively. The symposium will close with a live Q&A chaired by Dr Tchan, alongside other symposium faculty. The panel will provide perspectives on the insights shared during the session and audience members will have the chance to ask their questions to the speakers.
This meeting is sponsored by Amicus and is open only to healthcare professionals based outside of the US. This meeting is sponsored by Amicus and Amicus’ product will be discussed at this meeting. UK and Australian prescribing information for migalastat is available at this meeting. Prescribing information may vary depending on local approval in each country. Therefore, before prescribing any product, always refer to local materials such as the prescribing information and/or the Summary of Product Characteristics (SmPC).

20 years of the Fabry Outcome Survey: understanding the importance of organ protection in patients with Fabry disease

 

Date/Time: Monday 22 November 2021, 1700 – 1800 AEDT and on-demand

No cost to attend with Congress registration.

Presented by Takeda

This meeting is intended for healthcare professionals only and is initiated, organized and funded by Takeda.

Speakers:

Prof. Kathy Nicholls Prof. Aleš Linhart Prof. Christoph Kampmann Ms. Mary Pavlou
Royal Melbourne Hospital, Victoria, Australia (Chair) Charles University and General University Hospital, Prague, Czech Republic University Medical Centre, University of Mainz, Mainz, Germany Fabry International Network

 

Click here for symposium synopsis

This Takeda-sponsored symposium, chaired by Prof. Kathy Nicholls, will take a comprehensive look at treatment of Fabry disease (FD) with enzyme replacement therapies (ERTs) over the past 20 years. During three insightful presentations from leading experts, we will explore the cardiovascular and renal complications associated with FD and what 20 years of data have taught us about managing these complications. We will also take an in-depth look at the long-term effects of treatment and the impact on patients’ lives, including insights from real-life patient stories.

The symposium will finish with a panel discussion to explore challenges to identifying, and best practice for managing cardiovascular and renal complications, and overall quality of life as well as the future for patients with FD receiving long-term treatment with ERT. There will also be an opportunity for audience questions to be answered by the expert faculty, including a patient advocate.

This meeting is intended for healthcare professionals only and is initiated, organized and funded by Takeda.

Copyright 2021 Takeda Pharmaceutical Company Limited. All rights reserved.
Takeda and the Takeda Logo are registered trademarks of Takeda Pharmaceutical Company Limited.
VV-MEDMAT-52293 Date of preparation: September 2021

Tuesday 23 November 2021

Glucosylceramide Synthase Inhibition and Its Critical Role in the Glycosphingolipid Hub of Lysosomal Storage Disorders

 

Date/Time: Tuesday 23 November 2021, 16.30 – 17.30 AEDT and on-demand

No cost to attend with Congress registration.

Presented by Sanofi Genzyme

Speakers:

(Chair) Associate Professor Carolyn Ellaway
University of Sydney, Program Chair
Professor Tim Cox
University of Cambridge
Professor Hans Aerts
University of Leiden

 

