Category: News

To assist with implementation of the Australian Government’s National Strategic Action Plan for Rare Diseases, Rare Voices Australia (RVA) received $1 million over three years from 1 July 2021 to 30 June 2024 to lead the collaborative development of the Rare Awareness Rare Education (RARE) Portal and other education activities. In addition to facilitating the extensive multi-stakeholder consultation process to progress RARE Portal development, these funds have enabled RVA to consult with peak bodies and other experts to produce several education materials, including resource collections and webinars for the following priority populations identified in the Action Plan:

• The Aboriginal and Torres Strait Islander community
• The multicultural/culturally and linguistically diverse community
• The regional, remote and rural community

Resource collections, reports and webinars

Resource collections, reports and webinars for each priority population listed above can be downloaded from RVA’s Online Education Portal via the links below.

• RVA Education: Rare Disease Resources for the Aboriginal and Torres Strait Islander Community
• RVA Education: Rare Disease Resources for the Multicultural Community
• RVA Education: Rare Disease Resources for Regional, Rural and Remote Communities

Webinars

• RVA Education: Developing the ‘Rare Disease Resources for the Aboriginal and Torres Strait Islander Community’ Collection
• RVA Education: Developing the ‘Rare Disease Resources for the Multicultural Community’ Collection
• RVA Education: Developing the ‘Rare Disease Resources for the Regional, Rural, and Remote Community’ Collection

These webinars are intended for peak bodies, organisations, and health care professionals who work with the above communities, RVA’s Partner groups/organisations, and rare disease groups/organisations that wish to engage with the priority populations listed above.

Please note: you will need to register on RVA’s Online Education Portal if you have not already done so to watch the webinars.

Acknowledgements

RVA thanks the National Aboriginal Community Controlled Health Organisation (NACCHO); the Australian Alliance for Indigenous Genomics; the Federation of Ethnic Communities’ Councils of Australia (FECCA); the Australian Multicultural Health Collaborative; and the National Rural Health Alliance for consulting with RVA to inform these education materials.

On 10 November 2023, Health Ministers from all Australian governments met to discuss a range of important issues for Australia’s healthcare system. The purpose of these Health Ministers’ Meetings is to provide leadership and facilitate joint decision making on health issues of national importance.

As the national peak body for Australians living with a rare disease, Rare Voices Australia (RVA) welcomes the post-meeting Communique regarding several issues relevant to Australians living with a rare disease, including newborn bloodspot screening (NBS). Regarding the expansion of the NBS Program, the Communique reads:

“Ministers agreed on the Newborn Bloodspot Screening decision-making pathways and priority actions. Ministers agreed to consider adding more conditions to the screening program, and that States and Territories will work with the Commonwealth to ensure the program is sustainable.”

RVA is encouraged by the heightened awareness of the profile and importance of NBS and the ongoing commitments made between the Commonwealth, states and territories. Read the Communique in full on the Department of Health and Aged Care’s website.

Several Medical Research Future Fund (MRFF) research grant opportunities have recently opened that are relevant to rare disease. The opportunities are listed below.

Medical Research Future Fund Clinical Trials Activity Grant Opportunity

In this new round, the Health and Medical Research Office has recognised the need to fund novel clinical trial designs, including n of 1 clinical trials, which are important for the trialling of new and novel therapies for rare disease. Rare disease is a focus of streams 1 and 2 in this grant round. The minimum date for this grant closes May 2024.

Visit GrantConnect for more information.

Medical Research Future Fund Data Infrastructure Grant Opportunity

This opportunity looks to support the creation or extension of national research data infrastructure to support world-class health and medical research in Australia. It could be leveraged by rare disease researchers with expertise and interest in a systematic and streamlined approach to rare disease data in line with the Recommendations for a National approach to Rare Disease Data launched in July 2023.

Visit GrantConnect for more information.

