TY - JOUR
T1 - DRAVET ENGAGE. Parent caregivers of children with Dravet syndrome
T2 - Perspectives, needs, and opportunities for clinical research
AU - Juandó-Prats, Clara
AU - James, Emma
AU - Bilder, Deborah A.
AU - McNair, Lindsay
AU - Kenneally, Noah
AU - Helfer, Jennifer
AU - Huang, Norman
AU - Vila, Maria Candida
AU - Sullivan, Joseph
AU - Wirrell, Elaine
AU - Rico, Salvador
N1 - Funding Information:
Dr. Juandó-Prats and Dr. Kenneally received funding from Encoded Therapeutics to conduct the data analysis and observations in this study. Dr. Bilder is a consultant for Encoded Therapeutics, BioMarin Pharmaceuticals, and a member of the Scientific Advisory Board for Taysha GTx. Dr. McNair reports no conflicts of interest. Joseph Sullivan reports contract research for Zogenix, Stoke Therapeutics, Marinus Pharmaceuticals, Bio-pharm Solutions, and Encoded Therapeutics; consulting for Encoded Therapeutics, Greenwich Biosciences, Xenon Pharma, Epygenix Therapeutics, Invitae, Knopp Biosciences, and the Epilepsy Study Consortium; stock options in Epygenix Therapeutics; and board membership at the Dravet Syndrome Foundation and its Medical Advisory Board; the PCDH19 Alliance Scientific Advisory Board (Chair); and the Epilepsy Foundation of Northern California. Dr. Wirrell consulting for Encoded Therapeutics. Drs. James, Huang, Vila, Helfer and Rico are employees of and hold stock options in Encoded Therapeutics. Dr. Helfer also holds stock in bluebird bio, Inc.
Funding Information:
The authors thank the parents of children living with Dravet syndrome who generously shared their time and their experiences caring for their children, the Dravet Syndrome Foundation (USA) for support with recruitment for the focus group and interview discussions and in the drafting and fielding of the caregiver survey, and Dravet Syndrome UK for support with recruitment for the focus group and interview discussions. The authors would also like to thank Shawn Jones, Magda Morton, and VOZ Advisors for support in running the virtual meeting (paid for by Encoded Therapeutics). We thank Laurie LaRusso, MS, ELS, for medical writing support. This work was supported by Encoded Therapeutics, Inc., South San Francisco, CA, USA, Dr. Juand?-Prats and Dr. Kenneally received funding from Encoded Therapeutics to conduct the data analysis and observations in this study. Dr. Bilder is a consultant for Encoded Therapeutics, BioMarin Pharmaceuticals, and a member of the Scientific Advisory Board for Taysha GTx. Dr. McNair reports no conflicts of interest. Joseph Sullivan reports contract research for Zogenix, Stoke Therapeutics, Marinus Pharmaceuticals, Bio-pharm Solutions, and Encoded Therapeutics; consulting for Encoded Therapeutics, Greenwich Biosciences, Xenon Pharma, Epygenix Therapeutics, Invitae, Knopp Biosciences, and the Epilepsy Study Consortium; stock options in Epygenix Therapeutics; and board membership at the Dravet Syndrome Foundation and its Medical Advisory Board; the PCDH19 Alliance Scientific Advisory Board (Chair); and the Epilepsy Foundation of Northern California. Dr. Wirrell consulting for Encoded Therapeutics. Drs. James, Huang, Vila, Helfer and Rico are employees of and hold stock options in Encoded Therapeutics. Dr. Helfer also holds stock in bluebird bio, Inc.
