Scientific Poster Presentation

Logo for Usher Syndrome Ireland is alongside the poster title. The poster contains the following text:

Poster Title:  Improving Data Collection for Usher Syndrome: Towards an Integrated, Patient-Centred Registry in Ireland

Introduction:

Usher syndrome (USH) is a rare genetic condition that causes combined hearing and vision loss. In Ireland, an estimated 200–260 individuals are affected, but data on prevalence, disease progression, and patient experience remains fragmented.

Why This Matters:

Robust data is essential for planning services, evaluating therapies, and supporting clinical research. This study explores the potential for an integrated data registry and identifies solutions to overcome barriers to effective data collection.

Objectives:

• Investigate the feasibility of an Usher syndrome registry in Ireland
• Review existing data collections and gaps
• Gather stakeholder insights and community perspectives

Methods:

• Literature and database review
• 8 key opinion leader interviews (Ireland, UK, US, Canada, Netherlands)
• Online survey with 19 respondents (patients and caregivers)
• Stakeholder-driven recommendations

Key Findings:

Current Limitations:

• Fragmented care and siloed data (ophthalmology, audiology)
• Inconsistent access to genetic testing
• Few resources capture both hearing and vision progression
• No comprehensive registry in Ireland

Community Priorities:

• Cure for blindness & reversing sight loss
• Access to therapies & clinical trials
• Better disease management and understanding

Strong Support for a Registry:

• 100% of survey respondents willing to contribute data
• Preferred home-based participation with 3–6 month updates

Registry Design Principles:

• Begin with a national patient registry, scalable to Europe
• Collect patient-reported data initially
• Focus on accessibility (e.g., screen readers, speech-to-text, proxy input)

Patient-Centred Governance:

• Led by patient organisations, with clinician/research oversight
• Emphasis on transparency and regular engagement
• Collaborative Opportunities:
• Leverage existing platforms
• Promote multidisciplinary care models
• Explore GUIDs (Global Unique Identifiers) for data linkage

Conclusion:

This study reveals a strong need for comprehensive data collection for people with Usher syndrome in Ireland. Without a registry, opportunities for research, services, and clinical trials remain limited. There is widespread community support for a registry—especially one that is accessible and provides feedback. A well-designed registry would improve trial readiness, support policy-making, and amplify the patient voice. Next steps include piloting a patient-friendly registry, engaging underserved groups, and developing multidisciplinary clinics that integrate hearing and vision care. Long-term success depends on international collaboration.

Authors: Jackie Boylan¹, Carol Brill², David Ashley², Kirk Stephenson³, Jackie Turner⁴, Michel Michaelides⁵, Erwin van Wijk⁶, Ronald Pennings⁶, Conan Donnelly¹

Affiliations: 

¹Connect Research Armagh, NI

²Usher Syndrome Ireland

³The Hospital for Sick Children, Toronto, CA

⁴Mater Misericordiae University Hospital Dublin, IRL

⁵Moorfields Eye Hospital London, UK

⁶Radboud UMC, Nijmegen, NL

Supported by:

Kindly supported by a grant from the Hospital Saturday Fund.