The Charlotte Project: Recommendations for patient-reported outcomes and clinical parameters in Dravet syndrome through a qualitative and Delphi consensus study.

Autor:	Aledo-Serrano Á; Epilepsy Program, Neurology Department, Ruber Internacional Hospital, Madrid, Spain., Mingorance A; Dracaena Consulting SL, Loulou Foundation, London, United Kingdom., Villanueva V; Hospital Universitario y Politécnico La Fe, Valencia, Spain., García-Peñas JJ; Hospital Infantil Universitario Niño Jesús, Madrid, Spain., Gil-Nagel A; Epilepsy Program, Neurology Department, Ruber Internacional Hospital, Madrid, Spain., Boronat S; Hospital de la Santa Creu i Sant Pau, Barcelona, Spain., Aibar J; Fundación Síndrome de Dravet, Madrid, Spain., Cámara S; Hospital Infantil Universitario Niño Jesús, Madrid, Spain., Yániz MJ; Clínica Universidad Navarra, Pamplona, Spain., Aras LM; Apoyo Dravet, San Sebastian, Spain., Blanco B; Hospital Universitario Virgen del Rocío, Seville, Spain., Sánchez-Carpintero R; Clínica Universidad Navarra, Pamplona, Spain.
Jazyk:	angličtina
Zdroj:	Frontiers in neurology [Front Neurol] 2022 Sep 01; Vol. 13, pp. 975034. Date of Electronic Publication: 2022 Sep 01 (Print Publication: 2022).
DOI:	10.3389/fneur.2022.975034
Abstrakt:	Objective: The appropriate management of patients with Dravet Syndrome (DS) is challenging, given the severity of symptoms and the burden of the disease for patients and caregivers. This study aimed to identify, through a qualitative methodology and a Delphi consensus-driven process, a set of recommendations for the management of DS to guide clinicians in the assessment of the clinical condition and quality of life (QoL) of DS patients, with a special focus on patient- and caregiver-reported outcomes (PROs). Methods: This study was conducted in five phases, led by a multidisciplinary scientific committee (SC) including pediatric neurologists, epileptologists, a neuropsychologist, an epilepsy nurse, and members of DS patient advocates. In phases 1 and 2, a questionnaire related to patients' QoL was prepared and answered by caregivers and the SC. In phase 3, the SC generated, based on these answers and on a focus group discussion, a 70-item Delphi questionnaire, covering six topic categories on a nine-point Likert scale. In phase 4, 32 panelists, from different Spanish institutions and with a multidisciplinary background, answered the questionnaire. Consensus was obtained and defined as strong or moderate if ≥80% and 67-79% of panelists, respectively, rated the statement with ≥7. Phase 5 consisted of the preparation of the manuscript. Results: The panelists agreed on a total of 69 items (98.6%), 54 (77.14%), and 15 (21.43%) with strong and moderate consensus, respectively. The experts' recommendations included the need for frequent assessment of patient and caregivers QoL parameters. The experts agreed that QoL should be assessed through specific questionnaires covering different domains. Likewise, the results showed consensus regarding the regular evaluation of several clinical parameters related to neurodevelopment, attention, behavior, other comorbidities, and sudden unexpected death in epilepsy (SUDEP). A consensus was also reached on the instruments, specific parameters, and caregivers' education in the routine clinical management of patients with DS. Conclusions: This consensus resulted in a set of recommendations for the assessment of clinical and QoL parameters, including PROs, related to the general evaluation of QoL, neurodevelopment, attention, behavior, other comorbidities affecting QoL, SUDEP, and QoL of caregivers/relatives and patients with DS. Competing Interests: Author ÁA-S has received funding for educational and research activities from Angelini, Zogenix, UCB, PTC pharma, Blueprint genetics, GW, Eisai. Author AG-N has received advisory or research funds by Arvelle/Angelini, Bial, Biocodex, EISAI, Esteve, GW Pharma, Jazz Pharmaceuticals, PTC Therapeutics, Stoke, UCB Pharma and Zogenix. Author JA is president of the Dravet Syndrome Foundation Spain (DSF). He and/or the DSF have received grants and/or financial support from GW Pharma, Zogenix, Ovid Therapeutics, Encoded Therapeutics, Biocodex, Praxis, Health in Code, Takeda, UCB, Epygenix, Jazz Pharmaceuticals and StrideBio to help carry out some of the DSF's foundational activities or provide consulting services. Author JA honoraria have always been donated directly or indirectly to the DSF. Author RS-C has been a trial investigator for GW Pharmaceuticals, Takeda Pharmaceutical Company Ltd. Author and Zogenix and has served on advisory boards for Novartis, GW Pharmaceuticals, Biocodex and Zogenix. Author JG-P has received advisory or lecture funds by BIAL, EISAI, GW, NUTRICIA, SANOFI, UCB and ZOGENIX. VV has participated in advisory boards and symposia organized by Angellini, Bial, Eisai Inc., GW pharma, Novartis, Takeda, UCB, Zogenix. Author AM was employed by Dracaena Consulting SL. Author LA was employed by Apoyo Dravet. The remaining authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest. (Copyright © 2022 Aledo-Serrano, Mingorance, Villanueva, García-Peñas, Gil-Nagel, Boronat, Aibar, Cámara, Yániz, Aras, Blanco and Sánchez-Carpintero.)
Databáze:	MEDLINE
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