Funding Information:
This work was supported by Encoded Therapeutics, Inc. , South San Francisco, CA, USA
Publisher Copyright:
© 2021 The Authors
PY - 2021/9
Y1 - 2021/9
N2 - Dravet syndrome (DS) is an intractable developmental and epileptic encephalopathy significantly impacting affected children and their families. A novel, one-time, adeno-associated virus (AAV)-mediated gene regulation therapy was designed to treat the underlying cause of DS, potentially improving the full spectrum of DS manifestations. To ensure the first-in-human clinical trial addresses meaningful outcomes for patients and families, we examined their perspectives, priorities, goals, and desired outcomes in the design phase through a mixed methods approach (quantitative and qualitative). We conducted a non-identifiable parent caregiver survey, shared through a patient advocacy organization (n = 36 parents; children age ≤6 years). Parents were also engaged via three group discussions (n = 10; children age 2–20 years) and optional follow-up in-depth individual interviews (n = 6). Qualitative data analysis followed an inductive interpretive process, and qualitative researchers conducted a thematic analysis with a narrative approach. Survey results revealed most children (94%) were diagnosed by age 1, with onset of seizures at mean age 6.2 months and other DS manifestations before 2 years. The most desired disease aspects to address with potential new disease-modifying therapies were severe seizures (ranked by 92% of caregivers) and communication issues (development, expressive, receptive; 72–83%). Qualitative results showed the need for trial outcomes that recognize the impact of DS on the whole family. Parents eventually hope for trials including children of all ages and were both excited about the potential positive impact of a one-time disease-modifying therapy and mindful of potential long-term implications. Participants reflected on the details and risks of a clinical trial design (e.g., sham procedures) and described the different factors that relate to their decision to participate in a trial. Their main aspirations were to stop neurodevelopmental stagnation, to reduce seizures, and to reduce the impact on their families' wellbeing. To our knowledge, this is the first study within a patient-oriented research framework that specifically explored parents’ needs and perceptions regarding clinical trials of a potential disease-modifying therapy for children with a severe, developmental disease, such as DS.
AB - Dravet syndrome (DS) is an intractable developmental and epileptic encephalopathy significantly impacting affected children and their families. A novel, one-time, adeno-associated virus (AAV)-mediated gene regulation therapy was designed to treat the underlying cause of DS, potentially improving the full spectrum of DS manifestations. To ensure the first-in-human clinical trial addresses meaningful outcomes for patients and families, we examined their perspectives, priorities, goals, and desired outcomes in the design phase through a mixed methods approach (quantitative and qualitative). We conducted a non-identifiable parent caregiver survey, shared through a patient advocacy organization (n = 36 parents; children age ≤6 years). Parents were also engaged via three group discussions (n = 10; children age 2–20 years) and optional follow-up in-depth individual interviews (n = 6). Qualitative data analysis followed an inductive interpretive process, and qualitative researchers conducted a thematic analysis with a narrative approach. Survey results revealed most children (94%) were diagnosed by age 1, with onset of seizures at mean age 6.2 months and other DS manifestations before 2 years. The most desired disease aspects to address with potential new disease-modifying therapies were severe seizures (ranked by 92% of caregivers) and communication issues (development, expressive, receptive; 72–83%). Qualitative results showed the need for trial outcomes that recognize the impact of DS on the whole family. Parents eventually hope for trials including children of all ages and were both excited about the potential positive impact of a one-time disease-modifying therapy and mindful of potential long-term implications. Participants reflected on the details and risks of a clinical trial design (e.g., sham procedures) and described the different factors that relate to their decision to participate in a trial. Their main aspirations were to stop neurodevelopmental stagnation, to reduce seizures, and to reduce the impact on their families' wellbeing. To our knowledge, this is the first study within a patient-oriented research framework that specifically explored parents’ needs and perceptions regarding clinical trials of a potential disease-modifying therapy for children with a severe, developmental disease, such as DS.
KW - Caregiver perspectives
KW - Clinical trial
KW - Dravet syndrome
KW - Gene therapy
KW - Patient and caregiver engagement
UR - http://www.scopus.com/inward/record.url?scp=85110329775&partnerID=8YFLogxK
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U2 - 10.1016/j.yebeh.2021.108198
DO - 10.1016/j.yebeh.2021.108198
M3 - Article
C2 - 34284219
AN - SCOPUS:85110329775
VL - 122
JO - Epilepsy and Behavior
JF - Epilepsy and Behavior
SN - 1525-5050
M1 - 108198
ER -