Speaker Information

Associate Professor Carolyn Ellaway – Program Chair

University of Sydney

Professor Tim Cox

University of Cambridge

Professor Hans Aerts

University of Leiden

Carolyn Ellaway is a Clinical Associate Professor at the University of Sydney and has been working as a Pediatrician and Clinical Geneticist at the Genetic Metabolic Disorders Service, Children’s Hospital, Westmead, Australia, since 2001 and Sydney Children’s Hospital, Randwick, since 2014. She has held leadership roles with the Genetic Metabolic Disorders Service, the Western Sydney Genetics Program, the Human Genetics Society of Australasia and is on the local organizing committee for ICIEM 2021, Sydney. In her clinical role, she has been responsible for the care of children with a wide range of genetic metabolic disorders, this has included the multidisciplinary treatment of patients with lysosomal storage disorders and enzyme replacement therapy (ERT) delivery. Timothy Cox MD was elected Professor in Medicine at the University of Cambridge in 1988 and Honorary Consultant Physician at Addenbrooke’s hospital, Cambridge UK.  After clinical and scientific training in London, Oxford and the Massachusetts Institute of Technology, USA he was Senior Lecturer in Haematology and Medicine at the Royal Postgraduate Medical School, Hammersmith (now Imperial College London). In Cambridge, he founded and directed the UK’s first MB/PhD programme, currently in its 33rd year. Apart from clinical duties, he directs research into the pathogenesis, biochemical genetics and molecular therapeutics of inborn errors of metabolism; he is an investigator in therapeutic trials for Gaucher disease and other sphingolipid diseases. Tim Cox joined Prof Hans Aerts as founding Vice-Chair of the European Working Group in Gaucher disease in 1993 and in 1997 established the first UK Specialist Centre for Management of Gaucher disease – 10 years later, extended to the National Specialist service for Lysosomal diseases.  Cox is an editor of the Oxford Textbook of Medicine, now in its sixth edition (Oxford University Press 2020) and is currently joint Chair of the international Gordon Research Conference in Lysosomal diseases. Hans Aerts chairs the Department of Medical Biochemistry at Leiden University. Earlier he chaired the Department of Biochemistry at the Academic Medical Center in Amsterdam (2000-2014). His research focuses on glycosphingolipids in health and disease with special attention for inherited lysosomal storage disorders like Gaucher disease, as well as neurodegeneration and the Metabolic Syndrome. Trained in biochemistry at the University of Amsterdam (Prof. Joseph Tager) and the National Institutes of Health in Bethesda, USA, he completed his PhD thesis Biochemical studies on glucocerebrosidase in relation to Gaucher disease with honours in 1988. He was involved in the first application of enzyme replacement therapy and substrate reduction therapy of type 1 Gaucher disease in Europe as well as the discovery of now widely used biomarkers. He has been (co)promotor of 44 completed PhD thesis works and published over 400 peer-reviewed papers (H-index: 94, Google Scholar).

 

​​

Click here for symposium synopsis

This symposium will explore the shared role of the glucosylceramide synthase (GCS) inhibition in lysosomal storage disorders, including Gaucher Disease, Fabry Disease, and GM2 Gangliosidosis (Tay-Sachs and Sandhoff Disease) to build understanding of the commonalities among these diseases, along with clinical implications and therapeutic considerations. Specifically, the symposium objectives will be to:​

  • Address the following questions: What is the lysosome, why is it important, and which lysosomal storage disorders involve a common pathway?​
  • Discuss commonalities among the Fabry, Gaucher, and GM2, with focus on the role of glycosphingolipid metabolism as a central hub these diseases.​
  • Discuss the biology of GCS and its role in these diseases and describe clinical implications and potential therapeutic approaches to inhibiting GSC.

 

 

Targeting Toxic Galactitol for the Treatment of Classic Galactosemia

 

Date/Time: Tuesday 23 November 2021, 13.30 – 14.30  AEDT and on-demand

No cost to attend with Congress registration.

Presented by Applied Therapeutics

Speakers:

Shoshana Shendelman, PhD Laura Saltonstall, MD Riccardo Perfetti, MD, PhD

CEO & Founder,
Applied Therapeutics
Program Chair

VP, Medical Affairs,
Applied Therapeutics
Speaker 1

Chief Medical Officer, Applied Therapeutics
Speaker 2

 

Click here for symposium synopsis

Classic Galactosemia is a rare, autosomal recessive disease where galactose is not metabolized properly due to severe deficiency or absence of the GALT enzyme (galactose-1-phosphate uridyl transferase). At abnormally high levels, galactose becomes an aberrant substrate for the enzyme aldose reductase, resulting in conversion to an abnormal and toxic metabolite, galactitol. Timely institution of a galactose-restricted diet can prevent or resolve acute symptoms in newborns with Classic Galactosemia, and newborn screening and dietary implementation has significantly decreased fatalities. However, despite early dietary intervention, children continue to develop significant morbidities in speech, cognition, behaviour, and motor function, which have been shown to progressively worsen with age, as well as cataracts and primary ovarian insufficiency in females. The Applied Therapeutics Corporate Symposium will review the Mechanism of Disease of Classic Galactosemia as the development program of AT-007 (ACTION-Galactosemia), an investigational agent targeting toxic galactitol, the known biomarker of disease activity.  We will review key results from the adult study as well as study design and baseline characteristics from the ongoing study in children ages 2-17, ACTION-Kids.

