Research and Trials

For too long neuromuscular diseases have had few available therapies. Historically this has been due to lack of pharmaceutical investment, the slow emergence of the science behind that pathology and limited availability of biomarkers.

This is now changing with the emergence of gene therapies, a better understanding of the mechanisms of neurodegeneration, the emergence of bioscience and biotechnology organisations, and increased government support for treatment costs.

Individually these diseases are rare, however collectively they are not.  Spinal muscular atrophy and Pompe Disease are good examples of neuromuscular diseases where therapies are now approved in many countries.  There are also many others where research is leading to promising therapies.  Scroll down to find out more about advances currently taking place.

Why NCF?

Royal Brisbane and Women’s Hospital and The University of Queensland Centre for Clinical Research have been involved in more than 10 MND trials across phases 1-3. These institutions are currently participating in one active MND study, with three more scheduled to commence in early 2024.  They are also home to two inclusion body myopathy studies, and are part of a larger, multinational phase 3 study commencing shortly. Three muscular dystrophy sutdies, unique to Queensland, are also about to start. Brisbane is Australia’s centre for Pompe Disease research and a new trial to expand on an approved therapy will come on line in 2024.

Photo: Meeting with Spinogenix team from USA regarding MND Trial SPG302. Pictured are Dr Po Yang (back right), Dr Cassie Oxenford (front left), and Sue Heggie (middle right), the work of all of whom is funded by Nerve Connection Foundation.  Foundation originator, Dr Robert Henderson is seated opposite Dr Yang.

Meeting of the Nerve Connection Team

Understanding the studies

There are several phases in clinical trials.  Usually, when a drug is discovered, it has to be determined whether it is safe and tolerable in humans (phase 1).  Sometimes this requires monitoring and observation over lengthy periods.  If all goes well, the optimum dosing then needs to be determined to achieve possible efficacy in phase 2.  In phase 3 the drug needs to be tested on a larger number of people with the disease and compared with a placebo.  Less commonly a drug is clearly safe and works, and some of these steps can be bypassed.  Different means of drug delivery make some drug trials harder.  Diseases affecting the brain mean injections of drugs into the spinal fluid.  Gene therapies are different again and have specific methods of administration.  Every trial is different, the only constant being the enormous cost involved in developing understanding and cures for these devastating diseases.

Motor Neurone Disease (ALS)

Motor Neurone Disease (also known as amyotrophic lateral sclerosis) is a devastating disease caused by death of motor neurones. Approximately 6-8 per 100,000 Australians have MND with an average survival timeframe of 2-3 years. The cause is unknown, however researchers are aware of genetic links, as well as the intersection of concepts such as aging, metabolism, neuroinflammation and protein aggregation.  Disease variability is a real challenge for scientists, which has historically resulted in limited drug development.  Understanding the underlying mechanism may be the key to development of effective therapies, which requires significant funding for research and clinical trials. 

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Cardinals Phase 2

Cardinals is a  Phase 2, randomized, double-blind, placebo-controlled, parallel study to assess the efficacy, safety, tolerability, PK, and biomarker effects of PTC857 in adult subjects with motor neurone disease.

Brief: Utreloxastat (PTC857), a novel 15‐lipooxygenase inhibitor is designed to target oxidative stress in metabolism. Patients will receive a placebo-controlled oral agent for 24 weeks, then an open label oral agent for 28 weeks.

For more information see:


Lighthouse 2

Lighthouse 2 is a randomised double-blind, placebo-controlled phase 3 trial of Triumeq in motor neurone disease.

Brief: Triumeq acts on retroviral remnants of human endogenous retroviruses in our DNA and reduces their expression. Patients will receive a placebo-controlled oral agent for 24 months, and then an open-label oral agent extension.

For more information see:

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REAL Trial

REAL trial is a Phase 2 study assessing the safety and preliminary efficacy of Fasudil (Bravyl) in patients with motor neurone disease.

Brief: Fasudil blocks Rho kinase which is involved in the shape and movement of cells. Patients will receive a placebo-controlled oral agent for 6 months.

For more information see: 

SPG302 Research team


Brief: SPG302 is designed to increase the number of synapses in the motor nerve cells. This study is a Phase 1 study where 8 motor neurone disease patients at Royal Brisbane and Women’s Hospital will receive the oral drug.

For more information see:

Inclusion Body Myopathy

Inclusion body myopathy (also known as myositis) causes progressive muscle wasting with significant disability and an early death. Approximately 3-4 of every 100,000 people over 50 live with IBM. The cause is believed to be an overlap between immune mechanisms and neurodegeneration. There is no effective therapy to date. 

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ABC008-IBM-201 is a double-blind, placebo-controlled phase 2/3 study investigating subcutaneous injections of ABC008 to treat inclusion body myositis.

There are also ongoing patients participating in a PET substudy of the phase 1 research. 

Brief: ABC008 potently and selectively depletes highly cytotoxic T cells which attack and destroy muscle tissue in IBM without affecting protective T cell populations.

For more information see:

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Optimism in IBM

Optimism in IBM is a double-blind, randomised, controlled phase 3 trial (dbRCT) of Sirolimus in patients with inclusion body myositis.

For more information see:

Myotonic Dystrophy

The area of genetic muscle diseases includes many diseases that usually manifest in adulthood. In general they consist of abnormal gene expression, or the accumulation of toxic ribonucleic acid or protein. Myotonic dystrophy is caused by a gene repeat expansion of DMPK where the abnormal drug metabolism and pharmacokinetics ribonucleic acid is toxic.

FSH muscular dystrophy is due to the abnormal expression of the DUX4 gene which is toxic to muscle cells. 

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ARO-DM1 is a phase 1/2a double-blind, placebo-controlled, dose-escalating study to evaluate the safety, tolerability, pharmacokinetics and pharmacodynamics of single and multiple ascending doses of ARO-DM1 compared with a placebo.

Brief: ARO-DM1 is designed to reduce expression of the myotonic dystrophy protein kinase gene.

For more information see:

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VX-670 is a phase 1/2, randomized, double-blind, placebo-controlled single and multiple dose escalation study evaluating the safety, tolerability, pharmacokinetics, and pharmacodynamics of VX-670 in adult subjects with myotonic dystrophy type 1.

For more information see:

Limb Girdle Muscular Dystrophy Type 2i

Limb-girdle Muscular Dystrophy conference in Rome

Limb Girdle Muscular Dystrophy Type 2i - Rome Conference

The limb-girdle muscular dystrophy clinical trial for type 2i will commence soon at the Royal Brisbane and Women’s Hospital and The University of Queensland Centre for Clinical Research (the only sites in Australia).  This is the first trial of its kind for muscular dystrophies, which accounted for the enthusiastic atmosphere at the recent international meeting held in Rome.  Dr Robert Henderson and Sue Heggie (whose work is supported by Nerve Connection Foundation) were active participants in the seminar.

Pompe Disease

One disease for which the mechanism around abnormal gene expression or the accumulation of toxic ribonucleic acid is Pompe Disease where there is an enzyme deficiency leading to an accumulation of glycogen in the muscle cell. Enzyme replacement therapies have been developed with Nexviazyme the currently approved therapy based on clinical trials.  One such trial was COMET, which was hosted in Brisbane by the Wesley Hospital.  There is still a vital need for more effective delivery of the therapy to the muscle cells, as well as research into the potential for gene therapies.

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