The first patient has been enrolled in the BUTTERFLY study, which aims to characterize features of Dravet syndrome in children and adolescents.
BUTTERFLY is an observational study, which means that enrolled patients won’t be given experimental or other treatments. Rather, they will be “observed” in order to better understand the symptoms and comorbidities associated with Dravet syndrome.
Specifically, the study will evaluate how often participants experience seizures; it will also assess non-seizure features like movement impairment, speech difficulty, irregular sleep patterns, and intellectual, behavioral, and developmental abnormalities.
The study will include about 36 children between the ages of 2 and 18 diagnosed with Dravet syndrome as a result of a mutation in the SCN1A gene. Participants will receive standard-of-care and will be followed for up to two years. The study plans to enroll patients at about 20 sites in the United States and require six site visits.
Data from the study will help guide development plans for STK-001, a RNA-based investigational compound developed by Stoke that aims to correct the underlying genetic cause of Dravet syndrome. Mouse studies using the same biochemical strategy have yielded promising results, and STK-001 was recently granted orphan drug status by the U.S. Food and Drug Administration (FDA).
“Our goal is to develop the first medicine to treat the underlying cause of Dravet syndrome,” said Barry Ticho, MD, PhD, the chief medical officer of Stoke Therapeutics. “Although this study will not evaluate potential new medicines for Dravet, we believe it will provide important information about the range of effects of the disease on children and young adults that will be useful in planning for the clinical development of STK-001, our lead therapeutic candidate.”
Added Joseph Sullivan, MD, a professor at the University of California San Francisco and director of the Benioff Children’s Hospital Pediatric Epilepsy Center of Excellence: “Increased awareness, along with more widespread availability of genetic testing, have allowed us to diagnose genetic epilepsies like Dravet syndrome earlier, allowing physicians to help patients and their families better manage the disease. We have made significant progress in understanding the genetic basis of many childhood epilepsies, but we still do not completely understand the full spectrum or impact of the disease.
“This study will give us new insights that will help us better care for our patients and improve our research and development efforts for potential new medicines with the goal of improving outcomes beyond seizure control.”
Information about enrollment in the study can be obtained by emailing [email protected] Iqvia, a healthcare solutions company, specializes in “virtual” or “hybrid” clinical trials, with a goal of increasing participation by making them more convenient for patients.