A tale of two Phe states: PKU neurocognitive burden and the Palynziq experience

 

 Date/Time: Tuesday 23 November 2021, 13.30 – 14.30  AEDT and on-demand

No cost to attend with Congress registration.

Symposium sponsored and funded by BioMarin

Please note that this symposium is strictly for healthcare professionals only.

This presentation is based on the EMA and TGA Palynziq labels. It is not intended for a US HCP audience.

 

Speakers:

Mark Walterfang

Professor of Psychiatry
Royal Melbourne Hospital
Melbourne, Australia

 

Cary Harding

Professor of Molecular and Medical Genetics
Oregon Health & Science University
Portland, OR, USA

 

 

Speaker Information

Mark Walterfang

Professor of Psychiatry
Royal Melbourne Hospital
Melbourne, Australia

Cary Harding

Professor of Molecular and Medical Genetics
Oregon Health & Science University
Portland, OR, USA

 

 Professor Walterfang is a Consultant Psychiatrist and Neuropsychiatrist from Melbourne Australia, whose main research interests include (neuro)psychiatry, schizophrenia, neurodegenerative disorders, white matter disease, neurometabolic disorders, and atypical dementias. He has also been involved in the development of clinical tools for use in psychiatric patients in the areas of cognition and behavioral observation.

 

Dr. Harding is Professor of Molecular and Medical Genetics at Oregon Health & Science University, where he is an attending physician and Medical Director of the Biochemical Genetics Lab. Dr. Harding is a fellow of multiple organizations, including the American College of Medical Genetics and Genomics and the Society for Inherited Metabolic Disorders, as well as the chair of the Scientific Advisory Board for the National PKU Alliance.
Click here for symposium synopsis

Phenylketonuria (PKU) is characterised by a deficiency in phenylalanine hydroxylase (PAH) activity resulting in an accumulation of excess phenylalanine (Phe) in the blood and brain. If not adequately controlled, Phe becomes toxic to the brain and disrupts normal neurophysiology. The effects of high Phe are felt throughout a patient’s life and lowering levels is the key to optimising care. Professor Mark Walterfang will firstly describe the cognitive, psychiatric and MRI changes in adults with improved Phe control. This will be subsequently followed by Professor Cary Harding, who will share his clinical experience when aiming for physiologic Phe levels.

Advancing the patient experience during ex vivo lentiviral gene therapy for lysosomal disorders

 

Date/Time: Tuesday 23 November 2021, 13.30 – 14.30 AEDT and on-demand

No cost to attend with Congress registration.

Presented by Avrobio

Please note this symposium is only available to Health Care Practitioners.

Speakers:

Dr. Robert Wynn Dr. Chris Mason Dr. Mark Thomas Dr. Kathleen Nicholls Dr. Ben Carnley
Royal Manchester Children’s Hospital, Manchester, UK AVROBIO, Cambridge MA, USA Royal Perth Hospital, Perth WA, Australia Royal Melbourne Hospital, Melbourne VIC, Australia Royal Perth Hospital, Perth WA, Australia

 

Click here for symposium synopsis

This symposium will discuss AVROBIO’s ex vivo lentiviral gene therapy approach and how new innovations in clinical practices are being implemented in clinical trials to study their impact on patient safety and tolerability for this important gene therapy technique. Drs. Thomas, Nicholls and Carnley will talk about their experience enrolling and following multiple patients in the FAB-GT trial, the first Phase 2 lentiviral gene therapy trial for Fabry disease. The panel discussion will address the experience of the patient from apheresis and conditioning to post-gene therapy. This symposium will be chaired by Dr Wynn.

