Research & trials
In line with our strategic plan, we remain committed to supporting relevant research into neuromuscular conditions and we continue to create a collaborative environment where research advances that take place both locally and globally will positively influence the lives of those in our community.
As a subcommittee of the Board of Neuromuscular WA, The Community Engagement & Research Advisory Committee (CERAC) provides advice, supplementary information and recommendations in relation to strategic research initiatives, research scholarship candidates and their performances, and liaises with appropriate research services, foundations, education institutes and hospitals where relevant to us.
The CERAC provides leadership and advice on mechanisms to improve monitoring, benchmarking and reporting of scholarship holders’ research funded by our organisation to ensure we continue to allocate funds appropriately.
We aim to maximise the impact of the limited funds available by identifying research areas that will promise to make the greatest scientific advances and have the most profound quality of life outcomes for our families. We will always ensure that our research strategy aligns to initiatives that have demonstrated advances across the globe and we will always endeavour to collaborate across multidisciplinary environments.
To ensure we continue our focus in an applied manner, we have developed a formalised Research Strategy which defines the priorities for our community and demonstrates our commitment to achieving these outcomes for you.
We will always embrace the successes of the last 56 years and work tirelessly to generate opportunities in the future. If you’d like to know more, please get in touch.
Many of our projects are funded through third parties who entrust us to utilise their money to do great things in the research space for those living with neuromuscular conditions in WA.
TEAM Spencer Research Grants and Scholarships
TEAM Spencer was created by Rick and Ruth Steven, in honour of their son Spencer, who was born in March 2006 with SMA and who sadly passed away just seven months later. Since 2012, TEAM Spencer has dedicated itself to raise funds for Neuromuscular WA through various events with funding earmarked for PhD Students, research initiatives and projects that will support individuals and families affected by Spinal Muscular Atrophy.
Neurodegenerative Disorder Center Inc (NDC) Research Funds
In July 2022, the Neurodegenerative Disorder Center Inc (NDC) Board transferred the balance of the NDC funds, approximately $900,000, to Neuromuscular WA as part of their legal obligation during the winding-up process. This generous donation was made with the specific instruction to direct the funds towards research led by Professor Anthony Akkari and his support personnel. In keeping with the legacy of our esteemed founder, Professor Byron Kakulas, and his commitment to advancing research in neuromuscular conditions, these funds will be used with the utmost care and dedication over the next few years to advance research in accordance with his guiding principles.
The Harold & Sylvia Rowell Scholarship and Research Projects Funds
Harold and Sylvia Rowell, long-standing honorary life members deeply committed to advancing research in neuromuscular conditions, made a substantial bequest 2012. This generosity led to the establishment of the Rowell Scholarship Fund, which awarded its first PhD Scholarship in 2014, with subsequent scholarships awarded in 2015 and 2016. Each scholarship, costing an estimated $30,000 - $35,000 per year, supports up to three scholars simultaneously in their pursuit of groundbreaking research. In addition to funding scholarships, these bequest funds are also dedicated to supporting research projects focused on improving clinical outcomes of neuromuscular conditions, furthering the Rowells' legacy in advancing endeavours in this field.
Current Projects
Progress Toward Treatments for Motor Neurone Disease
Physicians/Researchers involved: Dr Loren Flynn and Prof Anthony Akkari
Conducted at: Murdoch University
Brief overview: Motor Neurone Disease (MND) leads to muscle wasting due to damage to the motor neurons that connect muscles to the brain via the spinal cord. MND progresses rapidly in affected individuals, leading to severe immobility and death typically within two to five years of diagnosis. Currently, there are limited therapeutic options for MND, with minimal extension of life expectancy or improvements in quality of life.
Dr Loren Flynn and Prof Anthony Akkari have been at the forefront of developing precision therapeutics that regulate individual genes implicated in motor neuron damage. Their approach utilises antisense oligonucleotides (AOs) to precisely modulate gene activity, reducing the production of toxic proteins that contribute to neuronal degeneration. This AO-based strategy has shown promise in targeting genes associated with MND, offering a potential avenue to slow disease progression.
