Author: Sarah Cannata

Rare Voices Australia (RVA) welcomes the formation of the first Parliamentary Friends of People with Rare and Undiagnosed Diseases in Western Australia (WA)!

The Hon Matthew Swinbourn MLC, Hon Donna Faragher MLC and Hon Stephen Pratt MLC have come together to increase awareness about rare and undiagnosed diseases in WA. The non-partisan Parliamentary Friendship Group aims to provide opportunities for Members of Parliament to learn about the needs of people with rare and undiagnosed diseases, as well as the challenges and opportunities involved in providing care and support to them. Click here to learn more and here to watch the Hon Matthew Swinbourn MLC announce the formation of the Group in the Parliament of Western Australia.

RVA looks forward to working with the Parliamentary Friendship Group on the issues that impact those living with a rare disease, their families and carers, including WA’s response to the priorities, actions and implementation steps outlined in the National Strategic Action Plan for Rare Diseases.

Rare Voices Australia (RVA) welcomes the Western Australian (WA) Government’s commitment to begin the implementation process to add congenital adrenal hyperplasia (CAH) to WA’s Newborn Bloodspot Screening (NBS) Program. Phase one of implementation involves the establishment of the required staffing and equipment, in accordance with the national recommendation endorsed by Australian Governments, to ensure the successful rollout of quality and safe screening of infants for CAH. Today’s announcement is a positive step forward for RVA Partner, Congenital Adrenal Hyperplasia Support Group Australia, and the CAH community. RVA urges the WA Government to prioritise the timely completion of this initial implementation phase so that the screening of babies can commence as soon as possible.

Additionally, the Hon Roger Cook, WA’s Minister for Health, has announced funding for a pilot project that will enable NBS for spinal muscular atrophy (SMA) following preparation of the required equipment, training of staff, development of testing protocols and clinical and care pathways. This announcement is encouraging for RVA Partner, SMA Australia, and the SMA community.  

RVA welcomes both announcements and thanks the WA Government for their ongoing engagement with RVA regarding this issue. NBS is an important and life-changing program that screens for certain rare genetic conditions and metabolic disorders. As outlined in the National Strategic Action Plan for Rare Diseases, early diagnosis enables the best clinical care, treatment options, access to services, peer support, increased reproductive confidence and access to participation in clinical trials.  

As with the Commonwealth and other State Governments, RVA will continue to engage with the WA Government to ensure the increased sustainability, equity and transparency of the NBS Program across Australia.

Click here to read the WA Government’s media release.

Thanks to the more than 250 Australians with bone marrow failure syndromes who have registered with the Australian Aplastic Anaemia and Other Bone Marrow Failure Syndromes Registry (AAR), researchers are getting a better picture of these important rare conditions in Australia.

What are bone marrow failure syndromes?

A healthy bone marrow is vital to produce red blood cells (to carry oxygen), white blood cells (to fight infection) and platelets (to help form blood clots). Many factors affect blood cell production, but inherited, immune and other bone marrow failure syndromes (BMFS), including aplastic anaemia (AA), can lead to severe anaemia and risk of infection and bleeding. While these syndromes are rare, they are serious and may be life-threatening.

Making the correct diagnosis is essential to inform treatment options and counselling. The term AA usually refers to the acquired, immune-mediated disease, however, there are also a whole range of inherited BMFS (IBMFS) that can mimic AA. Both AA and IBMFS are rare conditions but are increasingly recognised as distinct entities, especially now with greater access to molecular diagnostic tests. It is also recognised that people with BMFS, both inherited and acquired, are at an increased risk of developing haematological cancers, and the level of risk varies according to the particular subtype of BMFS.

Depending on the specific diagnosis and an individual’s situation, treatment may include immunosuppression, haematopoietic stem cell transplantation, or other therapies. In the setting of very low blood counts, support with red blood cell and platelet transfusions, and antibiotics or growth factors to prevent infection, may be required. New treatment options are urgently needed to improve outcomes.

Why do we need a registry?

The National Strategic Action Plan for Rare Diseases acknowledges the key role that registries play in linking people living with a rare disease with clinical trials. Conducting clinical trials for rare conditions is difficult, and registries play very important roles in collecting and analysing data to understand the clinical journey, treatment provided, and long-term outcomes for people with rare diseases, including AA and BMFS. They can provide a national and international network within which to work together to share information, identify variation in clinical practice, and improve care delivery. Registries can also serve as important research infrastructure for clinical trials and biobanks, as described below.

What is the AAR?

The AAR is managed by Monash University as a collaboration with more than 40 participating centres around Australia, and is exploring the potential to expand to New Zealand sites. The registry is part-funded by Maddie Riewoldt’s Vision, a charitable foundation (click here for more information).

