Edition of 06 October 2025

International News

WHA Resolution on Rare Diseases: Moving from adoption to implementation

On 28 August 2025, Rare Diseases International (RDI) held a webinar on next steps following the adoption of the World Health Assembly (WHA) Resolution on Rare Diseases. This webinar was organised in the framework of the Coalition for Advocacy for Rare Disease Equity (CARE), and aimed to explore the current status of the Resolution, align on the next phases of the CARE and how members can be involved, and clarify how different stakeholders can contribute to the implementation of the Resolution.

Moving forward, RDI will be establishing regional task forces composed of RDI members and CARE members to coordinate input to influence the implementation of the WHA Resolution and development of the Global Action Plan for Rare Diseases (GAPRD). A global task force is also planned to engage actors at the international level. The webinar concluded with three specific calls to action:

Clarity from the WHO on the consultation process and the establishment of key thematic working groups to develop the GAPRD
Engagement with Cosponsors and other Member States via CARE and RDI members at national and regional levels to create dialogues
Mobilisation of all stakeholders to continue internal discussions and prepare input for the GAPRD consultations

The CARE represents the continuation of the Coalition formed earlier this year to advocate for the adoption of the WHA Resolution on Rare Diseases. Following this success, the CARE is shifting its focus to promoting the Resolution’s implementation, particularly the development of a 10-year GAPRD. The Coalition currently brings together a total of 288 members across stakeholder groups, including patient organisations, academic and research institutions, and clinical centres and hospitals.

European News

Outcomes of the EMA medicines repurposing pilot

The European Medicines Agency (EMA) and the Heads of Medicines Agencies (HMA) have released a report on the medicines repurposing pilot program, which took place from 2021-2024. The goal of the pilot was to test a proposed framework to support not-for-profit organisations and academia in repurposing research using existing regulatory tools such as scientific and regulatory advice.

Medicines repurposing refers to the identification of new therapeutic uses, or indications, for existing, off-patent, authorised medicines. It is a critical avenue to discover new treatment options for areas of unmet medical need, such as in rare diseases. However, marketing authorisation holders (MAHs) often do not fully explore repurposing potential due to a lack of commercial incentives. Not-for-profit organisations and academia therefore play a key role in generating evidence to support repurposing. The medicine repurposing pilot sought to support organisations in this role by providing scientific advice free of charge, and by facilitating partnerships with MAHs or third parties who were interested in submitting marketing authorisation applications based on the resulting new data.

The pilot found that while resource-intensive, the scientific advice process was helpful in developing data packages that meet requirements for new indications. However, identifying MAHs or third parties interested in undertaking an application to extend the indication(s) of their marketing authorisation has proved more challenging. As of the report’s publication, only one project from the pilot has successfully achieved on-label approval for a new indication.

In addition to scientific advice, the report explored the potential of integrating real-world evidence (RWE) into repurposing projects. The report found that early collaboration with regulators from across the European Medicines Regulatory Network is essential in order to enhance the use of RWE, as such studies are more time-consuming than the standard scientific advice process.

Moving forward, the EMA and the rest of the EU regulatory network remain committed to supporting both the selected and future repurposing projects. The report encourages new repurposing initiatives to engage with both the EMA and National Competent Authorities (NCAs) early on in the development process in order to take full advantage of the assistance available to them. Beyond evidence levels however, the report identifies other barriers to repurposing – such as funding, MAH partnership, HTA processes, and pricing and reimbursement – which require coordinated action from other actors in the repurposing ecosystem.

Health Economics

Orphan Drugs

Quality of Care

Improving detection and treatment of rare diseases within psychiatry

A recent study published in the Orphanet Journal of Rare Diseases explores strategies for the diagnosis and treatment of rare diseases with primary neuropsychiatric symptoms. The authors used a scoping review methodology to analyse diagnostic delay and to identify best practices for disease management in these conditions, ultimately uncovering avenues for the development of more effective healthcare interventions.

While there are a limited number of rare diseases which present with primary neuropsychiatric symptoms directly linked to the underlying pathophysiology, individuals affected by such conditions face a large amount of unmet medical need. Attempts to treat said symptoms fail to address the underlying condition, thereby leading to delays in both diagnosis and receiving appropriate treatment.

In this study, the authors found an average delay of 7.7 years between the apparition of symptoms and the receipt of an accurate diagnosis. In order to reduce this waiting period and facilitate early disease detection, the authors advocate for better awareness of rare diseases and the various associated symptoms within psychiatric settings. They also identify 108 specific rare diseases which are potential candidates for a mental health genetic screen.

Beyond diagnosis, the study identified a range of best practices for managing neuropsychiatric symptoms of rare disease. Together, these measures aim to optimise treatment of the underlying pathology and/or major symptoms, while guarding against the increased risk of adverse reactions to mental health medications which is present in certain rare diseases. Specifically, the authors recommend the use of non-psychotropic medications, dietary adjustment, and avoidance of certain drug classes and other treatments that target the underlying pathophysiology before improvement of the neuropsychiatric symptoms is observed.

Finally, the authors found that despite the limited number of diseases included in their analysis, they represented a significant financial burden on mental health systems. By implementing the strategies outlined in this study, this burden could be reduced by redirecting patients to the appropriate treatment options and/or health professionals earlier in the care pathway.

International News

European News

Health Economics

Orphan Drugs

Quality of Care

Screening and Prenatal Diagnosis

Quality of Life

Data Management

Epidemiology

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Summary of the edition of 06 October 2025

Editorial

Political news

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International News

WHA Resolution on Rare Diseases: Moving from adoption to implementation

Australia: RVA unveils report on Australia's Top 10 Rare Disease Research Priorities

New Zealand: Participate in the RDNZ survey on living with a rare condition

USA: FDA introduces new Rare Disease Evidence Principles

USA: NORD introduces new online course on data literacy

TREAT-NMD: New Family Guide for Limb-Girdle Muscular Dystrophy

TREAT-NMD survey on educational programming for 2026

USA: C-Path International Neonatal Consortium survey

European News

Healthcare professionals & researchers: Share how you use patient experience data

EURORDIS Open Academy 2026: Applications open!

EURORDIS: Virginie Bros-Facer to step down as CEO

Outcomes of the EMA medicines repurposing pilot

JARDIN: New video tutorial on care pathways for patient representatives

TEHDAS2 publishes guideline on data use in secure processing environments

Health Economics

How are orphan drug prices determined in South Korea? An analysis of reimbursement approvals from 2012-2022

Orphan Drugs

EMA: Three new market authorisations with an orphan designation in July 2025

EMA: Nineteen new orphan designations accorded by the COMP in July 2025

FDA: Eight new market authorisations with orphan designation granted in July 2025

FDA: Thirty-four new orphan designations approved in July 2025

Quality of Care

Improving detection and treatment of rare diseases within psychiatry

Undiagnosed Hackathons: Ending the diagnostic odyssey through multidisciplinary collaboration

Screening and Prenatal Diagnosis

Prenatal diagnosis in India: Fourteen years' of results from a genetic centre

Ethical, Legal and Social

Understanding identity development in adolescents with genetic disorders

Quality of Life

Can cognitive behavioural group therapy help people living with a rare disease?

Data Management

MINDDS-Connect: How federated data platforms protect privacy & promote research

Epidemiology

Epidemiology of rare diseases in China

More to Explore

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Summary of the edition of 06 October 2025

Editorial

Political news

Scientific news

And also...