Towards a Brighter Future 2010 Neuromuscular Disorders Conference
Conference Program February 26th-27th 2010, The University of Sydney, Eastern Avenue Auditorium Presented by: Duchenne Foundation Institute for Neuroscience and Muscle Research
The Smart Combination “A growing number of children with NMD are surviving to adulthood with the aid of ventilatory support. The combination of NIV with coughassist techniques decreases pulmonary morbidity and hospital admissions.” Simonds A. Recent Advances in Respiratory Care for Neuromuscular Disease Chest 2006; 130:1879–1886
Welcome
from the Conference Convenors
The Institute for Neuroscience and Muscle Research, Sydney in partnership with Duchenne Foundation welcome you to ‘Towards a Brighter Future” Sydney 2010!
Conference Program The program aims to provide sound medical and scientific information to reassure parents that whilst there is no “one size fits all” miracle cure for each disorder, the future is going to be much better for many of our children. We know that world standards of care are changing every year via new drug therapies, practices and research findings and it is critical that we keep abreast of new information. The conference aims: • To bring families affected by Duchenne muscular dystrophy and other common neuromuscular disorders together to update world standards of care and research progress - firsthand, rather than in a diluted or technical written form • To focus on the most common without neglecting other major neuromuscular diseases • To encourage Australian medical specialists, doctors and therapists to grow in their proactive approach to diagnosis and treatment of persons affected by neuromuscular diseases • To increase awareness of positive outcomes • To address family, cognitive, social, psychological and palliative care issues • To strive for greater overall quantity and quality of life for all.
On behalf of the conference convenors we hope that you enjoy the conference experience.
Friday 26th February Session 1: Keynote Lectures Chair: Kathryn North Main Auditorium 8:00am
Registration
8:20am
Welcome Kathryn North
8:30am
The Journey- past present & future Kate Bushby
9:15am
Separating the hype from the hope Jeff Chamberlain - AGRF Proud Speaker Sponsor
10:00am
Morning Tea Session 2: Diagnosis and therapy of Neuromuscular Disorders Chair: Andrew Kornberg Main Auditorium
10:30am
Diagnosis: General approach to a child with weakness Kathryn North
11:10am
Molecular diagnosis & new born screening Nigel Laing
11:50am
Management of INMD in Denmark Jes Rahbeck
12:30pm
Lunch Session 3: Ask the Experts
1:30pm 1:40pm
DMD
SMA
Congenital muscular dystrophies and congenital myopathies
CMT Workshop
About adult muscular dystrophies
Chair Jos Hendriksen Main Auditorium
Chair Monique Ryan Room 116
Chair Kristi Jones Room 311
Chair Joshua Burns Room 310
Chair Kate Bushby Room 312
Understanding the role of dystrophin in the brain. Jos Hendriksen
All about spinal muscular atrophy Genetics, Diagnosis, Clinical profiles Monique Ryan
CMD Kristi Jones
Congenital Myopathies Andrew Kornberg
2:10pm
Potential therapies for CMD Andrew Kornberg
2:15pm
2:30pm
Preparing for adulthood and young adult lifestyles – practical and psycho-social pathways Jes Rahbeck
Respiratory issues Sarah Wright & Louis Boitano
Potential therapies for inherited myopathies Nigel Laing
2:40pm
3:00pm
History of CMT and other inherited neuropathies Robert Ouvrier
From cell to society: Genetics of CMT Garth Nicholson What to expect: clinical consequences of CMT Monique Ryan
Afternoon Tea Session 4: Ask the Experts DMD Chair Kate Bushby Main Auditorium
3:30pm
3:50pm 4:00pm 4:05pm
Seating, Mobility and equipment Chair Helen Posselt Room 311
Clinical Care Guidelines. Including guidelines for steroid use Kate Bushby
Wheeled mobility devices Anna Phillips
Carriers of Duchenne & Becker Muscular Dystrophy - How to look after your heart Heather Johnston
Preventative seating measures for maintaining posture Helen Posselt
4:20pm
LGMD Kate Bushby
CMTAA Darryl Beitsch
1:50pm
2:20pm
Welcome and overview Joshua Burns
Respiratory workshop
CMT
Chair Sarah Wright Room 312
Chair Joshua Burns Room 310
Use of the cough assist Sarah Wright Non-invasive ventilation (night and day) Louis Boitano Demonstration and trial of equipment
Managing the challenges in seating Luke Meighan (Rehab Engineer)
4:35pm
Molecular studies & registries Peter Taylor
6:00pm
Cocktail Dinner - Nicholson Museum, Sydney University
Latest and greatest treatments for CMT Josh Burns Physiotherapy for CMT Kristy Rose Occupational Therapy for CMT Paula Bray Podiatry for CMT Anita Hood Ask the experts
Myotonic Dystrophy Phillipa Lamont FSHD Alistair Corbett
Cardiac care John Bourke
