New Study Exposes Diagnostic Delays and Disease Burden in Europe
The 15th European Epilepsy Congress has underscored significant delays in diagnosing Lennox-Gastaut syndrome (LGS) and the substantial disease burden from both seizure and non-seizure impairments. This severe childhood-onset developmental and epileptic encephalopathy, characterised by a range of seizure types, demands more effective treatment solutions to enhance long-term patient outcomes.
Lengthy Diagnosis Delays
The recent data presented from the Adelphi LGS Disease Specific Programme™ (DSP) reveals that European patients face considerable delays in receiving a correct LGS diagnosis. The study, which involved 454 pediatric and adult LGS patients across Europe, found that it takes an average of 12.3 months from the onset of the first seizure—typically occurring at around 4 years of age—to receive a definitive diagnosis. This prolonged wait underscores the critical need for faster and more accurate diagnostic processes for LGS.
Ongoing Treatment Challenges
Despite the fact that patients are prescribed an average of 3.4 antiseizure medications daily, significant treatment challenges persist. The study highlights several key issues:
- 71% of patients (N=324/454) experienced at least one comorbidity, including psychomotor or cognitive impairment, attention deficit hyperactivity disorder (ADHD), and sleep disorders or insomnia.
- 19% of patients experienced severe physical impairment, while 28% faced very severe mental impairment, many of which continue into adulthood.
- 47% of patients reported a quality of life that is at least somewhat poor.
- Daytime seizures were identified as having the greatest impact on quality of life for 39% of patients.
These results underscore the urgent need for novel treatments that can target not only drug-resistant seizures but also the full range of symptoms associated with LGS.
Expert Commentary
Dr Konrad Werhahn from UCB’s Global Medical Affairs remarked on the findings: “LGS has a profound impact that goes well beyond seizures, affecting patients with significant cognitive impairments, challenges in communication, psychiatric issues, behavioral difficulties, and problems with mobility. This multifaceted condition imposes a heavy burden on both patients and their families. At UCB, we recognise the importance of a multidisciplinary, personalised approach to care that addresses the medical, educational, psychological, and social needs of patients throughout their lives.”
Global Context and Unmet Needs
LGS affects approximately one million people worldwide. However, diagnosing this complex condition remains challenging due to the absence of specific biological markers, multiple potential causes, and varied symptom presentations. While several approved drugs offer some relief, there remains a significant unmet need for treatments that provide sustained long-term benefits. Current therapies often fail to effectively target both seizures and non-seizure symptoms, highlighting the need for innovative treatments to improve patient prognosis.
New Diagnostic Tool
In addition to the treatment challenges, the Congress also introduced a new electronic decision-assisting tool designed to aid healthcare professionals in diagnosing LGS. Developed by a team of ten epilepsy experts and funded by UCB (without influencing content), this tool uses International League Against Epilepsy (ILAE) diagnostic criteria to assess the likelihood of LGS. The tool’s prototype will undergo testing and validation before it is made available for clinical use, offering a potentially valuable resource for improving diagnostic accuracy and patient care.
