Edition of 18 September 2024

International News

Understanding the role of patient organisations in promoting and developing newborn screening

A new article has been published in Rare Disease and Orphan Drugs Journal, describing the work of six different patient organisations around the globe to advocate for newborn screening (NBS) and better awareness of rare diseases. In this collaboration between the International Rare Diseases Research Consortium (IRDiRC) and the patient advocacy constituent committee (PACC), the authors describe the different approaches each organisation takes towards advocacy, and draw conclusions on best practices for public engagement in the promotion of NBS programmes.

NBS programmes are important public health interventions which can support the early diagnosis of various rare diseases, thus enabling timely medical intervention and minimising the risk of long-term disease complications. As such, the widespread introduction, expansion, and awareness of such programmes is a priority for many rare disease advocates.

In this article, the authors examine the approaches of six different patient organisations who have prioritised NBS: the Colombian Federation of Rare Diseases (FECOER); the Cyprus Alliance for Rare Disorders (CARD); Rare Diseases South Africa (RDSA); the Asia Pacific Alliance of Rare Disease Organizations (APARDO); EURORDIS; and SMA Europe. As a whole, they employ techniques such as education, evidence gathering, and fostering multidisciplinary collaboration to advocate for the expansion of screening panels and implementation of NBS programmes.

Overall, the article demonstrates the crucial role of patient organisations in developing and implementing NBS policy. In particular, the authors recognise the essential involvement of such organisations to ensure equitable access to NBS.

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New Zealand launches first national rare disease strategy

On 25 July 2024, the government of New Zealand released their first-ever rare disease strategy. Developed by the Ministry of Health in partnership with a Reference Group which provided input and feedback on drafts based on members’ lived experiences, the Aotearoa New Zealand Rare Disorders Strategy is the country’s first high-level, documented intention to improve the health and wellbeing of people living with a rare disease (PLWRD) and their families.

The strategy takes a holistic approach, and identifies five broad priorities to help guide future approaches to rare disease care. They are:

Gearing the system for quality and timely care;
Learning and sustaining progress;
Equipping the health workforce for quality rare disorders care;
Giving voice to people and their whanau (family/loved ones) living with rare disorders;
Joining up internationally to achieve more.

For each priority, a number of specific actions have been identified as part of the plan’s implementation. These include measures such as building leadership and coordination, supporting research and evaluation, creating clinical guidelines and pathways, and listening to whanau Māori rare voices.

The strategy also provides the first official definition of what is considered a rare or ultra-rare disorder in New Zealand. Rare disorders are defined as those which affect no more than 1 in 2,000 people, while ultra-rare disorders have a maximum prevalence of 1 in 50,000.

The launch of the strategy marks the culmination of over 20 years of advocacy work by Rare Disorders New Zealand (RDNZ) and other patient groups, who have long been dedicated to raising awareness about the importance of a national strategy for achieving health equity for PLWRD. Moving forward, RDNZ will work with the different agencies responsible for implementing the strategy to ensure that it delivers meaningful change to service delivery.

Canada: British Columbia signs funding agreement on National Rare Disease Drug Strategy

In July 2024, the province of British Columbia signed a bilateral funding agreement with the Canadian government to begin implementing the new National Strategy for Drugs for Rare Diseases, announced in March 2023. The agreement guarantees a total investment of $194 million over three years to improve access to new drugs and to support enhanced access to existing drugs, early diagnosis, and rare disease screening for the province’s residents. While British Columbia is the first province to take this important step towards improving the lives of Canadians living with a rare disease, other provinces and territories are expected to follow suit and sign similar agreements moving forward.

Since the announcement of the National Strategy, all Canadian provinces and territories, with the exception of Quebec, have been working to compile a small common list of new drugs for rare diseases to be funded and cross-shared across the country. While the list is expected to contain twelve total medicines, only two have been announced so far: Poteligeo, used in the treatment of mycosis fungoides or Sézary syndrome, and Oxlumo, which is indicated for primary hyperoxaluria type 1.

In response to British Columbia’s signing of the agreement, the Canadian Organization for Rare Disorders (CORD) congratulated the province on having taken this critical step and celebrated the fact that patients who may benefit from treatment with Poteligeo or Oxlumo will now be able to access them. However, they criticised the current lack of transparency surrounding the remaining common list drugs and their selection process. In particular, CORD expressed disappointment with the lack of engagement with patient groups, who had no input on which medicines would qualify for enhanced federal funding.

While work certainly remains to be done, the signing of this agreement marks an ongoing commitment by both the British Columbia and federal governments to increase their investment in improving the lives of people living with a rare disease. Hopefully, the provincial, territorial, and federal governments will hear the concerns of CORD and other patient organisations and make a more concerted effort to ensure that patients have a role in shaping the implementation of the National Strategy moving forward.

