The Sydney Children’s Hospitals Network (SCHN), comprised of the Sydney Children’s Hospital (SCH), Randwick and The Children’s Hospital at Westmead (CHW).
The Sydney Children’s Hospital Network (SCHN) is a large tertiary paediatric facility comprising of two site locations with one at Randwick (SCH) and the other at Westmead (CHW). In 2019/20 a total of 153,027 children from across NSW and beyond, were cared for across the Network's Westmead and Randwick campuses. There are more than 8,000 staff across the Network, collaborating to provide world-class paediatric health care in a family-focused, healing environment.
SCHN services a large population across greater Sydney, New South Wales (NSW) and the Australian Capital Territory (ACT). Referrals are also received from other Australian states, territories and overseas countries. SCHN encompasses world class facilities in both clinical care and research for paediatric neurological and neuromuscular conditions. SCHN is Australia’s first approved commercial treatment centre for Zolgensma gene therapy for patients with SMA.
The Sydney Children’s Hospital (SCH) Randwick and The Children’s Hospital at Westmead (CHW) each have dedicated neuromuscular clinics that serve as a tertiary referral centre for NSW, ACT and beyond.
These two clinics combined care for more than 850 children and adolescents with a range of muscle and nerve disorders (including neuropathies, congenital myopathies, myotonic dystrophy, Duchenne muscular dystrophy, spinal muscular atrophy, myasthenia gravis and more). Care is provided in multidisciplinary clinics inclusive of neurology, genetics, respiratory, allied health, and psychology, with input from, endocrinology, orthopaedics, gastroenterology, and surgery.. The clinical nurse consultants and clinical nurse specialists have a central role in coordination of the outpatient clinics, inpatient admissions and administration of intrathecal medications such as those for SMA. Support and education for families affected by neuromuscular conditions is a key aspect of the clinic, as is the integration of clinical research into clinical care.
The SCHN Neurology gene therapy service was set up in 2020 and has now treated over 20 SMA children from across Australia with Zolgensma. The team has gained expertise in gene therapy treatments for children with SMA. SCH is Australia’s first approved commercial treatment centre for Zolgensma gene therapy for patients with SMA.
The NeuroMuscular Clinic
c/o Paediatric Neurology Department
Sydney Children’s Hospital
Randwick NSW 2031
Paediatric Neurologist / Clinical Lead for Neuromuscular Clinical Trials in SMA
Associate Professor Michelle Farrar, is an Associate Professor in Paediatric Neurology at UNSW Sydney and specialist child neurologist at Sydney Children’s Hospital, leading the Neuromuscular clinical and research programs. She is a leading researcher in paediatric neuromuscular and rare neuro-genetic disorders, successfully translating research to improve health practice and outcomes for patients, their families and the community. A/Prof Farrar’s team is focused on developing and translating innovative ways of providing the best possible care from the time of diagnosis, through treatment and beyond to people with neuromuscular diseases. The research program also integrates interdisciplinary research, together with community and consumer involvement.
Michelle is the lead clinician on the SMA NBS pilot program across NSW and the ACT. This has enabled SCH to play a key role in clinical trials, including gene therapy for newborns with SMA living within Australia. Michelle was awarded a prestigious NHMRC Investigator award, enabling her to build a translational program of research over the next 5 years.
Dr Sampaio has appointments at Sydney Children’s Hospital (Randwick), where he also the Head of Department of Neurology, and The Canberra Hospital, ACT. He graduated from the University of the Witwatersrand in Johannesburg in 2002, started his specialisation in paediatric neurology in 2009 and has been in consultant practice since 2012. He has a master’s degree in Epilepsy and teaches at UNSW.
Dr Arlene D’Silva commenced a post- doctoral research fellow role in 2020 following 2 years as a research assistant in which she successfully established the infrastructure, capability, and standard operating procedures for longitudinal collection of bio fluids (CSF, blood, urine and saliva) from children with neuromuscular disorders at the Sydney Children’s Hospital, Randwick. More than 200 bio specimens (CSF, serum, saliva, urine) from a well-characterised cohort of forty-two SMA patients have been collected and stored to date. Arlene is combining comprehensive patient phenotyping with functional genomic biomarker discovery studies. Currently, she is investigating the role of novel miRNAs, splice variants and other molecular signatures in facilitating understanding of disease pathophysiology and their clinical, pharmacological, and therapeutic utility.
Stephanie Duvenage holds a Bachelor of Exercise Physiology (UNSW) and Masters of Physiotherapy (University of Sydney) She has been working as a physiotherapist for 6 years and have worked with the neuromuscular team for the past 2 years. She enjoys being a clinical evaluator for multiple clinical trials and conducts physical and respiratory assessments with the participants.
Margot Morrison is a Clinical Nurse Consultant responsible for the coordination of care within the multidisciplinary setting for children with Neuromuscular Conditions. Her role expands to coordination of SMA treatments across the Sydney Children’s Hospital Network.
Sandra Holland has been pivotal in establishing and expanding the Neurology Gene Therapy program at the Sydney Children’s Hospital Network. Sandra is clinical trials coordinator working on a presymptomatic pharmaceutical study in SMA infants. As trial coordinator Sandra is responsible for data input onto various clinical trial databases, answering queries from the trial sponsors and upkeep of the trial site master files for audit readiness. In addition, she coordinates patient trial visits and site inspections.
Michelle Milner is a Clinical Nurse Consultant responsible for the coordination of care within the multidisciplinary setting for children with Neuromuscular Conditions. Michelle also works as a senior nurse specialist caring for complex neurological patients on the neurology acute and chronic care ward.
Dr Didu (Sandi) Kariyawasam, is a paediatric neurologist and is currently in the third year of her PhD candidature. Her PhD studies are investigating novel strategies employed in the prevention, early diagnosis and management of paediatric neuromuscular disease. Her studies include assessing the implementation of the first state wide new-born screening (NBS) program for SMA in Australia. In addition, her PhD utilises novel neurophysiological assessment tools to provide an evaluation of disease activity and treatment responsiveness to yield sensitive and meaningful outcome measures in SMA. The main body of her work has been published in high impact factor journals including Genetics in Medicine, JNNP and Lancet EClinical Medicine. Her most recent work revealed wide acceptance from parents and healthcare professionals for SMA screening and was featured in the UNSW newsletter: Australian pilot program for spinal muscular atrophy screening in new-borns garners overwhelming support | Medicine - UNSW Sydney
Karen Herbert, senior neuromuscular physiotherapist, works with the multidisciplinary team. Karen is also involved in research and plays a crucial role in providing expertise to carry out functional assessments in children enrolled in clinical trials. Karen’s expertise has been vital to the SCH SMA clinical trial team and has enabled the capability to progress Australia as a leader in SMA therapeutics.
Sarah Grattan is a research assistant who provides technical and research assistance to research staff in activities associated with various research projects.
Sarah-Grace has shown that wheelchair prescription is a complex and multi-faceted process that represents more than just a piece of equipment to parents and identified unmet information, support and service needs of parents and families. Sarah-Grace developed a booklet in partnership with parents of children with a neuromuscular condition and providers of the National Disability Insurance Scheme (NDIS) titled” GETTING WHEELS: A parents’ and carers’ guide to introducing a wheelchair for children with a neuromuscular condition”. Sarah-Grace continues her research to pilot the new booklet among parents and health professionals in paediatric NMD clinics nationally. Sarah-Grace was awarded a SCH Foundation allied health PhD scholarship.
Neurology clinical trials project manager and is assisting with the operations of neuromuscular clinical trials at SCH.
Her expertise spans across governance requirements, ethics and budget delivery for clinical trial start-up and beyond.