Get involved with the Australian Aplastic Anaemia and Other Bone Marrow Failure Syndromes Registry

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 aar@monash.edu.

Rare Disease – Support, Education and Training Grant Update

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.


National Disability Insurance Scheme Independent Assessments Abandoned

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.

Medical Research Future Fund (MRFF) Grant Success!

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.

Sneak Peek: Rare Awareness Rare Education (R.A.R.E) Portal for Rare Diseases Logo

Rare Voices Australia (RVA) is excited to officially launch the logo for the Rare Awareness Rare Education (R.A.R.E) Portal for rare diseases! The portal is currently in development and we anticipate that it will be launched in late 2022. Scroll down to view the logo.

Background

RVA is leading the collaborative development of the R.A.R.E Portal. In line with the National Strategic Action Plan for Rare Diseases (the Action Plan), the portal will be an accessible multi-purpose website containing information and resources for rare diseases that are customised for the Australian context.

The R.A.R.E Portal is one of the key deliverables of the Action Plan:

Action 2.1.2.1. Develop an accessible multi-purpose digital repository, incorporating elements targeted at the workforce that supports people living with a rare disease. With access to adequate information, health care and social support professionals will be equipped to support people living with rare disease and their families to navigate health, disability and other systems.

The website will be a dynamic repository of rare disease information, state-and territory-based care and support services, and research and clinical trials information. It will highlight the gaps across all facets of rare disease care management and gaps in our basic understanding of specific rare diseases. The portal will guide the way forward for evidence-based policy and strong Australian-based research and innovation into all rare diseases.

RVA will commence a multi-stakeholder consultation process to develop the portal shortly. As part of this, we will be reaching out to key stakeholders, including RVA Partner organisations.

The Action Plan demonstrated what the rare disease sector can achieve when we encourage collaboration and work as one unified voice. We need to continue building on this momentum to achieve the best possible outcomes for Australians living with a rare disease.

R.A.R.E Portal logo

Reflecting the Action Plan’s collaborative development, the R.A.R.E Portal will be ‘developed by the rare disease sector, for the rare disease sector.’ The use of a single bird in the logo symbolises the coming together of all stakeholders to develop the portal with a unified voice. The colour palette remains in line with RVA’s branding as the peak body for Australians living with a rare disease. While RVA is leading work on the R.A.R.E Portal, the website will be informed by extensive stakeholder consultation. Once the site is launched, the sector will need to work together to raise awareness of the portal.

R.A.R.E Portal updates

RVA will circulate updates about the R.A.R.E Portal as it develops.

Newborn Bloodspot Screening Update: Changes to the Assessment Process for Nominated Conditions

The Department of Health has announced changes to the assessment process for nominated conditions conducted under the Newborn Bloodspot Screening (NBS) National Policy Framework (the Framework). Under the Framework, anyone in Australia can nominate a condition to be added or removed from NBS programs.

Moving forward, as stated on the Department of Health’s website:

When the Department receives a new application it will conduct an initial review and submit its findings to the Chief Medical Officer (CMO) for consideration. Should the CMO agree that the condition warrants a detailed review, he will advise the Health Chief Executives Forum (HCEF) and refer the assessment firstly to the NBS Program Management Committee for review against the population screening criteria. If this assessment is positive, it will then be referred to the Medical Services Advisory Committee (MSAC) for a Health Technology Assessment. Following receipt of the MSAC recommendation, the CMO will advise the HCEF of the outcome. The states and territories will then make decisions regarding implementation.”

Rare Voices Australia (RVA) has been highlighting the need for increased sustainability, equity and transparency for NBS for some time. RVA has conducted targeted advocacy at both the Commonwealth and state levels. Over the past nine months, RVA has engaged with the Hon. Greg Hunt MP, state Health Ministers, the national NBS Program Management Committee, state NBS programs and relevant rare disease organisations to ensure that this essential and successful screening program can evolve with advances in medical technology and provide equitable and consistent access to evidence-based screening for all Australian babies.

RVA welcomes the Department of Health’s reform which we believe will give the assessment component of the NBS program ongoing sustainability and encourage more timely implementation at a state level. RVA believes this will increase both equity and transparency in NBS programs. We are also pleased to see that the existing nomination process has been retained, enabling any interested party to put forward a nomination for assessment.