Saturday 27th February Session 1: Topics in Neuromuscular Disease Chair: Kate Bushby Main Auditorium 8:00am
Changing the world for neuromuscular conditions Pat Furlong
8:30am
Endocrine issues and Bone health Craig Munns
9:00am
Orthopaedic surgery for the spine Geoff Askin
9:30am
Respiratory care for inherited neuromuscular conditions Louis Boitano
10:00am
Caring for the heart John Bourke
10:30am
Morning Tea Session 2: Breakout Sessions Chair Jos Hendriksen Room 310
11:00am
Behaviour management and emotional coaching Jos Hendriksen
Chair Andrew Kornberg Main Auditorium Introductory overview: Approaches to therapy and clinical trials Andrew Kornberg
Therapies for SMA and inherited neuropathies Monique Ryan and Steve Wilton:
Exon skipping covering Dutch Prosensa and AVI Biopharm MDEX trials Steve Wilton
11:20am 11:30am 11:40am
Prospects for gene therapy and cell therapy Jeff Chamberlain
12:00pm
Ataluren & Utrophian upregulation Kate Bushby
12:30pm
Chair Monique Ryan Room 312
Chair John Collins Room 311 Pain and Palliative Care issues John Collins
What do we know about Quality Of Life Paula Bray
Lunch Session 3: Breakout Sessions Research Chair Kathryn North Main Auditorium
1:30pm
3:00pm
Young Investigators prize presentations Clinical K. Rose L. Waddell F. Moran Science J. Berger N. Mokbel F. Evesson
OT Chair Helena Young Room 311
Physiotherapy Chair Helen Posselt Room 310
School, equipment and Home modifcations Helena Young
Exercise- How much is too much? Helen Posselt
Sensory processing in DMD Mathilde Backhouse
Hydrotherapy & recreational swimming Sophie Knott
Dietetics Chair Helen Truby Room 116 Nutritional requirements for DMD Nutriceuticals The underweight child ZoĂŤ Davidson and Helen Truby
Technology workshop Chair Gemma McDonald Room 312 Ability Technology Switches and Environmental controls Gemma McDonald
Stretching and Splinting Jenny Bellemore
Afternoon Tea Session 4: Breakout Sessions Research Chair Kathryn North Main Auditorium
3:30pm
Young Investigator presention Z.Davidson Research updates Kate Bushby Jeff Chamberlain Nigel Laing
Equipment issues for the young child Chair Tiffany Heddes Room 311
Young Women and Men speak Chair Karni Liddell Room 310
Special needs solutions Posture & Seating Power Mobility & wheel chairs Helen Posselt
Inspiring speakers share their stories about living with a neuromuscular disorder
Sibling issues Chair MontroseAccess Room 312 Starlight Foundation Montrose Access display & discussion website Q+As
Closing Session Chair: Pat Furlong Main Auditorium 4:30pm
Panel Discussion: Where to from here An open forum featuring national and international experts comprising of clinicians, scientists, non-profits and persons living with neuromuscular disorders. Bring your questions. Award the young investigators prizes
5.30pm
Conference Close
- Free Professional Assessments - Power & Manual Wheelchairs - Seating & Pressure Care - Home Automation - Specialist Controls
Enabling Genomic Research
Sequencing including Next-Generation Sequencing Genotyping Gene Expression Epigenomics & Structural Genomics Bioinformatics Applied Genomics www.agrf.org.au Nucleic Acid Extraction
Speakers
Our International Guests Louie Boitano
Louie Boitano MSc, RRT is a respiratory therapist in the Departments of Respiratory Care, and Pulmonary and Critical Care Medicine at the University of Washington Medical Center in Seattle Washington. He has a Master of Science degree in biology with an emphasis in physiology. His areas of specialization are neuromuscular respiratory pathophysiology and the application of noninvasive respiratory aids for neuromuscular diseases affecting respiratory function. He is co-principal with Dr. Joshua Benditt in the Northwest Assisted Breathing Center, a center of excellence for research and training in the noninvasive respiratory support of neuromuscular respiratory insufficiency within the University of Washington School of Medicine. His clinical responsibilities include outpatient diagnostic testing and respiratory case management of neuromuscular patients with developing respiratory insufficiency, as well as clinical research in neuromuscular respiratory insufficiency and respiratory muscle aids. He is a member of the following neuromuscular respiratory advocacy working groups: 1. Medical advisory board for the International Ventilator Users Network 2. Muscular Dystrophy Association Pulmonary Subcommittee 3. American College of Chest Physicians Neuromuscular Respiratory Subcommittee
Jeff Chamberlain Jeffrey S. Chamberlain, Ph.D. is the McCaw Endowed Chair in Muscular Dystrophy, a professor of Neurology, Medicine and Biochemistry, and Director of the Senator Paul D. Wellstone Muscular Dystrophy Cooperative Research Center at the University of Washington School of Medicine.