Medical Research Future Fund – EPCDRI & PHCRI – 2023 Multidisciplinary Models of Primary Care Grant Opportunity (Streams 1, 2 and 3)/2023 Multidisciplinary Models of Primary Care (Stream 4)

This opportunity may be leveraged to address the broader rare disease workforce issues highlighted in the National Strategic Action Plan for Rare Diseases and the Metabolic Workforce White Paper and Strategy. The minimum date for these grants closes April 2024.

Visit GrantConnect for more information about the 2023 Multidisciplinary Models of Primary Care Grant Opportunity (Streams 1, 2 and 3).

Visit GrantConnect for more information the 2023 Multidisciplinary Models of Primary Care (Stream 4).

As the national peak body for Australians living with a rare disease, Rare Voices Australia (RVA) welcomes the recent announcements from the Department of Health and Aged Care regarding conditions to be added to, or evaluated for, newborn bloodspot screening (NBS) panels. We acknowledge the RVA Partner groups/organisations and their communities that have persistently pursued these outcomes.

The Medical Services Advisory Committee Recommends Screening for X-linked Adrenoleukodystrophy

On 12 October, the Public Summary Document for the Medical Services Advisory Committee’s (MSAC) consideration of X-linked adrenoleukodystrophy (X-ALD) for NBS was released with MSAC recommending that state NBS programs screen all babies for X-ALD. RVA congratulates the X-ALD community for their persistence in continuing to advocate for this outcome. A funded, transparent and sustainable assessment process of conditions for NBS has been a key driver for RVA in our ongoing advocacy for improvements to newborn screening.

The Department of Health and Aged Care Announces Additional Conditions to Be Referred to the Medical Services Advisory Committee for Evaluation

The Department of Health and Aged Care has announced that Pompe disease, Mucopolysaccharidosis type I (MPSI) and Mucopolysaccharidosis type II (MPSII) have been referred to MSAC for assessment following technical advice. RVA will provide information when opportunities for consumer comments can be provided on these assessments. Congratulations to our RVA Partner groups/organisations that have worked tirelessly towards this result.

If you have any specific questions about Australia’s NBS programs, you can email: NBS@health.gov.au.

The Health and Medical Research Office’s (HMRO) Performance and Evaluation Section within the Department of Health and Aged Care (the Department) recently asked Rare Voices Australia (RVA) to share their final report on the evaluation of the Medical Research Future Fund Clinical Trials Activity (MRFF-CTA) grant opportunity (Evaluation Report) with the rare disease sector. The report was prepared by the Institute for Evidence-Based Healthcare, Bond University Australia.

As the national peak body for Australians living with a rare disease, RVA’s work is non-disease specific and is based on the commonalities of rare disease. Our advocacy focuses on rare disease policy, processes and systems. RVA advocates for all rare disease communities.

RVA commends the Department for commissioning this work and encourages any evaluation of the use of health and medical research funding in Australia. The Evaluation Report highlights several important strengths and gaps in how MRFF-funded clinical trials are conducted and how they perform against national and international comparators. However, important gaps in clinical trials for rare disease were not identified in the Evaluation Report. Both RVA and the HMRO recognise that rare disease research is not being funded to the extent anticipated. These gaps are discussed in detail below.

Download the Evaluation of the MRFF-CTA Final Report at the Department Health and Aged Care’s website.

Rare Voices Australia’s Response to the Evaluation Report

RVA wrote a letter to the Department to encourage any future evaluation of funding for rare disease research to include broader stakeholder consultation, including consultation with RVA as the national peak body for Australians living with a rare disease and RVA’s Scientific and Medical Advisory Committee. RVA and the HMRO recognise that few rare disease clinical trials have been selected for funding under the MRFF-CTA grant opportunity to date. RVA is in ongoing discussions with the HMRO to identify ways to facilitate greater investment in rare disease research, including clinical trials.