Over the past year, significant progress has been made in their research:
SOD1 Program (BSB0001): Their data suggests that suppression of SOD1 using their proprietary AO drug, BSB0001, appears to provide beneficial effects in neuronal cell lines derived from sporadic MND patients. This is a key advancement, as it indicates potential therapeutic applicability beyond SOD1-mutant MND cases.
TARDBP Program: The team has successfully demonstrated target engagement in a mouse model, marking an essential milestone in validating the approach. This success now enables the progression of pharmacokinetic (PK) and pharmacodynamic (PD) studies, which are critical for understanding the drug’s behaviour in the body.
Grant Submissions & Future Plans: A FightMND grant was submitted to support the clinical development of BSB0001 for both SOD1-mutant and sporadic MND patients. A decision on funding is expected in November.
A drug development grant for TARDBP was submitted to generate data essential for determining the feasibility of progressing to Good Laboratory Practice (GLP) toxicology studies – a crucial step for clinical translation.
Challenges & Future Outlook: As with many research endeavours, resourcing and personnel shortages continue to pose challenges. Efforts are ongoing to secure additional funding for both consumables and staffing to maintain research momentum. Despite these hurdles, the team remains focused on prioritising these two high-impact MND drug targets.
Looking ahead, the goal is to initiate a clinical trial for BSB0001 in 2026, pending successful funding and regulatory approvals. The team is committed to translating these promising discoveries into meaningful therapeutic options for MND patients and remains optimistic about their continued progress toward this goal.
Outcomes from project: Dr. Loren Flynn and Prof. Anthony Akkari have made progress in developing treatments for MND using antisense oligonucleotides (AOs). Their SOD1 drug, BSB0001, shows promise in lab tests and they’ve successfully tested a TARDBP drug in mice. They are working on funding for clinical trials and aim to start trials for BSB0001 in 2026.
Duration of project: Current
Rare Diseases Project: Stan Perron Foundation
Funded by: Stan Perron Foundation & Neuromuscular WA
Physicians/Researchers involved: Dr May Aung-Htut
Conducted at: Murdoch University & Perron Institute research centre
Brief overview: Rare diseases are a leading cause of childhood morbidity and mortality, affecting approximately two million Australians – 70% of whom are children. These conditions are often difficult to diagnose, with an average delay of more than five years. This significantly impacts access to treatment, as 95% of paediatric rare diseases have no approved therapies, leaving clinical care limited to symptom management.
This project aims to accelerate the diagnosis of rare diseases and enable the development of precision genetic therapies using antisense oligomers (AOs). AOs are short nucleic acid sequences designed to modify gene expression at the RNA level, directly addressing the genetic defects that cause disease.
By employing patient-derived cells and cutting-edge molecular techniques, researchers will investigate disease-causing mutations and develop tailored AO-based therapies within a 12-month timeframe. In cases requiring further validation, additional studies will be undertaken before progressing to preclinical testing.
This innovative approach integrates advanced genomic analysis with antisense drug development, establishing a translational framework for diagnosing and treating paediatric rare diseases more efficiently. The streamlined process; from genetic discovery to therapeutic intervention, holds significant promise for improving clinical outcomes for children with previously untreatable conditions.
Through this work, researchers aim to pave the way for personalised treatments, advancing precision medicine for paediatric patients. This research will not only accelerate diagnosis and treatment but also provide a critical pathway for the development of genetic therapies for a wide range of rare diseases.
Duration of project: Current
PHYSIOTHERAPY FOR CHILDREN WITH NMCs AT PCH
Funded by: Neuromuscular WA
Physicians/Researchers involved: Nicola Hanlin
Conducted at: Neuromuscular Clinic at Perth Children’s Hospital
Brief overview: Motor Neurone Disease (MND) leads to muscle wasting due to damage to the motor neurons that connect muscles to the brain via the spinal cord. MND progresses rapidly in affected individuals, leading to severe immobility and death typically within two to five years of diagnosis. Currently, there are limited therapeutic options for MND, with minimal extension of life expectancy or improvements in quality of life.