He received his B.A. in biochemistry from Rice University, and a Ph.D. in biochemistry from the University of Washington (1985). His lab moved to Seattle in 2001 to build a translational research program for the muscular dystrophies. The Chamberlain laboratory is focused on understanding and developing treatments for the muscular dystrophies. A major area of study involves the development of gene therapy and stem cell therapy approaches. His lab has shown recently that therapeutic genes can be delivered throughout the body of a mouse model for Duchenne muscular dystrophy, leading to a major improvement in muscle strength, elimination of dystrophic pathology and greatly extending lifespan. Plans are currently being developed for human safety trials of the gene therapy approaches.
Jes Rahbek Dr Jes Rahbek MD, is the Chief Medical Officer and the Director of the Muskelvindfunden (Danish Rehabilitation Centre for Neuromuscular Diseases) Denmark, which is a nationwide centre that follows all people diagnosed with DMD in Denmark from cradle to grave. Dr Rahbek has vast experience in the transitional care and management of young men with Duchenne muscular dystrophy. He is a specialist in general medicine and neurological disorders in children
Jos Hendriksen Dr. Jos Hendriksen, Ph.D. is a clinical psychologist affiliated with both the Department of Behavioural Sciences of the Epilepsy Centre Kempenhaeghe and the Centre of Neurological Learning Disorders. He participates in research, clinical practice and education and has conducted several scientific studies on learning disorders in general and in boys with DMD more specifically. He is a (co)author of several publications on studies in Attention Deficit Disorders and learning disorders. He has published on DMD and reading, DMD and ADHD and psychosocial adjustment in DMD. He is the co-ordinating teacher in child psychology and childhood neuropsychology at the Maastricht University Medical Centre. Dr. Hendriksen is a senior registered clinical psychologist, child psychologist and neuropsychologist.
Pat furlong
Katie Bushby Professor Katherine Bushby is the Acting Res.Chair of Neuromuscular Genetics at Newcastle University. She is a clinical academic with joint appointments between Newcastle University and the NHS. Prof. Bushby and Volker Straub are the joint Chair of the governing board of TREAT-NMD, a major initiative in the neuromuscular field that is creating the infrastructure to ensure that the most promising new therapies reach patients as quickly as possible.
John Bourke Dr John Bourke is a consultant and honorary senior lecturer in cardiology at the Freeman hospital, Newcastle Upon Tyne hospitals NHS trust and Institute of Human Genetics Newcastle University. He has for a long time been interested in the management of the cardiac aspects of muscular and myotonic dystrophies. Working closely with the neuromuscular genetics team led by Professor Kate Bushby at the International Centre For Life in Newcastle, he runs a dedicated cardiology muscle clinic at the Freeman Hopsital. Brighter Future ad 017-10 #1 15/2/10 1:43 PM Page 1
Gaucher disease
MPS I
Pat Furlong is the Founding President and CEO of Parent Project Muscular Dystrophy (PPMD), the largest nonprofit organization in the United States solely focused on Duchenne muscular dystrophy (Duchenne). When doctors diagnosed her two sons, Christopher and Patrick, with Duchenne in 1984, Pat didn’t accept “there’s no hope and little help” as an answer. Pat immersed herself in Duchenne, working to understand the pathology of the disorder, the extent of research investment and the mechanisms for optimal care. Her sons lost their battle with Duchenne in their teenage years, but she continues to fight
Fabry Disease
Pompe Disease
MPS II
Commitment to patients
Genzyme Australasia Pty Ltd. ABN 24 083 420 526. Level 1, Building C, 12-24 Talavera Road, North Ryde NSW 2113. Ph: +61 2 9978 3900. ©2008 Genzyme Corporation. PGH 10-16
INMR About Us
The Institute for Neuroscience and Muscle Research (INMR) is based at The Children’s Hospital of Westmead and affiliated with the University of Sydney. The INMR was established in 2000 under the leadership of Professor Robert Ouvrier and Professor Kathryn North with the goal of improving the lives of those affected by muscle and nerve diseases through cutting edge laboratory and clinical research. Our research is focussed on the following areas: • Identification of the CAUSE : The identification of the genes that result in many muscle and nerve disorders is essential to enable accurate diagnosis. • Understanding the MECHANISM : Developing an understanding of WHY dysfunction of the particular gene or protein results in weakness is critical for the development of specific