Introducing HST5040: A Systemic Small Molecule Approach for MMA and PA

 

Date/Time: Tuesday 23 November 2021, 16.30 – 17.30 AEDT and on-demand

No cost to attend with Congress registration.

Presented by Hemoshear

Please note this symposium is only available to Health Care Practitioners.

 

Speakers:

Carlo Dionisi-Vici, MD Kimberly A Chapman, MD, PhD Gerald F. Cox, MD, PhD

 

 

Speaker Information
Carlo Dionisi-Vici, MD Kimberly A Chapman, MD, PhD Gerald F. Cox, MD, PhD
Dr. Dionisi-Vici is currently Head of the Division of Metabolic Diseases and of the Research Unit for Metabolic Diseases at the Bambino Gesù Children’s Research Hospital, Rome, Italy.  He is the President of the Italian Society for the study of Inborn Errors of Metabolism. His clinical work and research are focused on disorders of glucose metabolism, including fatty acid oxidation disorders, glycogen storage disease, hyperinsulinism, as well as on organic acidaemias, urea cycle defects, homocystinurias, mitochondrial and lysosomal disorders and on the management of metabolic emergencies. Dr Dionisi-Vici obtained his medical degree and completed his residency in Paediatrics at “La Sapienza” University. Dr. Kimberly Chapman is a metabolic geneticist and the director of the mitochondrial disorders clinic at Children’s National Hospital in Washington, DC. Her clinic interests focus on mitochondrial diseases, metabolic disorders and cardio-genetic diseases. Her research interests are several metabolic pathways and protein complexes within them.  Dr. Chapman completed her medical genetics training at the Children’s Hospital of Philadelphia before joining Children’s National in 2010. Dr. Gerry Cox is acting chief medical officer of HemoShear Therapeutics, Inc. He is a board-certified clinical geneticist and pediatrician with nearly two decades of industry experience in leading clinical development programs for rare diseases. He previously served as chief medical officer at Editas Medicine, and vice president of rare disease at Sanofi Genzyme. He still sees patients at Boston Children’s Hospital, where he was previously on the full-time staff and completed his pediatrics and genetics training.  He also is an instructor in pediatrics at Harvard Medical School.

 

Click here for symposium synopsis

There are currently no approved medical therapies that address the underlying causes of methylmalonic acidemia (MMA) and propionic acidemia (PA).  While newborn screening in some regions of the world has improved survival, many patients continue to suffer from cognitive impairment, frequent acute metabolic decompensations, severe organ damage, and premature death. This symposium will review newly published diagnosis and management guidelines for MMA and PA, reinforce the need for more effective therapies, and address the value of natural history data to select appropriate clinical trial outcome measures for MMA and PA.  HemoShear will introduce the science behind its oral small molecule HST5040, provide a status update on the ongoing Phase 2 clinical trial, and share opportunities to become involved in future clinical trials.

The story of the United Kingdom National Alkaptonuria (AKU) Centre and its global influence on research, changing the face of AKU management.

Date/Time: Tuesday 23 November 2021, 16.30 – 17.30 AEDT and on-demand

No cost to attend with Congress registration.

Presented by VitaFlo

Speakers:

Shirley Judd Professor Ranganath

 

Click here for symposium synopsis

This is the story of the United Kingdom National AKU Centre (NAC), which opened its doors to patients in June 2012 at The Royal Liverpool University Hospital, to provide assessments and treatment for people with AKU. The NAC joined forces with 12 European partners to establish the DevelopAKUre programme, a series of major international clinical trials, which aimed to study and assess the effectiveness of many therapies, including a potential drug treatment, for AKU. By 2020, a drug was registered as a treatment for AKU across the European Union (EU) and the UK. During this time, the NAC identified the need to support the nutritional status of patients with AKU to optimise joint replacement and surgery outcomes, and to manage the acquired tyrosinemia resulting from the drug treatment. The centre has recently participated in a trial to examine the use of a casein glycomacropeptide-based protein substitute in supporting nutritional status and managing tyrosinaemia in adult patients with AKU. Through its commitment to research, international collaborations and continued support of patients, the NAC has been instrumental in changing the face of AKU management.

