by Raphael Wurm
This EAN TV session, in cooperation with the European Federation of Neurological Associations (EFNA), set the spotlight on the patient’s perspective in rare neurological diseases.
All panelists shared deeply personal accounts of their experiences of living with a rare neurological condition or caring for someone close who does. Specifically, this session picked up the conference’s theme and discussed how novel technologies and improved clinical trial design could benefit the often underserved rare diseases.
José Ángel Aibar, representing the Dravet Syndrome Foundation Spain, emphasized the severe impact of constant fear and nighttime seizures on parental sleep. He noted that improvements in automated seizure detection could help parents rest more easily, since timely detection of these seizures is critical in preventing sudden unexplained death in epilepsy. Albar also pointed out that while treatment options have improved, there remains a stark inequality in access between Western and Eastern European countries.
Next, John Gerbild, deputy treasurer of EURORDIS, an umbrella group of more than 1,000 rare-disease patient organizations, addressed the challenges faced by people living with ataxia. Due to its clinical heterogeneity, diagnosis is often delayed; sometimes this lag can extend up to eight years. One way to improve this could be through digital gait measurements and AI-augmented analysis. He also noted that AI could help in delivering exoskeleton technology to patients. Lastly, novel technologies could be used to help preserve speech, something that is especially disabling for people living with ataxia.
Arabela Acalinei, representing the European Alliance of Neuromuscular Disorders Associations, explained how wearables and digital phenotyping can help clinicians and researchers capture continuous real-world data. When used correctly, this could help establish decentralized clinical trials, greatly reducing the travel and financial burdens on rural families. This is, of course, especially important for people living with rare diseases, since approved treatments are often scarce.
In summary, the session underscored that while rare diseases face unique diagnostic and clinical challenges, novel technologies offer a sliver of hope to communities. Validating digital endpoints and secure AI tools could fundamentally transform trial efficiency and, eventually, the quality of life for patients and their loved ones.
Watch the session below, or on our Vimeo channel, here: EFNA: Epidemiology, diagnosis and trials for rare neurology
