BEYOND BORDERS:

THE GAME-CHANGING PROMISE OF A GLOBAL PATIENT REGISTRY IN SHAPING RARE DISEASE RESEARCH

A Multilingual Registry enabling participation, empowering research, and enhancing understanding for Angelman syndrome. A global and multilingual patient registry is essential for advancing research and gaining a better understanding of rare diseases. Angelman syndrome (AS) is a rare neurogenetic disorder affecting around 500,000 individuals worldwide.

Caused by a loss of function in the UBE3A gene on the maternal 15th chromosome, AS often manifests in individuals with impaired motor skills, balance issues, debilitating seizures, limited mobility, and disrupted sleep patterns. Individuals with AS require constant care and cannot live independently. They exhibit distinct behavioural traits, such as a joyful disposition, frequent laughter, smiles, and excitability.

Traditionally, rare disease data has been collected at specialty clinics, which have played a crucial role in gathering information. Whilst clinician entered data remains critical to understanding rare disease populations, the limited prevalence of rare diseases and concentrated clinics in specific regions pose challenges in obtaining large scale, comprehensive and diverse data.

Global disease registries are vital for capturing standardised patient information and enabling patients and their families to provide data in a safe, accessible, and engaging manner. The Global Angelman Syndrome Registry (GASR) is an exemplary web-based, multilingual platform that allows caregivers worldwide to take part. The registry collects data through online modules, including baseline and longitudinal assessments.

The Trial-Ready Registry (TRRF) Framework, an opensource infrastructure supporting GASR, evolved from the Rare Disease Registry Framework developed by the Centre for Comparative Genomics at Murdoch University. It represents an adaptation of the original framework to meet the unique demands of conducting clinical trials for rare diseases. The open-source framework offers transparency, collaboration, long-term sustainability, and fosters innovation and knowledge sharing. This framework enables the sharing of development efforts and features across multiple patient registries, resulting in enhanced cost-effectiveness.

Rare disease registries face challenges such as low participation rates (relative to expected disease prevalence), achieving full completion rates, changing data privacy regulations, and the emergence of new studies leading to additional data silos. GASR adopts an ongoing comprehensive approach to mitigate and address these challenges including raising awareness, enhancing accessibility, reducing participant burden, ensuring data privacy compliance, fostering collaboration, and engaging with patient communities and advocacy groups.

Language barriers often hinder participation in global digital health platforms, as English is typically the default language. To overcome this, GASR implemented crowdsourcing and machine translation tools, making the platform accessible in Spanish, Traditional Chinese, Italian, and Hindi. This approach significantly increased enrolments and expanded data contributions from various regions worldwide.

Collaboration with the Rare Disease Cures AcceleratorData and Analytics Platform (RDCA-DAP®) further enhances GASR’s impact. Through this collaboration, GASR contributes deidentified data to a larger cohort of rare diseases, accelerating research and facilitating the development of treatments and cures. By pooling resources and data from different rare diseases, this partnership drives advancements in rare disease therapeutics.

The GASR has many opportunities for growth, including expanding translations to reach a wider audience and integrating clinical trial and clinician-entered data from other Angelman syndrome studies. The comprehensive approach employed by the GASR creates opportunities for utilising patient data as controls in future studies and trials. By collecting and analysing a wide range of patient data, the registry can potentially contribute to the development of control groups in future research and clinical trials.

In summary, the GASR is an innovative platform that revolutionises data collection and analysis for AS. It serves as a global, multilingual patient registry that empowers caregivers to contribute valuable information in a secure and user-friendly manner. By leveraging an open-source framework, GASR not only facilitates collaboration, continuous development, and innovation but also ensures that data is freely and openly available for anyone wishing to advance research and understanding in Angelman syndrome. Through comprehensive approaches including translations, collaborations, and data integration, the registry serves as an exemplar model, significantly contributing to our knowledge of rare diseases, including their causes, disease trajectory, and treatment.

Further information – www.angelmanregistry.info

Author: Meagan Cross is the founder, and Chief Executive Officer of the Foundation for Angelman Syndrome Therapeutics Australia. With personal experience as a parent of a child diagnosed with Angelman syndrome, she passionately advocated for creating a global webbased platform.