The MRFF’s commitment to priority-driven research has been transformative for rare disease. The explicit and intended focus of rare disease in particular grant rounds are a welcome change for rare disease, where knowledge is limited, and treatments are scarce. As acknowledged in the Australian Government’s National Strategic Action Plan for Rare Diseases (the Action Plan), for many people living with a rare disease, participation in a clinical trial may be the only way to access treatment. This reality emphasises the considerable need for greater investment in clinical trials to contribute towards achieving the Action Plan’s vision: the best possible health and wellbeing outcomes for Australians living with a rare disease.¹

While RVA acknowledges the intentions to fund rare disease research, and the explicit mention of rare disease in grant names, it is clear—from RVA’s experience, grants selected for funding and now evidenced in the Evaluation Report—there remain few rare disease research studies selected for funding through the MRFF-CTA grant scheme. This claim is evidenced by the following:

• Clinical trials addressing rare disease were not mentioned as part of the collective conditions studied under MRFF-funded clinical trials. This observation excludes rare cancers, which were noted as having the most trials funded under the MRFF-CTA grant scheme in the Evaluation Report.
• There was no mention in the Evaluation Report about the need to encourage unique trial designs for rare disease. For example, n of 1 clinical trials and decentralised trials, which are vital to enabling access to life saving treatments where sample sizes are inherently few and geographically spread and patient populations are heterogenous. Whilst larger cohorts and conventional trial designs are important for statistical significance, they are not fit-for-purpose for rare disease due to small patient numbers. Trial designs that enable longer recruitment times could increase patient numbers; however, as mentioned in the results of the Evaluation Report, the limited duration of funding was a significant barrier to clinical translation and impact reporting for MRFF-funded trials.

The barriers and enablers to clinical trials identified in the Evaluation Report are relevant to rare diseases, including the duration of grant funding, workforce limitations, site governance and approval processes and patient recruitment. However, there are several barriers to clinical trials that are compounded in rare disease, including expectations around more conventional trial designs due to inherently small and geographically spread patient cohorts, and the expectation that verified Standardised Outcome Sets for rare diseases exist.

The Australian Government’s Action Plan addresses the importance of enabling clinical trials for rare disease in Australia.

Note: this article was updated on 31 August 2023.

References

1. Commonwealth of Australia. Department of Health. National Strategic Action Plan for Rare Diseases. Canberra; 2020. 63 p. Available from: https://www.health.gov.au/sites/default/files/documents/2020/03/national-strategic-action-plan-for-rare-diseases.pdf

 

The Government of Western Australia Department of Health and the Genetic Services of Western Australia (GSWA) invite people to participate in a project to plan the future of genetic service delivery by GSWA.

GSWA provides genetic counselling, genetic testing, and family planning support for people impacted by certain genetic conditions. GSWA is in the process of developing a clinical service plan which will outline the future direction of the service and help to enhance the experience of those who use it.

To ensure the clinical service plan reflects the needs of all Western Australians, the Health Consumers’ Council (Western Australia) Inc. and the Department of Health are consulting with a wide variety of stakeholders from June to October 2023. This will be done via surveys, interviews, focus groups and an online workshop.

Input is appreciated from:

• Health professionals who manage people with genetic conditions and either refer to GSWA or currently do not refer to GSWA
• Support service staff who assist people during their appointments with GSWA (including interpreters and Aboriginal Liaison Officers)

If you fall into either of these categories, please complete the Clinician and Support Service survey (hosted by the Department of Health).

General practitioners

If you are a general practitioner, you can also register for an online focus group on this website to discuss the current and future role of primary care in the provision of clinical genetics services in Western Australia. The discussion will focus on the opportunities and priorities for GSWA, but participants do not have to refer to GSWA to be eligible to attend.  Places are limited so please register to participate as soon as possible.

Go to Western Australia’s Department of Health website for more information.

By popular demand, five additional Project ECHO® workshop sessions for health professionals have been announced. See the updated schedule and register to attend here.

Each session will cover a key skill for caring for people living with a rare disease. They will have an enhanced format that allows more time for practical case studies and discussion.

What is Rare Disease Project ECHO®?

Project ECHO® is a free, innovative video conferencing model that connects providers to the multidisciplinary Rare Disease Awareness, Education, Support and Training (RArEST) Project team. Workshop sessions are designed to equip health professionals with the right knowledge, at the right place and the right time.

