Australasian Neuromuscular Network Congress

Several of our staff recently attended the Australasian Neuromuscular Network Congress which was held this year at the Sunshine Coast. It was a chance to hear from researchers and clinicians who devote their time to finding better outcomes for people with neuromuscular conditions.

New Research

With lots of new research going on, it’s more important now than ever to have a precise diagnosis and to be included on a patient registry.  The Australian Neuromuscular Disease Registry (ANMDR) is an Australia-wide registry of people diagnosed with a neuromuscular disease. This information can help clinicians and researchers better understand these conditions, attract clinical trials to Australia and help facilitate recruitment to clinical trials.

Genetic Testing and Clinical Trials

Genetic testing has come a long way in recent years, so if you do not have a precise diagnosis, you might like to consider the possibility of genetic testing to find out. You should ask your doctor or specialist about your options for getting genetic testing.

Our increasing understanding of genetics has led to some significant advancements in gene therapies and genome editing in recent years. There are clinical trials underway for many different neuromuscular conditions and already several gene therapies available for the treatment of Spinal Muscular Atrophy.

Newborn Screening

The Queensland Government has now expanded newborn screening to include screening for Spinal Muscular Atrophy. This early diagnosis will enable early or even pre-symptomatic treatment for babies born with SMA. This will vastly improve their prognosis, allowing these babies to reach milestones that would have been otherwise unobtainable.

Standards of Care

There is hope that more effective treatments will become available for other neuromuscular conditions too. In the meantime, condition specific Standards of Care are being developed and updated to ensure that all people living with these conditions have access to appropriate care.

Feel free to contact us on our Infoline – on 1800 676 364.