Dr Loren Flynn and Prof Anthony Akkari are leading the development of precision therapeutics designed to target the genetic drivers of motor neuron degeneration. Their research focuses on modulating disease-causing genes using antisense oligonucleotides (AOs) alongside complementary drug development approaches to reduce the production of toxic proteins involved in neuronal loss.
To support this work, the team has established advanced patient-derived neuronal models, where skin cells from individuals with MND are converted into motor neurons in the laboratory. These models enable researchers to study disease mechanisms in a patient-specific context and test the effectiveness of new therapeutic candidates.
The program is progressing multiple therapeutic pathways targeting key disease-associated genes. The SOD1 program (BSP 0001) has demonstrated encouraging effects in improving neuronal survival and function in patient-derived models and is advancing through final preclinical safety studies to support future clinical trials.
In parallel, the TARDBP (TDP-43) program has shown strong efficacy in both patient-derived neuronal systems and animal models, with further safety and pharmacology studies underway. This target is particularly significant as it is implicated in the majority of MND cases.
Across the broader AO portfolio, additional gene targets including SOD1, TARDBP, STMN2 and FUS continue to be evaluated in disease-relevant cellular systems to refine and prioritise therapeutic candidates.
In 2025, the establishment of Black Swan Biotech Holdings Pty Ltd provided a dedicated pathway to accelerate translation of discoveries from the laboratory into clinical development. This complements ongoing funding and infrastructure support, including the GMA-Garnet Biohub, which enables high-throughput neuronal modelling and drug screening.
The research team remains focused on advancing multiple complementary therapeutic strategies toward clinical application, with the ultimate goal of delivering more effective, personalised treatments for people living with MND.
Outcomes from project: A brief assessment of each child is undertaken, providing insight into the patient’s capacity for normal physical function and informing the type of therapies and supports required. Those who are more significantly impacted are offered separate appointments, where a more detailed assessment is completed.
Duration of project: February 2020 - current
DEVELOPING CLINICAL PREDICTORS OF DISEASE PROGRESSION IN CHILDREN WITH NMCS
Funded by: TEAM Spencer/Neuromuscular WA Scholarship
Physicians/Researchers involved: Dr Adelaide Withers, Professor Graham Hall, Dr Carlos Milla,
Dr Andrew Wilson, Association Professor Jenny Downs
Conducted at: Telethon Kids Institute, Perth Children’s Hospital, Stanford University
Brief overview: Thanks to the continued support from the Team Spencer SMA Research Scholarship, Dr Adelaide Withers and her research team at Perth Children’s Hospital and The Kids Research Institute Australia are conducting research to improve the respiratory and sleep health of children and families impacted by neuromuscular disorders.
The primary aim of this research is to determine whether alternative assessments such as lung function testing, symptom scores, quality of life indicators and motor function measures can better predict the onset of respiratory failure, enabling earlier intervention and improved clinical outcomes. A secondary aim is to use findings from a longitudinal cohort study to describe the natural history of respiratory disease in these conditions, supporting the development of clinical guidelines and future clinical trial outcome measures.
In 2025, data collection for the longitudinal study was completed, marking a major milestone for the project. The team is now actively analysing the dataset to better understand how respiratory and sleep health changes over time and to identify key predictors of disease progression.
Early findings have already identified previously unrecognised relationships between lung function and sleep apnoea, offering new insights into disease mechanisms and potential clinical monitoring approaches. These results have important implications for improving early detection and management of respiratory complications in neuromuscular disorders.
A significant achievement for the team was the completion of Dr Withers’ PhD thesis, titled ‘Sleep Disordered Breathing in Children with Neuromuscular Disorders as a Marker for Respiratory Disease Progression - Definitions, Diagnosis, and Cross-Sectional Associations’. This work has been presented at national and international conferences and contributes to improving clinical understanding of respiratory progression in this population.
The research continues to be supported by Neuromuscular WA and Team Spencer, with ongoing collaboration across Perth Children’s Hospital, Telethon Kids Institute, Stanford University and other international sites. The team acknowledges the invaluable contribution of participating families, community reference groups and research collaborators.