European News

ERDERA: Partnership for a new era of rare disease research

This month, the European Rare Diseases Research Alliance (ERDERA) is kicking off to continue the work of the EJP RD to accelerate rare disease research and its translation into tangible improvements in the diagnosis and treatment of people living with a rare disease (PLWRD). In service of this goal, ERDERA will continue to develop a robust and comprehensive data and expertise infrastructure and innovative clinical research services, with a focus on advanced therapies. Its activities will include funding new research projects, providing training, and facilitating the availability of new solutions for patients.

ERDERA is led by the French National Institute of Health and Medical Research (INSERM) and consists of 170 partner organisations from 37 countries, including all countries in the EU except Croatia, as well as Australia, Canada, Georgia, Iceland, Israel, Morocco, New Zealand, Northern Ireland, Norway, Serbia, Switzerland, and Türkiye. The participants represent a great diversity of sectors, including research, patient organisations, industry, national and European institutions, and others.

With such a large team, ERDERA will benefit from the many areas of expertise of the more than 1400 members involved in the partnership. This will support in-depth work on the project’s key pillars of Funding, Clinical Research Network, Support Services, and International Alignment. These pillars are organised to advance the three components of ERDERA’s mission:

To enhance collaboration, align research funding and enable optimal integration of EU and national rare disease strategies and plans;
To bridge the huge gap that hampers the translation of research results into cost-effective solutions that reach patients;
To help reduce the fragmentation of knowledge and data and evolve towards a holistic approach to research and innovation in rare diseases.

To celebrate the launch of this exciting new initiative and for a more in-depth presentation of the partnership and its objectives and foreseen activities, ERDERA will hold a kick-off event from 28-29 October 2024, with more information to follow closer to the event.

By undertaking the tasks outlined above, ERDERA will build on the work of its predecessors to work in close collaboration with PLWRD to improve access to rare disease diagnosis, treatment and care in Europe and beyond.

New EMA pilot to support orphan medical devices

The EMA has launched a new pilot programme intended to support the development and assessment of orphan medical devices in the EU. The pilot, which is currently scheduled to run until the end of 2025, will offer free advice from expert panels to selected manufacturers and notified bodies on the orphan device status and the data needed for their clinical evaluation.

Orphan devices, similar to orphan drugs, are medical devices which are indicated for diseases or conditions with small patient populations. In the Europe, medical devices are considered orphan devices if their indications affect no more than 12,000 individuals in the EU per year. They often represent important advances in diagnosing and treating rare diseases, particularly when no or insufficient alternative options exist. Orphan devices therefore play a significant role in fulfilling the unmet medical need of the rare disease community.

Under the pilot programme, manufacturers will be able to consult the expert panels at different stages of the development of their device’s clinical strategy. Additionally, notified bodies will be able to request advice at specific moments of the device’s ongoing conformity assessment. While in the pilot phase, EMA will prioritise certain types of orphan devices, particularly those indicated for conditions which are life-threatening or may cause permanent functional impairment, paediatric devices, and novel devices with the potential for major clinical benefit.

The introduction of the pilot programme follows the publication of new guidance on the clinical evaluation of orphan medical devices issued by the Medical Device Coordination Group in June 2024. While the pilot is currently only scheduled to continue through the end of next year, the overall aim is to establish a long-term process for orphan device support.

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EURORDIS: Past and current influence on the European rare disease landscape

A new article by members of EURORDIS has been published in Rare Disease and Orphan Drugs Journal, discussing the organisation’s achievements over the past two decades and its ongoing policy work advocating for a European Action Plan for Rare Diseases.

EURORDIS is a non-governmental, patient-driven alliance of more than 1,000 patient organisations founded in 1997 to advocate for the rights and well-being of people living with a rare disease (PLWRD). Since its creation, the group has been instrumental in shaping EU rare disease policy, through its influence on legislation such as the Regulation on Orphan Medicinal Products (2000), the Paediatric Regulation (2006), the Cross-Border Healthcare Directive (2011) and, more recently, the Health Technology Assessment (2022) and European Health Data Space (EHDS) (2024) Regulations.

In support of its mission of advocacy, EURORDIS also conducts a number of activities aimed at raising awareness, education, and patient engagement. These include the survey initiative Rare Barometer, the European Conference on Rare Diseases (ECRD), and the publication of position papers.