The RArEST Project is a collaboration between Rare Voices Australia, the University of New South Wales, the University of Western Australia and Macquarie University. Learn more about the RArEST Project on this website page.

How participating in Rare Disease Project ECHO® benefits your practice

“Taking part in the Rare Diseases ECHO has provided highly valuable insights into the lived experience of patients with a rare disease. It has been a great way to connect with health professionals in different fields. As a GP I feel better equipped to understand and support the needs of patients living with rare diseases from the primary setting”. – Dr Gemma Ossolinski

• Clinical care: support with diagnosis and management of rare diseases in your practice.
• Knowledge: learn about the resources available to you and your patients across a range of topics.

How your practice community benefits from your participation in Rare Disease Project ECHO®

• Health: create and engage with a multidisciplinary network of like-minded care providers to support patients living with a rare disease and their carers/families.
• Access: establish referral pathways across Australia to reach subject matter experts for rare diseases. Gain access to a range of rare disease focused resources and training designed for health professionals.

Time commitment and cost

There are no costs involved. All sessions are delivered online via Zoom – see the schedule.

Format of sessions

To protect the privacy of patients featured in case studies, these sessions are not recorded. Joining live also maximises your opportunities to build relationships with other health professionals across Australia.

Continuing professional development (CPD) points

Many health professionals can use these sessions towards self-identified continuing professional development requirements.

These sessions are pending RACGP approval for 5 CPD Approved Activity hours.

How to join Rare Disease Project ECHO®

Register to attend the series.

Please email the RArEST Project team with any queries you may have about Project ECHO® or the RArEST Project: RArEST@unsw.edu.au

Schedule: Rare Disease Project ECHO® Workshop Sessions

Speakers will be confirmed soon.

Rare Voices Australia (RVA) was pleased to contribute to a Parliamentary Event on 19 May hosted by the Parliamentary Friends of People with Rare and Undiagnosed Diseases (Parliamentary Friends Group) in Western Australia (WA), in collaboration with the Rare Care Clinical Centre of Expertise for Rare and Undiagnosed Diseases. The event, Hope in Clinical Trials: Advancing Research for Rare Diseases, marked Clinical Trials Day, which occurred on 20 May. RVA’s Chief Executive Officer, Nicole Millis; Director, Kane Blackman; Scientific and Medical Advisory Committee member, Clin/Prof Gareth Baynam; Education Project Officer, Jess Brooklyn; and RVA Ambassador Andrew Bannister were pleased to attend.

Clinical trials and the National Strategic Action Plan for Rare Diseases

The Australian Government’s National Strategic Action Plan for Rare Diseases (the Action Plan) acknowledges that for many people living with a rare disease, participation in a clinical trial may be the only way to access treatment. Additionally, the Action Plan highlights the need for investment into clinical trials.

Images courtesy of Child and Adolescent Health Service

‘Hope in Clinical Trials: Advancing Research for Rare Diseases’

Nicole was pleased to emphasise the urgent need for investment and collaboration to develop clinical trial infrastructure. Clin/Prof Baynam spoke about rare diseases and clinical trials, underlining that there is currently limited access to clinical trials for children with a rare disease in WA. Attendees also heard from professional and lived experience experts who spoke on a panel session, which consisted of Kane whose son Finn lives with Angelman syndrome; Caroline Fitzpatrick, the mother of a child with a rare disease who could access a clinical trial interstate; Professor Merrilee Needham and Jayden Rogers.

RVA thanks Co-Convenors of the Parliamentary Friends Group, the Hon Matt Swinbourn MLC, the Hon Donna Faragher MLC and the Hon Stephen Pratt MLC, for their ongoing support of the rare disease community. We also thank the stakeholders who attended for their support of the estimated two million Australians living with a rare disease.

Why are Parliamentary Events important?

Parliamentary Events provide stakeholders, including people living with a rare disease, with the opportunity to meet and speak with politicians to further highlight rare diseases and mark important days such as Clinical Trials Day.