We thank Minister Hunt for his leadership on and commitment to this critical issue. RVA would also like to thank our rare disease partner organisations for working in partnership with us. We also thank states and territories for their ongoing engagement and commitment to NBS and look forward to working with them on timely implementation of future recommendations arising from this process.

RVA has arranged a meeting with the Department of Health to discuss the impact of these changes for all stakeholders and will share further information as it becomes available.

Click here to read more about NBS on the Department of Health’s website.

Background

The Framework is designed to support the continued access of the NBS program by providing a robust, transparent process for national decisions on the conditions screened as part of the NBS program. RVA strongly supported the endorsement of the Framework in 2018, as it had the potential to further develop NBS in a consistent and equitable way across Australia. Unfortunately, despite the Framework’s many strengths, its implementation has been greatly impacted by funding gaps, resulting in uncertainty, inequity and delay across the country. This is clearly highlighted in the National Strategic Action Plan for Rare Diseases:

2.2.2.2. Address urgent funding gaps associated with the effective implementation and sustained success of the Newborn Bloodspot Screening (NBS) National Policy Framework.

RVA’s advocacy for increased sustainability, equity and transparency

RVA has been highlighting these issues with the NBS for some time. In recent times, RVA has conducted targeted advocacy at both Commonwealth and state levels. We have communicated regularly with Minister Hunt’s office and Health Ministers’ offices in all states/territories and with other key stakeholders.

Andrew Bannister wins the Masonic Care WA/Freemasons WA Community Service and Volunteering Award and the People’s Choice Award

Rare Voices Australia (RVA) congratulates rare disease advocate, Andrew Bannister, who has been announced as the winner of the Masonic Care WA/Freemasons WA Community Service and Volunteering Award at the Young Achievers Award WA. Andrew also won the People’s Choice Award. Thank you to everyone who voted for Andrew.

RVA thanks the Hon. Matthew Swinbourn MLC, a long-time rare disease champion, for his attendance and support of Andrew at the awards ceremony. We also thank Dr Kristen Nowak, a member of RVA’s Scientific and Medical Advisory Committee, for representing RVA at the event.

Nominees in the Masonic Care WA/Freemasons WA Community Service and Volunteering Award category are community service workers or young volunteers who, through exceptional leadership, demonstrate initiative beyond what is expected of them.

Andrew was born with several rare brain malformations, including Periventricular Nodular Heterotopia (PVNH). In 2020, he organised 35 landmarks in Australia and around the world to be illuminated for Rare Disease Day. He continued his amazing work with illuminations for Rare Disease Day in 2021. Andrew is also the current Australian Paracycling Road Series Champion.

Australian Clinical Trials Alliance: Have your say on secondary use of data in clinical research

Interested in secondary use of data for Australian research?

Invitation to take part in Australian Clinical Trials Alliance’s (ACTA) online webinar and virtual consultation workshop on behalf of the Australian Research Data Commons (ARDC).

Response requested by 1 June 2021.

ACTA is working with the ARDC to gather insights and feedback about the Health Studies Australian National Data Asset (HeSANDA).

The HeSANDA initiative aims to build a national collection of data generated through Australian health research and support appropriate and ethical sharing of the data with other Australian researchers. By supporting secondary use of data from health research, HeSANDA aims to stimulate new research ideas, increase the impact of health research, increase the benefits of investment in health research, and ultimately improve the health and wellbeing of people in Australia.

As a first step, the initiative is focusing on data and information collected from investigator-initiated clinical trials.

We are inviting people who are involved in clinical trials research in Australia to attend a 90-minute virtual consultation workshop to provide views on how a national data asset could be designed, built, and implemented in Australia.

We are interested in hearing from:

1: researchers involved in the design and/or conducting of clinical trials
2: people who work for a clinical trials/research organisation
3: consumers (patients, carers or people who use healthcare services) who are or have been involved in the design and/or conducting of clinical trials
4: clinical trial participants (people who have taken part in, are taking part in or are considering taking part in a clinical trial)

Be informed before providing feedback

We ask that everyone providing feedback through the consultation process reads the attached background paper.

You can also register to attend a 1-hour online webinar about the HeSANDA initiative at 3-4pm AEST on Tuesday 8 June. The webinar will provide a brief background on secondary data use and the proposed approach to designing a national data asset to support secondary use of data from clinical trials in Australia. The webinar will provide a useful background for anyone attending the consultation workshops and will be of particular value for consumers.