Outcomes from project: Sleep studies being conducted at home as an alternative to attending them at the hospital has been welcomed by families due to the convenience and comfort of not travelling or spending a night away from home. The research outcomes from this project have continued to be reviewed throughout, however the goal remains to be to predict the onset of respiratory failure so we can initiate treatment earlier, which can ultimately delay the onset of respiratory failure and death.
More infomation & resources: Click here
Duration of project: July 2019 – current
RESPIRATORY PHYSIOTHERAPY FOR CHILDREN WITH NEUROMUSCULAR CONDITIONS AT PCH
Funded by: Neuromuscular WA
Physicians/Researchers involved: Lisa Paterson
Conducted at: Neuromuscular Clinic at Perth Children’s Hospital
Nicola Hanlin and Lisa Paterson provide specialist physiotherapy services and respiratory physiotherapy assessment and management for children attending the neuromuscular clinic at Perth Children’s Hospital. Nicola has been in the Neuromuscular Physiotherapy position since 2020 and Lisa joined the team in April 2022. These positions are funded with thanks from Neuromuscular WA.
Nicola supports children who are newly diagnosed, assisting with initial assessment and the National Disability Insurance Scheme (NDIS) process. Once plans and service providers are in place, she liaises with community therapists and provides resources and ongoing support. Nicola also works closely with community providers supporting children with Duchenne Muscular Dystrophy (DMD) to better understand functional assessments being completed in the community and to strengthen communication between hospital and community services.
Lisa works alongside respiratory medicine consultants during fortnightly neuromuscular clinics, enabling ongoing review and proactive management of respiratory physiotherapy needs. This includes supporting airway clearance, lung volumes and chest wall mobility, with outcome measures such as chest infection frequency, lung function and cough strength guiding treatment.
Children with neuromuscular conditions may develop respiratory muscle weakness that impacts their ability to cough effectively. When required, Lisa introduces mechanical insufflation/exsufflation devices, which support airway clearance by simulating an effective cough. Lung function and cough strength are routinely monitored in clinic, and devices are trialled and adjusted to suit individual needs.
Lisa also supports families through NDIS applications to assist with funding for respiratory equipment for home use and provides ongoing review and optimisation of device settings during clinic appointments.
Both clinicians continue to collaborate with community providers to optimise respiratory health strategies outside the hospital setting, including supporting physical activity and long-term respiratory management for children with neuromuscular conditions. This integrated clinic model helps families be proactive in managing respiratory health and aims to reduce hospital admissions and improve quality of life.
Outcomes from project: A specialist respiratory physiotherapy assessment is completed at the PCH neuromuscular outpatients clinic and when required respiratory physiotherapy treatments and home programs focusing on airway clearance and maintaining chest wall mobility are implemented. Scoliosis correction surgery requires complex planning from the multidisciplinary team and having Lisa onboard to assist in the pre-operative physiotherapy respiratory assessment helps to provide a smoother journey for patients and their families.
Duration of project: April 2022 - current
BIOBANKING SERVICE AT CENTRE FOR MOLECULAR MEDICINE & INNOVATIVE THERAPIES (CMMIT)
Funded by: Neuromuscular WA
Conducted at: Centre for Molecular Medicine & Innovative Therapies
Neuromuscular WA will be contributing to the sustainability of the biobanking service at the Centre for Molecular Medicine and Innovative Therapies (CMMIT) at Murdoch University.
Biobanking refers to the process of collecting, processing, storing, and distributing biological specimens for research purposes. These specimens can include various types of biological materials such as tissues, cells, blood, DNA, and other bodily fluids. Biobanks play a crucial role in biomedical research by providing researchers with access to well-characterised, high-quality samples for studying diseases, identifying biomarkers, developing new therapies, and understanding human biology.
Annually the teams at Murdoch and several others working with patients within the rare disease sector, prepare major grant submissions (e.g. MRFF Frontiers) to establish a pipeline to accelerate bench to bedside translation or to fast-track diagnosis to N of 1 trials (only one patient in the trial as their disease-causing mutation is unique) for amenable/responsive patients. In all these cases, it is essential to have patient cells (or organoids) available to evaluate and validate potential therapies.