 

Burden of treatment and Quality of Life in Patients with Urea Cycle Disorders

Date/Time: Tuesday 23 November 2021, 16.30 – 17.30 AEDT and on-demand

No cost to attend with Congress registration.

Presented by Immedica

Please note this symposium is only available to Health Care Practitioners.

Speakers:

Karolina Stepien
Salford Royal NHS Foundation Trust, UK
Francis Fatoye
The Manchester Metropolitan University, UK
Gillian Yeowell
The Manchester Metropolitan University, UK
Danielle Burns
The Manchester Metropolitan University, UK

 

Speaker Information
Karolina Stepien
Salford Royal NHS Foundation Trust, UK
Francis Fatoye
The Manchester Metropolitan University, UK
Gillian Yeowell
The Manchester Metropolitan University, UK
Danielle Burns
The Manchester Metropolitan University, UK

Dr Karolina M Stepien is a Consultant in Adult Metabolic Medicine, Salford Royal NHS Foundation Trust, UK, and an Honorary Senior Lecturer at the University of Manchester, UK.

Her special interests include Inherited Metabolic Diseases (IMD), Endocrinology and transition from paediatric to adult care. She has clinical responsibilities in both general metabolic and lysosomal storage disorders.

Dr Stepien is the principal investigator of a number of academic and commercial studies on treatments for IMD in adults. A particular interest relates to understanding of the natural history and disease progression of IMD, and their long-term outcomes in adults. Dr Stepien is an author of over 60 papers and book chapters in metabolic medicine, and serves as a peer reviewer and a guest editor for Frontiers in Genetics, Journal of Clinical Medicine and Frontiers in Cardiovascular Medicine.

Professor Francis Fatoye is a Physiotherapist and Health Economist. He is a Professor of Health Economics and Outcomes at Manchester Metropolitan University. Francis has international reputation for his expertise in Health Economics and Economic Evaluations; Outcomes Research; Real World Evidence (Big Data). He has successfully completed applied funded research projects and published his research findings widely with over 250 publications in applied research linked to the benefit of Health Systems, Governments Agencies and Companies to improve health outcomes and population health. In the last few years, Francis has secured ~£2m research funding including grants from Innovate UK/ESRC, NIHR, Pharmaceutical and Medical Devices companies. He has been successful at influencing guidelines and improving health outcomes and population health nationally and internationally. His research studies have been pivotal in securing National Institute for Health and Care Excellence (NICE) approvals with direct economic impact through increased sales of pharmaceutical products and cost savings to health systems.

Dr Gillian Yeowell is Associate Professor and Faculty Deputy Head of Ethics at Manchester Metropolitan University. She is a a qualified musculoskeletal physiotherapist and a specialist in neuro-musculoskeletal rehabilitation. Her research is in musculoskeletal health and wellbeing with methodological expertise in qualitative and mixed-methods research. Her research focusses on understanding the participant perspective to improve patient outcomes and health related quality of life. She has over 70 peer review publications and has contributed approx. £1,000,000 in recent grant income in this area. Recent funded projects include: Chartered Society of Physiotherapy, National Institute for Health Research, Age UK, Nuffield Health, and Pharma.

 

Danielle is a Senior Research Assistant at Manchester Metropolitan University, a position funded by a strategic partnership held between the institution and Nuffield Health. Her background is in Sport & Exercise Psychology; she achieved a first-class honours degree in Sport and Exercise Psychology from Edge Hill University and a Masters in Sport Psychology from Liverpool John Moores University. Danielle supports a range of health-related projects at the university from both the Department of Health Professions and Psychology. She is also completing a part-time PhD in Psychology alongside her research role.

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A protein restricted diet maybe the greatest challenge for many patients with urea cycle disorders, but in addition patients also have to cope with large amounts of dietary supplements and pharmaceutical treatments. This session discusses the burden of pharmaceutical treatments used within the management of Urea Cycle Disorders and the impact they have on patient’s quality of life.

 

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