In today’s ever-evolving healthcare landscape, patient registries are becoming valuable tools that reshape our understanding, treatment, and management of rare diseases. These centralised stores of detailed patient data—from demographics to medical histories, genetic profiles, treatments, and outcomes—empower researchers and clinicians to delve deeper into disease patterns, uncover correlations, and identify potential personalised treatment strategies. 

Our PPI Panel member, Colette Delahunt’s, journey highlights the profound impact of patient registries. For 14 years, she tirelessly sought answers for her son Sean, who battled severe epilepsy, alongside intellectual disability without a diagnosis. 

“The lack of diagnosis left us feeling isolated. We faced daily challenges without knowing the cause, treatments, or long-term outlook – we felt like we were navigating in the dark,” says Colette.

Colette with her son Sean

The Role of Patient Registries in Rare Diseases 

At FutureNeuro, our clinical researchers are spearheading patient registries for rare genomic diseases. These initiatives, like the Epilepsy Associated Gene Ready Register (EAGER) led by Professor Norman Delanty, focus on collecting vital information from patients with genetic epilepsies. They will help to identify patients who could benefit from new precision or targeted treatments, addressing both symptoms and, in some cases, the root genetic causes. 

“In pediatric neurology, especially with epilepsies, many conditions are single-gene disorders. A lot of work is being done on trials, making it crucial to have a registry of diagnosed patients. Knowing their specific genetic mutations allows us to quickly identify candidates for clinical trials or new treatments.” 

“Patient registries also allow us to offer participation in other studies, such as our upcoming research on sleep and neurodevelopmental disorders,” notes Dr. Susan Byrne. 

In 2023, our clinical researcher, Dr Susan Byrne, together with Dr Janna Kenny, a clinical geneticist at CHI established the Collaboration of Intervention in Genomic Disorder in Ireland (CINDI) registry for children with neurogenetic conditions. It serves a dual purpose, capturing information on patients with both known and unknown diagnoses. In just eight months, over sixty children have already been recruited.  

Colette recalls the relief when Sean finally received a diagnosis through a genetic clinical research study called ‘The Lighthouse Project’.  

“Having Sean’s information on registries is vital. It fuels research and could lead to breakthroughs in treatments and trials. This possibility represents immense hope for us and could potentially have significant benefits for Sean and his future”, she emphasises. 

Advancing Precision Medicine 

Advances in precision medicine offer hope for treating conditions like Sean’s epilepsy more effectively.  

“We are moving away from crude anti-seizure medications that don’t address the root cause of the condition, towards new or repurposed drugs and gene therapies specifically designed for targeted treatment,” says Prof. Norman Delanty. 

Drugs like Everolimus, which works by inhibiting the activity of a protein called mTOR (mammalian target of rapamycin), regulating cell growth and survival, illustrate this potential. It is used to treat a range of conditions including kidney and breast cancer, tuberous sclerosis complex (TSC) and more recently has been repurposed for a rare genetic epilepsy called GATOR1-related epilepsy. In rare genetic epilepsies, where certain mutations lead to abnormal activation of mTOR signaling, Everolimus helps restore balance by dampening this overactivity. This targeted approach not only reduces the frequency and severity of seizures but also minimizes side effects compared to broad-spectrum treatments. 

Prof Norman Delanty and Ben Lagarde

Ben Lagarde, Clinical Research Assistant for EAGER, echoes this sentiment:

“This role lets me contribute to epilepsy research and improve patient care through targeted therapies.” 

Colette explains how being able to link all of Sean’s symptoms was crucial not only for understanding the complexities of his condition, but also for connecting with support and research groups dedicated to his specific gene-related disorder.  

“Precision medicine promises hope for Sean’s future and others like him,” Colette shares. 

Colette and Sean with their family

Looking Ahead  

Looking ahead, FutureNeuro aims to expand EAGER and CINDI, collaborating both nationally globally to diagnose more conditions and explore effective treatments. We also hope to involve more patients and families as key stakeholders in the registries’ implementation through PPI activities. 

“For undiagnosed patients who are part of CINDI, our aim is to use a multi-omics approach to eventually diagnose their condition. For this collaboration is crucial. We aim to connect with other researchers and registries around the world, including the European Reference Network. With greater numbers comes greater power to diagnose conditions and explore effective treatments”, Susan adds. 

 As these patient registries evolve into robust networks, integrating them into national health systems becomes crucial. FutureNeuro advocates for a patient-centered approach, inviting families to guide these initiatives and ensure their long-term success. For more on EAGER and CINDI and how to participate, visit our website or contact Ben (EAGER) at benlagarde@rcsi.ie and Susan (CINDI) at suabyrne@rcsi.ie.