Information for patients

The ADAPT-CMD team are made up of scientists and clinicians in genetic muscle disease around Australia.

The hospitals currently involved are:

• The Royal Children's Hospital
• Monash Health
• Women and Children’s Hospital
• The Sydney Children’s Hospital Network
• Children’s Health Queensland

Western Australian patients interested to be involved in research, please contact A/Prof Gina Ravenscroft at the Harry Perkin's Institute of Medical Research.

The ADAPT-CMD was established to help develop new and more effective treatments. To do this, we first applied to the government for our funding- this is called a Medical Research future Fund (MRFF) grant. This, unfortunately, is very competitive and we were lucky enough to secure $2.5 million over five years to establish this national network to study muscle disease.

Research projects will often start in the laboratory using animal models before moving to human studies. The scientists in our team will be performing various research projects in muscle disease which include animal studies as well as and patient-derived cells models.

If you are a patient with genetic muscle disease and would like to be involved, there are two studies you could participate in - The National Muscle Disease Bio-databank (NMDB) and The Australian Neuromuscular Disease Registry (ANMDR).

Please see below to read more and how to register your interest.

Note, if you are not treated at one of the above hospitals you can still be involved in this research.

National Muscle Disease Bio-databank (NMDB)

The National Muscle Disease Bio-databank (NMDB) (HREC 90530) was established in 2022 to facilitate research into genetic muscle diseases. The NMDB housed at Murdoch Children’s Research Institute will store data, blood test and skin biopsy samples from children across Australia with genetic muscle diseases.

If you provide your consent to this research, scientists will use samples to generate patient-derived stem cell models. In 30 days and daily feedings, these stem cells can turn into muscle cells. Experiments will be conducted on the cells to test functional output and new drugs in the lab.

The bio-databank aims to advance our knowledge of disease mechanisms for example how muscle is affected and develop new and better treatments to fast-track discoveries into clinical trials.

Find out more about the National Muscle Disease Bio-databank (NMDB)

Australian Neuromuscular Disease Registry (ANMDR)

The Australian Neuromuscular Disease Registry (ANMDR) (HREC 54969), was established in January 2020. The ANMDR is the only active national registry capturing data on Australian subjects with genetic neuromuscular disorders.

We collect clinical, genetic, and personal data on Australian children and adults living with neuromuscular disorders. Our goal is to facilitate clinical research, best practice care and service provision. Once you have provided consent, your initial dataset is collected by one of our team members. We update patient information for registrants with Spinal Muscular Atrophy (SMA) 6 monthly and annual updates for subjects with other neuromuscular disorders.

The ANDMR is recognised is a leader in the registry field. Using the data collected we can ascertain patients for studies and therapies and provide post-exposure safety and efficacy monitoring.

Find out more about the Australian Neuromuscular Disease Registry