Have your say

Once you have read the background paper and/or attended the online webinar, you can have your say on the HeSANDA initiative in one of two ways:

1. Attend a 90-minute virtual consultation workshop in June 

We are running four sessions: two will focus mainly on issues for consumers/trial participants and two will focus mainly on issues for
researchers. Choose from one the following sessions. Register here.

Consumers/Research participants
16 June from 2pm – 3:30 pm (AEST)
21 June 11am – 12:30pm (AEST)

Researchers/clinical trial organisations
17 June 4:30pm – 6:00pm (AEST)
22 June 5pm – 6:30pm (AEST)

Workshop numbers are limited. If you work for a clinical trials organisation, we recommend only one representative attend the virtual workshop.

Consumers and research participants who join the consultation will be reimbursed for your contribution. ACTA will discuss the details with you further after your EOI has been received.

2. Complete the online survey

Output
Information from the consultation process will inform the next stage of planning for the HeSANDA initiative. For more information, see the background paper.

Questions
If you have any questions about the consultation process, please contact Fiona Nemeh at ACTA: fiona.nemeh@clinicaltrialsalliance.org.au

United Nations General Assembly Resolution on Persons Living with a Rare Disease and their Families

The global community of persons living with a rare disease, their families, and civil society organisations, with the support of UN member states, are calling for the adoption of the upcoming United Nations General Assembly (UNGA) Resolution on “Addressing the Challenges of Persons Living with a Rare Disease and their Families” (Resolution on PLWRD). This campaign is being led at a global level by the NGO Committee for Rare Diseases, Rare Diseases International and EURORDIS – Rare Diseases Europe.

Brief summary

  • The UNGA Resolution on PLWRD will be presented through the Third Committee, which commences in September 2021. Learn more about the UNGA Resolution process here.
  • As one of the 193 nation-states of the UN, Australia will have the opportunity to support the adoption of the UNGA Resolution on PLWRD.


Significance of a UNGA Resolution

A UNGA Resolution would bring visibility to PLWRD within the UN system as much as in its member states at a national level. It would act as a catalyst for actions and policies, both at the global and national level in countries around the world.

Key asks of the Resolution on PWLRD

The UNGA Resolution on PLWRD is made up of five key asks that are consistent with a range of existing initiatives, policies and declarations across different areas including:

  • Protection of human rights
  • Fight against stigma, discrimination, exclusion, and marginalisation
  • Disability
  • Vulnerability
  • Rights of children and rights of women
  • Universal Health Coverage
  • Agenda 2030, Sustainable Development Goals, the commitment to “Leave no one behind”
  • Social inclusion

Five key asks

  1. Human rights and inclusion: participation and inclusion of persons living with a rare disease and their families in society and respect of their human rights

  2. Appropriate care: improvement of health and social outcomes with the appropriate care and support within existing resources

  3. National strategies: promotion of national strategies and measures to leave no one behind

  4. Recognition in the UN system: integration and visibility of the rare diseases issue into UN agencies and programmes

  5. Monitor progress and implementation: regular reports by the UN Secretariat to monitor the implementation and progress on the status of PLWRD

Read about these key asks in more detail here.

Rare Voices Australia’s (RVA) advocacy for a UNGA Resolution on PWLRD

RVA has written a formal letter to the Hon Greg Hunt MP’s office to inform the Minister’s office about the upcoming UNGA Resolution on PWLDR. We have requested that Australia endorse the UNGA Resolution on PLWRD, in alignment with the Australian Government’s demonstrated commitment to rare diseases.

Additionally, RVA will be disseminating information in our monthly e-newsletter and across our social media channels to help spread the word about the UNGA Resolution on PWLDR.

How you can help

We welcome all stakeholders in the rare disease sector to help amplify this message by sharing RVA’s posts on social media and this article with your network.

You can also access this toolkit and download a range of assets to use in your advocacy.

Next steps

The aim is to the get the UNGA Resolution on PWLDR adopted by the 193 member states of the UN at the General Assembly in their session which commences in September 2021. The hope is that the adoption of this UN Resolution is achieved by October or November 2021.

MRFF Rare Cancers Rare Diseases Unmet Need grant open

A new Medical Research Future Fund (MRFF) Rare Cancers Rare Diseases Unmet Need grant has opened.

Applications to this grant opportunity must propose research that addresses one of the seven Streams of research outlined in the grant. Click through for more information. 

The close date and time is 18 August 2021 at 5pm (ACT local time).

Click here for more information.