Currently, EURORDIS’s work is organised around three strategic objectives:

A new European policy framework to achieve measurable goals to prolong and improve the lives of PLWRD by 2030.
Deliver on six identified priority areas, namely diagnosis; care pathways; integrated holistic care; research and knowledge development; digital health; and availability, accessibility and affordability of treatments.
Leave no one behind, through the inclusion of all rare diseases in all regions of Europe.

In pursuit of these objectives, the alliance is and has been highly involved in a number of European and international rare disease projects, such as the Europe Joint Programme on Rare Diseases (EJP RD), Together4RD, and the forthcoming European Rare Diseases Research Alliance (ERDERA). Looking forward, EURORDIS has hope for a future European Action Plan for Rare Diseases which will tangibly and significantly improve the lives of PLWRD in Europe by the year 2030.

Health Economics

Quality of Care

Ethical, Legal and Social

Appropriate consent and health rights of children: Understanding the ethics of genomic newborn screening

A new article has been published in the European Journal of Human Genetics exploring the ethical and legal landscape of introducing genomic screening into existing newborn bloodspot screening programs. The authors pay particular attention to the idea of consent, and the delicate balance with which it must be considered against individual’s health rights.

Newborn screening (NBS) programmes play an important role in the early detection, diagnosis and treatment of disease, and are considered to be a critical group of public health interventions. Traditionally, NBS programmes have screened for a limited number of rare conditions. However, new and emerging genomic technologies have expanded the possible applications for NBS by opening the door to incorporating genomic sequencing.

Despite the potential individual and population health benefits of genomic NBS (gNBS), it also poses significant ethical and legal questions, particularly with regards to consent. While technological advances have lowered the barrier to screening for a larger number of conditions, the introduction of large-scale gNBS would represent a fundamental shift in the type and potential applications of data collected through NBS programmes. As such, current parental consent procedures do not adequately capture the realities and potential outcomes of gNBS. However, there is a lack of consensus surrounding what exactly would constitute an appropriate consent process. Different viewpoints on this topic are inextricably linked to debates over whether gNBS constitutes a form of clinical care, or a population health intervention.

Weighed against the question of consent is the right of the screened newborn to be identified, diagnosed, and treated. On this topic, the authors refer to legal considerations such as the UN International Convention on the Rights of the Child (1989), which codified the rights of children to be heard, to privacy, and to the highest attainable standard of health. This introduces complex questions about the legal obligation of health systems to perform NBS.

Overall, the ethical and legal issues surrounding the implementation of gNBS are numerous and complicated. As health systems move towards the use of genomic technologies in NBS programmes, extensive discussion needs to be had about what constitutes appropriate consent, what level of information parents should receive about screening, and what obligation governments have to screen newborns and to what extent.

International News

European News

Health Economics

Quality of Care

Registries and Biobanks

Data Management

Bioinformatics and Biotechnology

Epidemiology

Summary of the edition of 18 September 2024

Editorial

Political news

Scientific news

And also...

International News

Understanding the role of patient organisations in promoting and developing newborn screening

New Zealand launches first national rare disease strategy

Australia: Results of the country's first adult undiagnosed disease program

Rare Voices Australia: New factsheets on mental health and rare diseases

Canada: British Columbia signs funding agreement on National Rare Disease Drug Strategy

USA: New NORD resources on genetic testing after diagnosis

European News

ERDERA: Partnership for a new era of rare disease research

New EMA pilot to support orphan medical devices

EMA Committee for Advanced Therapies & Management Board: Calls for expressions of interest

Enpr-EMA working group surveys on cross-border clinical trials

EURORDIS: Past and current influence on the European rare disease landscape

Apply for the EURORDIS Open Academy Schools 2025!

ELIXIR: New internal projects funded to support scientific strategy

Introducing the IHI Data Sharing Playbook: Accelerating data sharing for innovative research

Health Economics

Models for sustainable public financing of gene therapies around the world

Quality of Care

Understanding accessibility of mental health services for caregivers of children with a rare disease

CONNECT-ROD: Evaluation of an online psychosocial support intervention for adults with a rare disease

Ethical, Legal and Social

Appropriate consent and health rights of children: Understanding the ethics of genomic newborn screening

Registries and Biobanks

A framework for rare disease registry development based on rare neurogenetic diseases

Data Management

The Digital Atlas of Ancient Rare Diseases (DAARD): The role of archaeological evidence in current medical research

Customising common data models for rare diseases to enable large-scale studies

Bioinformatics and Biotechnology

How accurate are large language models for differential diagnosis of genetic conditions? Comparing open- and closed-source tools

Epidemiology

Epidemiology and geographical distribution of rare diseases in China

Epidemiology and healthcare burden of rare diseases among hospitalised adults in Malaysia

Summary of the edition of 18 September 2024

Editorial

Political news

Scientific news

And also...