Cryo-storage, or cryopreservation, is a method used to preserve cells or tissues at very low temperatures, typically around -196°C using liquid nitrogen. The process involves slowing down or halting all biological activity within the cells, effectively preserving them in a dormant state until they are thawed and revived for future use.
The Neuromuscular WA funds will contribute towards some cryo-storage equipment and liquid nitrogen backups, the costs of consumables for cell collection, propagation and storage, and salaries for lab work and database upkeep of the biobank. Working with Drs May Aung-Htut, Jess Cale and Kelly Martinovich (CMMIT) and Prof Gareth Baynam (Rare Care Team and Perth Children's Hospital), and a cohort of other clinicians, there is a pressing need to be able to source, grow, cryopreserve and study many patient cell lines, some local, others from interstate or overseas and some funds will also be used for shipping/transportation costs for the cell specimens.
It is estimated that costs associated with generating and storing one cell line costs is approximately $1,000. The timing of cell collection is sporadic and following an initial investment of $25,000 for equipment purchase, annual payments will be made to Murdoch to cover the consumable/salary/equipment costs for the previous 12 months.
We are excited that these funds will keep this initiative going for many years.
Duration of project: June 2024 - current
previously FUNDED
How can the experiences of COVID-19 lockdown inform pandemic preparedness for children with rare neurological disorders and their families?
Funded by: Telethon Kids Institute/Perth Children’s Hospital/Neuromuscular WA
Physicians/Researchers involved: Ms Jessica Keeley, Ms Aysha Stroobach, Ms Meg Huston, Dr Adelaide Withers, Dr Andrew Wilson, Dr Jenny Lam, Dr Jenny Downs
Conducted at: Telethon Kids Institute & Perth Children’s Hospital, Teenagers online across Australia
Set out to study the measurement of respiratory health in children and adolescents with a neuromuscular condition, part of this research involved interviews with parents and children to explore the children’s experiences of their health and participation in the community.
It is essential that we learn from the COVID-19 pandemic experiences of children with neuromuscular disorders to be prepared for future pandemic events. The interviews were an opportunity to also ask about their experiences during the pandemic. It aimed to explore the impacts on the mental, physical and social health and well-being of children with neuromuscular conditions and their families.
Children with a neuromuscular condition and their parents were invited to participate in an online interview about their lives during the COVID-19 pandemic in Australia. 17 families participated in this study including nine adolescents with a neuromuscular condition, 16 mothers and four fathers.
Outcomes: Pandemic preparedness lessons can be found in the experiences of children with a neuromuscular condition and their families. For example, the needs of families were highly individual and some families reported how their experience of their child’s complex care needs made them more resilient in a health crisis setting. These perspectives will inform future policies and procedures around preparing for future pandemic events.
Duration of project: 12 months
Limb Girdle Muscular Dystrophy Research at CMMIT
Funded by: The Centre for Molecular Medicine and Innovative Therapeutics/ Neuromuscular WA
Physicians/Researchers involved: Professor Merrilee Needham, Abbie Adams, Bal Hari Poudel
Conducted at: The Centre for Molecular Medicine and Innovative Therapeutics (CMMIT), a joint Murdoch University/Perron Institute research centre
This research will set out to collect biopsy material from patients for cell preparation, propagation and cryogenic storage in the CMMIT biobank storage facility and undertake whole exome sequencing and other studies on some of the LGMD patients.
CMMIT currently has two research projects using the biobanked LGMD cells (fibroblasts).
The first involves whole genomic sequencing (WGS) of a LGMD patient with no confirmed molecular genetic diagnosis. Perhaps unsurprisingly, this resulted in no definitive mutation being identified suggesting the need for further studies. RNA sequencing is the logical next step as this would identify deep intronic mutations that are not detected by WGS.
The second project involved the use of an antisense oligonucleotide (AOs) in an LGMD type 2B patient. AOs have been successfully used to treat Duchenne muscular dystrophy by altering expression of the dystrophin gene through a process called ‘exon skipping’.