therapy. • Development of THERAPY : The ultimate goal of our research is the development of specific therapies and interventions that will overcome or alleviate physical disabilities. In 2010 the INMR commemorates its 10th anniversary. Over that time we have grown from a small group of 8 to a multi-disciplinary team of over 40 clinicians and scientists. The questions we seek to answer are directly relevant to our patients - the INMR is a research and treatment centre all under one roof within a Hospital setting and this ensures our research is promptly translated into improved health care. The INMR is closely integrated with the Neurogenetics Clinical Service that cares for more than 1800 children and adults. Our research program includes a broad spectrum of neuromuscular disorders. Our goal is to enhance the translation of our basic research (gene discovery, study of the disease pathogenesis and development of novel therapeutic approaches) into improved patient care and quality health outcomes in the clinical setting. Over the next 10 years we will develop novel technologies to increase our rate of discovery of new genes and to further unlock the mechanism of disease to identify potentially reversible causes of muscle weakness. Most importantly, we will expand and accelerate our Clinical Trials Program in collaboration with our colleagues nationally and internationally. If you are interested in finding out more about us, please visit our website www.inmr.com.au or call Michelle Moeskops on 02 9845 1905
Duchenne Foundation Who are we?
The Duchenne Foundation was originally incorporated in 2003 as Parent Project Australia, with the aim of supporting families living with Duchenne and Becker MD. Duchenne is the most common and the most disabling of the inherited neuromuscular conditions. Becker MD is a milder form with later onset. Duchenne Foundation’s mission is to improve health outcomes as well as both the quality of life and longevity of the people affected, through investment in research, dissemination of information and knowledge, and advocacy. Parent Project became Duchenne Foundation in 2008. We are a not-for-profit organisation consisting of parents and professional volunteers and governed by a board of committed stakeholders from around Australia. The Duchenne Foundation recognises that in order to make an impact upon improved health outcomes for families affected by the dystrophinopathies (BMD & DMD), our stakeholders themselves must be individually and collectively proactive. To this end DF is aligned with the world-wide Parent Project movement, the United Parent Project muscular dystrophy. By working collectively both at home and internationally, we aim to change the face of Duchenne.
Notes Posters Presenting Author
Title
A. Lek
What can happen when dysferlin goes wrong
F. Lemckert
The Role of MG53 in Muscle Membrane Repair – Friend or Foe?
L.B. Waddell*
Improving diagnosis of rare muscular dystrophies.
J. Berger*
Evaluation of Therapeutic Strategies for Duchenne Muscular Dystrophy Utilizing Dystrophin-Deficient Zebrafish
M. Morrison
Caring for Paediatric Neuromuscular Patients: A Multidisciplinary Approach
E. Oates
The pathological basis of autosomal dominant congenital spinal muscular atrophy
G. Parasivam
Genetic counselling in Duchenne muscular and Becker muscular dystrophies- considerations for carrier testing
F. Evesson*
Studying dysferlin protein behaviour to understand muscular dystrophy
N. Mokbel *
Molecular pathogenesis of Nemaline Myopathy in patients with a novel deletion in TPM2
P.J.T. Bowers
Determinants of Quality of Life in a NMD Cohort
K.Rose*
Serial night casting for increasing ankle flexibility in children and young adults with Charcot-MarieTooth disease: a randomised controlled trial
F.Moran*
Effect of Mechanical In-Exsufflator (MI-E) use in the Home on Hospital Admissions and Lifestyle in Neuromuscular Disorders (NMD): A Retrospective Audit
S. Nicklin
Shark Bait Kids: Hydrotherapy, Computer and Literacy Programme designed specifically for kids with DMD
R Peters
Working memory skills in boys with Duchenne Muscular Dystrophy
Z. Davidson*
Let the sunshine in: exploring Vitamin D in DMD
N. Vorster
The use of the Cough Assist
A. Everett
Sleep Interventions in Occupational Therapy
P.Bray
In the Palm on your hand: Feasibility of a computerised diary method to measure quality of ‘everyday’ life in children.
* Nominated for New Investigator Award
Notes
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Exhibitors
Special Thanks Australian Government Department of Families, Housing, Community Services and Indigenous Affairs EXHIBITORS
Supporters Anne Clark Greg & Cheryl Morrish Kevin Edmondstone Madisons Mountain Retreat Margaret Mousa Dolls Theraquatics Unilever