The aims of the AAR are to:

• Better define the incidence of AA and IBMFS in Australia
• Provide information on the range of diagnoses and of treatment strategies being employed
• Explore factors influencing clinical outcomes
• Better define optimal clinical management
• Inform and inspire future research in this area

The AAR is a member of the National Alliance of Rare Disease Registries. More than 250 participants, both adults and children, are already registered. Participation is voluntary, and the research is observational only – it does not change a person’s clinical care or treatment in any way. Participants can leave the registry at any time without affecting their treatment or care. Data are collected through routine clinical visits and do not require the collection of any extra non-clinical information; the data are held securely and only used for ethics committee-approved research.

More information is available at: aaregistry.org.au

The AAR is also conducting the DIAAMOND clinical trial for people with severe AA to find out if a new therapy increases blood cell production and reduces the need for blood transfusions and other supportive care, including hospital admissions. This study is funded by the Medical Research Future Fund (MRFF). More information is available here: aaregistry.org.au/clinical-trials

The AAR, in collaboration with Biobanking Victoria has also recently been awarded funding from Maddie Riewoldt’s Vision to support the Australian Marrow Failure Biobank, which will be a new national resource to support research in this important field.

Why get involved?

The benefit of participating in the AAR is to help researchers learn more about AA and IBMFS in Australia. Currently there are almost no Australian data on how many people are living with these conditions, their treatment, or clinical outcomes. Information from the registry is an invaluable resource to understand current practice and to support research to discover new treatment options which may improve outcomes.

The research may also enable improved management that could benefit some participants now, as well as future patients with AA and IBMFS.

Thanks to everyone who is already supporting the AAR!

If you’re living with AA or IBMFS and are interested in getting involved, please speak to your treating clinician. You can contact the registry directly by phone on 1800 811 326 or at [email protected].

Rare Voices Australia (RVA) is excited to be a member of the consortium, led by the University of New South Wales (UNSW), that was a recipient of the Australian Government’s Rare Disease – Support, Education and Training Grant. Click here to read the Government’s media release.

The $1.9 million in funding will transform Australia into a global leader in the provision of rare disease awareness, education, support and training via the RArEST (Rare Awareness, Education, Support and Training) Project. Click here to read UNSW’s media release about the announcement.

Congratulations to RVA Partner, Childhood Dementia Initiative, for being awarded $185,000 for the National Childhood Dementia Awareness, Support and Education Project.

We also congratulate the Australian National University for receiving $198,000 for work on a project that will develop a diagnostic reasoning tool to support recognition of rare diseases with different presentations, based on three indicative diseases – myositis, primary immunodeficiency disorder and sarcoidosis.

This Government funding will contribute to the implementation of the National Strategic Action Plan for Rare Diseases across all three Pillars (Awareness and Education; Care and Support; and Research and Data).

Funding of $1 million had already been provided for the development of the Rare Awareness Rare Education (R.A.R.E) Portal. This multi-purpose website will include information and resources for rare diseases that are customised for the Australian context. Click here to read more.

RVA thanks the Australian Government and the Hon Greg Hunt MP for their ongoing support of people living with a rare disease.

Rare Voices Australia (RVA) welcomes the Federal Government’s announcement that National Disability Insurance Scheme (NDIS) independent assessments will not proceed following the Disability Reform Ministers’ Meeting. We also welcome all state and territory ministers agreeing to “work in partnership with those with lived disability experience on the design of a person-centred model.” Read Senator the Hon Linda Reynolds’ CSC, Minister for the NDIS, media release in full.

We thank Senator Reynolds’ office for meeting with RVA recently in Canberra and for listening to our thoughts about the NDIS and our concerns about independent assessments.

In our submission to the Joint Standing Committee on the NDIS Parliamentary Inquiry into Independent Assessments, RVA stated that we do not “support changes that use a ‘one size fits all’ approach and are not person-centric. We do not support changes that make the process less transparent, and that cannot be reviewed or challenged by individuals and their families. We therefore do not support the use of independent assessments for rare disease candidates.” RVA also lodged a submission into the National Disability Insurance Agency’s (NDIA) public consultation: access and eligibility policy with independent assessments.

RVA looks forward to continuing our ongoing discussions with Senator Reynolds and the NDIA to ensure that the voice of people living with a rare disease and their families and carers, continues to be heard.

Rare Voices Australia (RVA) congratulates the 17 researchers who, through the Genomics Health Futures Mission, will receive a share of $46.5 million for genomics research, which will support health clinicians to identify genetic disorders and diagnose rare diseases faster. Click here to read the Hon Greg Hunt’s media release.

In line with the National Strategic Action Plan for Rare Diseases’ Research and Data Pillar, RVA supports the need for high quality collaborative research that is person-centred and positively impacts the lives of Australians living with a rare disease.

As part of RVA’s commitment to a person-centred approach to research, we welcome partnerships with rare disease researchers. RVA can provide both rare disease policy and consumer expertise. Our recent contributions to successful grant applications are testimony to this research co-design.

If you are a researcher with an interest in rare disease diagnostics (including genomics), health technologies, precision medicine, fundamental discovery, or care and support, please see RVA’s Research Partnerships Guidelines for more information.