A Roadmap for the ANN

Representatives from all around Australia and New Zealand, including clinicians, pathologists, nurses, physiotherapists, researchers and industry and advocacy groups, attended a workshop in Melbourne in March this year. The aim of the workshop was to discuss the aims and goals set by the ANN, develop a list of priorities in light of the successful CRE grant, and determine how these priorities will be implemented. Over the one-and-a-half day workshop there were a number of presentations and passionate and enthusiastic discussion that resulted in a clear path towards achieving significant health outcomes for patients through a coordinated and integrated neuromuscular network.

The workshop participants agreed on a number of important issues to address gaps in patient care.

Click HERE to read the complete Workshop Report.

Diagnosis and Prevention
1 year
* Promote continuous and rapid translation of new tests into standardised best practice Publish list of genetic and pathology tests available – where and who (ANN website and update quarterly)
*Develop and utilise a telepathology network Trial sending slides to Victoria to scan and store in central database
Investigate cost to access and cost per slide to digitise
* Investigate the applicability, including feasibility and acceptability, of NGS-based pre-conception screening for recessive NMDs Undertake a normative pilot study between WA and NSW
Investigate the use of NGS in such preconception carrier screening
1-5 years
* Establish a national biospecimen bank Adapt consent templates from brain bank
Establish how the bank will be managed
Identify funding opportunities for sustainability
Develop standard protocols around specimen collection for muscle, nerve and skin, and primary myoblast culture
* Establish a national neuromuscular diagnostic network Participate in the implementation of the Federal Government National Diagnostic Network for Genetics
* Identify potential ANN interaction with the Human Variome Project (HVP) ANN representative to attend the HVP meeting
* Increase molecular diagnostic success rate to 90% Develop NGS protocols
Develop recommendations for exome sequencing (in consultation with HGSA)

Clinical Care
1-5 years
* Expand national registries Roll out FSH with others to follow
* Enhance communication Education and engage patients, parents and the community
* Develop and promote standards of care and guidelines Develop and implement NMD standard of care
Develop guidelines for the transition from paediatric to adult care
By 2014 all patients will have their clinical information on a USB device
Develop nursing standards of care via the Nursing and Allied Health Steering Group
* Expand the ANN community Engage adult clinicians, as well as professional groups including ANZAN
Expand Myotonic dystrophy into adults

Clinical Trials
1 year
* Enhance clinical trials readiness Develop and validate accurate, sensitive patient relevant outcome measures
Identify training opportunities
* Establish a national clinical trials networks Increase allied health involvement in clinical trials
Provide training for clinical and allied health professionals – establish the Nursing and Allied Health Steering Group and network
Identify a project that could be expanded to additional states
Establish and formalise a training network
Within 5 years
* Establish multi-disciplinary clinics – adult and paediatric – in each state
* Establish new clinical trials centres
* Expand existing trials programs

Research
1-5 years
* Develop a national integrated secure patient database Adopt the Biogenix database for cohort studies
Design smart form for data collection
Publish cohort studies on the website with a call for patients
* Encourage collaborative genotype-phenotype and natural history studies Centronuclear myopathy
Congenital fibre type disproportion
Congenital muscular dystrophy
Duchenne muscular dystrophy
Dystrophinopathies
Facioscapulohumeral dystrophy
Foetal akinesia
Inclusion body myositis
Limb girdle muscular dystrophy
Myotonic dystrophy
Necrotising myopathy
Nemaline myopathy
* Enhance research support Able to support seed funding – possibility of funding bodies to utilise the NHMRC review process to support larger research grants