In LGMD the idea was to use AOs to target the membrane-bound protein, dysferlin, encoded by the DYSF gene. Mutations in DYSF cause LGMD type 2B and to date, more than 500 pathogenic mutations in DYSF have been reported.
During 2022, 12 biopsies were performed on patients with inherited disorders, including LGMD and familial hypercholesterolemia, thereby expanding the scope and utility of the CMMIT biobank. Biopsies were also taken from malignant hyperthermia patients.
Funds from this grant also contributed to the purchase of a cell incubator, a crucial requirement for CMMIT’s biobanking of patient samples.
Outcomes: Currently there are no drugs available to treat LGMD. Studies showed that AOs leading to the loss of dysferlin exon 32 from the mature DYSF mRNA result in an isoform that retains some dysferlin function. This suggests that AOs can be used as a treatment for some LGMD cases linked to catastrophic dysferlin mutations.
Duration of project: 12 months
Spinal Muscular Atrophy Research
Funded by: TEAM Spencer
Physicians/Researchers involved: Loren Price & Ianthe Pitout
Conducted at: Centre for Comparative Genomics (CCG) Murdoch University
Thanks to the TEAM Spencer funding, Loren completed her thesis “Applications of antisense oligonucleotides (AO) in designing a therapy for spinal muscular atrophy”. This project looked at using antisense oligonucleotides (AOs) targeting exon 7 of the SMA-causing survival motor neuron gene (SMN2).
Following the research developments and investigation undertaken by Loren, the investigation was expanded and continued at CCG and 2016 saw an extension of our support through another scholarship to Ianthe Pitout.
Ianthe continued the investigation of the application of antisense oligomers to modifiers of the SMN2 gene in order to reduce the severity of SMA.
Outcomes from project: By binding AOs to particular motifs of the gene message, it can prevent exon 7 being excluded from the transcript, and therefore produce increased levels of function.
Duration of project: April 2012 – June 2017
Molecular Studies on Antisense Oligo-Induced Exon Skipping
Funded by: Harold & Sylvia Rowell PHD Scholarship
Physicians/Researchers involved: Oliver Dunhui
Conducted at: Murdoch University
Oliver Dunhui completed his thesis describing the application of “exon skipping” strategies for Duchenne muscular dystrophy (DMD) and extending this type of therapy to other genetic diseases. In 2018, Oliver designed and tested antisense oligos to induce Becker muscular dystrophy-like dystrophins that could be used to treat some of the less common DMD mutations.
These oligos were tested in cultured cells and then in in mdx (dystrophic) mice. The aim is to generate a map showing exon skipping strategies to treat DMD mutations between exons 55 and 78, with the various dystrophin validated by data from the mice. The splice switching strategy used in this PhD project to identify dystrophin mutations that could be amenable to exon skipping can also be applied to other neurological or neuromuscular conditions.
Outcomes from project: Oliver participated the 2019 Annual Meeting of Oligonucleotide Therapeutics Society in Munich, Germany. His poster presentation showcasing the DMD project was acknowledged with a poster award. Oliver submitted a manuscript reporting the DMD project to a premier international journal where it is currently being evaluated for publication. The Parkinson’s work is the subject of a provisional patent and will also be submitted for publication.
Duration of project: September 2016 – 2020
Spinraza Treatment for Spinal Muscular Atrophy Patients at Perth CHILDREN'S hospital
Funded by: TEAM Spencer
Physicians/Researchers involved: Nurse Jodi Mann and Dr Maina Kava
Conducted at: Perth Children’s Hospital
In June 2018 the drug Nusinersen (Spinraza) for the treatment of Spinal Muscular Atrophy (SMA) was added to the Pharmaceutical Benefits Scheme (PBS) in Australia. Nusinersen is an antisense Oligonucleotide that works by helping the body to produce more survival motor neuron protein which in turn reduces the loss of motor neuron nerve cells and improves muscle strength.
