Joseph Sullivan, MD, Professor of Neurology and Pediatrics at the University of California at San Francisco, discusses the results of the BUTTERFLY clinical trial in pediatric patients with Dravet syndrome.
Dravet syndrome is the most severe of a group of conditions known as SCN1A-related seizure disorders. Symptoms include seizures which first occur in infancy that are often triggered by high temperatures (febrile seizures). In childhood, many types of seizures may occur and they may increase in frequency. Seizures may be difficult to treat. Other symptoms include loss of motor skills, intellectual disability, speech impairment, and difficulty with movement. Most cases of Dravet syndrome occur when the SCN1A gene is not working correctly.
The BUTTERFLY study was a US-based, multicenter, longitudinal, observational, natural history study in patients with Dravet syndrome receiving standard-of-care treatment. The study aimed to assess changes in adaptive functioning and neurodevelopment over 24 months in patients with Dravet syndrome. The results were recently published in Neurology Journals.
Of the 36 patients between the ages of 2 to 18 years, 21 completed the study. Disease progression modeling indicated no significant improvements in 4 of 6 Vineland-3 subdomains analyzed over 24 months. Receptive Communication and Coping Skills subdomains showed significant improvements. However, for Receptive Communication, this improvement translated to a magnitude of only approximately 3 months in developmental progression over the 24-month period. Bayley Scales of Infant Development III and Wechsler Preschool and Primary Scale of Intelligence IV subtests did not show any significant improvement.
These results suggest that even when treated with the best available anti-seizure medicines, children with Dravet syndrome continued to experience frequent seizures and plateaued at the developmental age of approximately two years old, regardless of the age at which they entered the study. This indicates the need for targeted therapies that address the underlying genetic cause of disease to improve long-term outcomes.
To learn more about Dravet syndrome and other rare neurology diseases, visit https://checkrare.com/diseases/neurology-nervous-system-diseases/