The Department of Health and Aged Care has advised that the first round of public consultation for the Health Technology Assessment (HTA) Policy and Methods Review (the HTA Review) is now open. Consultation 1 focuses on the objectives of the HTA Review set out in the Terms of Reference. Submissions are open until 6 June 2023.

More information about how to participate in Consultation 1 and making a submission is available via the Department of Health and Aged Care’s Consultation Hub. Information about the HTA Review is available via the HTA Review website, which has been updated to include:

• A consultation overview outlining the planned consultation activities for the HTA Review
• A Work Plan that includes the key work and milestones planned for the HTA Review

Rare Voices Australia (RVA) will be lodging a submission as the national peak body for Australians living with a rare disease.

RVA Education: Upcoming Webinar for RVA Partner Organisations

RVA is planning a webinar for RVA Partner organisations considering making a submission to the HTA Review. The webinar will cover:

• The purpose and scope of the HTA Review
• The relevance of the HTA Review to Australians living with a rare disease
• Key messages that are important for HTA review of rare disease therapies now and into the future

There will be an opportunity to ask questions and share ideas. RVA will share more information, including the agenda and time/date for the webinar, as soon as possible.

Note: RVA Partner organisations can also reach out to RVA for customised mentorship support: education@rarevoices.org.au

Background Information

The Department of Health and Aged Care published the Terms of Reference for the HTA Review in March 2023. RVA was pleased to contribute to the TOR consultation as the national peak body for Australians living with a rare disease. In March, RVA published this article, which includes:

• RVA’s reflections on the TOR
• An explanation of health technology assessment (HTA)
• How those interested can participate in the HTA Review
• Resources to help stakeholders interested in preparing a submission

Why Is Health Technology Assessment Important in Rare Disease?

As noted in the Australian Government’s National Strategic Action Plan for Rare Diseases (the Action Plan), many different types of health technology are used in rare diseases, and many more are emerging. Equitable access to health technologies is an important issue for the rare disease community and is highlighted in the Action Plan:

Priority 2.4: Enable all Australians to have equitable access to the best available health technology.

Limited data is inherent in rare diseases. This creates uncertainties that present specific challenges for HTA processes.

In March, the Australian Government Department of Health and Aged Care published Principles for consumer involvement in research funded by the Medical Research Future Fund (the Principles).

To achieve the best quality, outcomes and value for money in Medical Research Future Fund (MRFF) funded research, the Principles mention consumers should be involved:

• In every type of research
• At all stages of research
• In partnership with researchers
• Effectively
• Sensitively and safely
• With broad diversity and equity

Click here to find out more about the Principles.

Consumers interested in being involved in research, and researchers wanting to learn more about engaging consumers in their research, can also visit the RARE Portal for more information and links to resources. RVA also provides customised mentorship for RVA Partner organisations around participation in research: education@rarevoices.org.au.  

Background

This document outlines principles for consumer involvement in MRFF-funded research and practical guidance for researchers on their implementation. The Principles were developed with advice from the MRFF Consumer Reference Panel, a diverse group of socially, ethnically, culturally, linguistically and geographically diverse Australians, including people with lived experience as patients, service users and carers. The MRFF Consumer Reference Panel was established in 2022, ‘to provide advice to the Chief Executive Officer of the Health and Medical Research Office [the office responsible for implementation of the MRFF] on strategies for strengthening consumer involvement in the Medical Research Future Fund’s implementation’.

Why Is This Important?

Pillar 3 of the National Strategic Action Plan for Rare Diseases (the Action Plan) is Research and Data. For key decision-makers at all levels, greater knowledge of rare diseases can facilitate more responsive and appropriate services for people living with a rare disease and their families and carers. The Action Plan acknowledges that investment into all types of research related to rare disease is needed. There is an understanding in the Australian rare disease community that, while research may not lead to better outcomes for people currently living with a rare disease, participating in research may drive change for future generations.¹

1. Australian Government Department of Health. National Strategic Action Plan for Rare Diseases. Canberra; 2020. 63 p. Available from: https://www.health.gov.au/resources/publications/national-strategic-action-plan-for-rare-diseases