Due to a lack of funding from the government (which would have meant no Spinraza treatment in WA), MDWA invested money from the TEAM Spencer Fund to allow PCH’s Neurology Department to employ nurse Jodi Mann to work alongside Paediatric Neurologist Dr Maina Kava to start administering the medication in June 2018. The team have several SMA patients receiving Nusinersen at PCH and it remains a very successful program.
Outcomes from project: An incredibly successful Nusinersen program has been set up at PCH with all doses being delivered in their Day Treatment Unit and under minimal oral sedation. Over the past 18 months that this medication has been available to SMA patients, the team have successfully delivered approximately 65 lumbar punctures to patients and seen some amazing improvements in the children’s' motor function and abilities, as well as overall general health. This medication has completely changed the natural disease history of SMA patients and the team has also had to adapt to new treatments and clinical practices to keep up the pace.
Duration of project: June 2018 - 2019
Antisense Oligonucleotide Development for ALS
Physicians/Researchers involved: Dr Rita Mejzini
Brief overview: Antisense oligonucleotides (AOs) are short nucleic acid analogues designed to precisely target disease-related genetic abnormalities at the RNA level. Researchers have developed AOs targeting key genes associated with ALS, including SOD1, TARDBP, STMN2 and FUS. These AOs have been successfully tested in human cells, demonstrating the desired effects on target proteins. However, further evaluation of their impact on disease progression is still underway.
This project has focused on analysing the effects of these AOs in disease-relevant human cell models while also laying the groundwork for future testing in animal models. Key efforts have included processing samples from collaborators studying AOs in patient-derived neurons and identifying appropriate cell and animal models for further testing. Establishing whether AOs effectively engage their targets in living systems is a crucial next step, with planned studies in mouse and other animal cells.
Funding for this project has supported Dr Rita Mejzini’s continued work on this portfolio of antisense drugs. Since the last report, significant progress has been made, including the development of qPCR assays to ensure quality control of iPSC-derived motor neurons.
These assays have confirmed differentiation and enabled characterisation of sALS cell lines. The team has also evaluated FUS-targeted AOs in patient fibroblast cell lines and optimised assays to measure their effects on key proteins, such as EEA1, as well as their impact on the DNA damage response.
Additionally, extensive work has been undertaken to process RNA and protein samples, with qPCR and Western blot techniques used to assess AO effectiveness in motor neuron samples. Solubility assays have also been conducted as part of ongoing SOD1 AO experiments.
The findings from this work are critical in advancing the development of targeted therapies for ALS. By refining testing methodologies and expanding studies into relevant disease models, the research continues to move closer to clinical application, offering hope for future therapeutic advancements.
Outcomes from project: Significant progress has been made in developing antisense oligonucleotides (AOs) targeting ALS-related genes. Key achievements include confirming differentiation of iPSC-derived motor neurons, testing FUS-targeted AOs in patient-derived fibroblast cells and assessing their effects on proteins like EEA1 and DNA damage response. The research is advancing towards clinical application, with further testing in animal models needed to evaluate the full impact on disease progression.
Duration of project: Current
Improving Nutrition in WA Children with Neuromuscular Conditions
Funded by: Harold & Sylvia Rowell Research Project Grant
Physicians/Researchers involved: Dietitians Annie Robertson & Melanie van der Wilk
Conducted at: Neuromuscular Clinic at Perth Children’s Hospital
To provide an opportunity to develop and implement a specialised neuromuscular dietetic service as part of the clinic at Perth Children’s Hospital (PCH). Part of this service involves screening growth parameters for all patients who attend the clinic. Patients are offered a one-on-one appointment if they have been newly diagnosed with an NMC, are starting steroids, or are identified as being at nutritional risk (malnutrition or overweight/obese) on their growth screening.
The goal of this project is to improve the nutrition of all children attending the clinic and demonstrate the need for an ongoing specialised nutrition service for WA children with NMCs.
We aim to fill the gaps within the health services needs of the WA community and ensure plans are put in place as part of best practice clinical care to address the holistic needs of children with NMCs.
Outcomes from project: As the project was so successful, well-received by all patients and their families and demonstrated patient need, from July 2021 PCH began offering the dietician services as a fully-funded service within the NMC clinic.
Duration of project: July 2018 – 2021