CYPRUS 2026 EU CONFERENCE: ADVANCEMENT OF TREATMENTS FOR RARE DISEASES

Project Information

CY2026_RareDiseases

Grant agreement ID: 101297283

DOI

10.3030/101297283

Project closed

EC signature date 10 December 2025

Start date 1 November 2025

End date 31 July 2026

Funded under

• Health

Total cost

No data

EU contribution

€ 300 000,00

Coordinated by

KYPRIAKO IDRYMA EREVNON GIA TI MYIKI DISTROFIA
Cyprus

Periodic Reporting for period 1 - CY2026_RareDiseases (CYPRUS 2026 EU CONFERENCE: ADVANCEMENT OF TREATMENTS FOR RARE DISEASES)

Reporting period: 2025-11-01 to 2026-07-31

Summary of the context and overall objectives of the project

Rare diseases affect about 30million people in the EU. Most are genetic in aetiology and usually associated with lifelong disability. Their rarity and complexity hinder diagnosis, treatment and specialist care, especially in smaller Member States. Despite strong European networks and funding, research strategies, policy, investment and access to available treatments remain fragmented. Better coordination is needed to share evidence, use data and deliver therapies.
The Conference, organised by the Cyprus Institute of Neurology & Genetics in collaboration with the Deputy Ministry of Research, Innovation & Digital Policy, as one of the main Cyprus EU Presidency events, aimed to unite key stakeholders to develop European recommendations.
The objectives included 1) strengthening cross-border collaboration, 2) advancing discussions around repurposing, trials and data innovation, 3) improving orphan-medicine policy and regulation, 4) highlighting the need for expanded access to treatments, expertise and trials, 5) raising awareness and sharing knowledge and 6) enabling secure, FAIR and GDPR-compliant data sharing.
More than 40 distinguished speakers from Cyprus and abroad participated, in an audience of approx. 200 individuals who attended in-person and online. The outcomes of the conference include 5 panel reports, an actionable Conference Report, 10 interviews with stakeholders, open-access materials, and a repository with over 1,000 active users by 2028.
The conference was able to link research, regulation, finance, care and patient experience, helping innovation reach underserved patients. Social sciences and humanities addressed affordability, governance, ethics, data protection, responsible AI, equitable access and patient engagement, supporting sound and practical recommendations.

Work performed from the beginning of the project to the end of the period covered by the report and main results achieved so far

The project developed and delivered a 2day Conference, in Nicosia-Cyprus, entitled “Advancement of Treatments for Rare Diseases”. The conference assessed evidence and expert perspectives across the therapy pathway, from discovery and translation to regulation, trial readiness and healthcare delivery. Five expert analyses produced reports and recommendations on translation, incentives, collaboration, regulation, data, trial readiness and sustainable delivery. The resulting framework defines the capabilities needed to move research towards patient-ready interventions, including product profiles, shared therapy and manufacturing platforms, early regulatory support, robust evidence strategies, interoperable data, trial networks and outcome collection. Its principal outcome is a coordinated technical framework to strengthen research, trial readiness, Member State participation and progress towards approval and clinical use. The main achievements were:
* Consolidated evidence on funding, manufacturing, regulation, trial readiness and data barriers across multiple stakeholders from patient advocacy groups, academia, healthcare, industry and EU institutions.
* Linked discovery, product profiling, regulation, manufacturing, clinical development and implementation around patient benefit.
* Recommended shared scientific, manufacturing, regulatory and methodological platforms with earlier regulatory engagement.
* Identified registries, interoperable data, biobanks, standards, consent and multidisciplinary capacity as prerequisites for clinical trials.
* Emphasised natural history, suitable endpoints, biomarkers, patient-reported outcomes and real-world evidence.
* Confirmed the need for cross-border collaboration and recognised smaller Member States’ families, registries, laboratories and specialist clinics.

Progress beyond the state of the art and expected potential impact (including the socio-economic impact and the wider societal implications of the project so far)

Five sessions and panel discussions examined barriers from discovery to healthcare delivery and produced recommendations for European and national stakeholders. The resulting framework links knowledge, infrastructure, networks and policy to accelerate patient-relevant rare-disease therapies.
Potential impacts: Earlier alignment on unmet needs, product profiles, regulation, manufacturing and meaningful outcomes can improve translation. Shared platforms, registries, biobanks, interoperable data and multinational networks can reduce duplication and strengthen recruitment and evidence. Early regulatory and manufacturing support can advance academic discoveries, while coordinated clinical and real-world data can support assessment, reimbursement and sustainable delivery. Integrating smaller Member States can expand expertise, trial access, diagnosis and care.
Key uptake needs: Invest in disease mechanisms, natural history, biomarkers, outcomes, patient stratification and validation. Pilot the framework using indicators for translation, trial readiness, interoperability and patient benefit, supported by sustainable infrastructure and multidisciplinary expertise. Blended finance should bridge proof of concept and investment, alongside early planning for scale-up, assessment, reimbursement and access. Future projects also require clear intellectual-property arrangements, international collaboration, early scientific advice, proportionate regulation, common data standards, trusted consent and clear secondary-use rules.
The conference prioritised patient needs, product profiles, natural history, endpoints, interoperable data, shared platforms, regulatory support, trial networks, adapted assessment and real-world outcomes. Uptake requires funded pilots, sustainable infrastructure, harmonised standards, supportive regulation and finance, and accountable roadmaps.