The Feasibility of Personalized Endpoints in Assessing Treatment Outcomes in Rare Disease: A Pilot Study of Goal Attainment Scaling in SCN2A-Associated Developmental Epileptic Encephalopathy

Gunes Sevinc; Kari Knox; Michelle George; Lindsey Evans; Ariela Kaiser; Katherine Charlotte Paltell; Leah Schust Myers; Natasha N Ludwig; Mary Wojnaroski; Gabrielle Conecker; JayEtta Hecker; Jenny Downs; Chere At Chapman; Anne T Berg

doi:10.1016/j.jval.2024.12.004

The Feasibility of Personalized Endpoints in Assessing Treatment Outcomes in Rare Disease: A Pilot Study of Goal Attainment Scaling in SCN2A-Associated Developmental Epileptic Encephalopathy

Value Health. 2024 Dec 27:S1098-3015(24)06795-0. doi: 10.1016/j.jval.2024.12.004. Online ahead of print.

Authors

Affiliations

¹ Ardea Outcomes, Halifax, Nova Scotia, Canada. Electronic address: gunes.sevinc@ardeaoutcomes.com.
² Ardea Outcomes, Halifax, Nova Scotia, Canada.
³ Illinois Institute of Technology, Department of Psychology, Chicago, IL, USA.
⁴ University of Illinois at Chicago, Chicago, IL, USA.
⁵ FamilieSCN2A Foundation, E. Longmeadow, MA, USA.
⁶ Kennedy Krieger Institute/Johns Hopkins School of Medicine, Department of Neuropsychology/Psychiatry and Behavioral Sciences, Baltimore, MD, USA.
⁷ Nationwide Children's Hospital, Department of Psychology & Ohio State University, Psychiatry and Behavioral Health, Columbus, OH, USA.
⁸ Decoding Developmental Epilepsies - DEE-P Connections; Washington, DC, USA.
⁹ The Kids Research Institute Australia, Centre for Child Health Research, The University of Western Australia, Perth, Australia; Curtin School of Allied Health, Curtin University, Perth, Australia.
¹⁰ FamilieSCN2A Foundation, E. Longmeadow, MA, USA; Decoding Developmental Epilepsies - DEE-P Connections; Washington, DC, USA; Northwestern Feinberg School of Medicine, Dept. Neurology, Chicago, IL, USA.

PMID: 39733836
DOI: 10.1016/j.jval.2024.12.004

Abstract

Objectives: For individuals living with rare neurodevelopmental disorders, especially those who are at the most severe end of the spectrum, standardized outcome measures may lack the sensitivity to capture small but meaningful changes. Personalized endpoints such as Goal Attainment Scaling (GAS) allow the assessment of treatment response across variable baseline states and disease manifestations and thus provide a highly sensitive measure of efficacy. The current study tested the feasibility of using GAS in rare SCN2A-associated developmental and epileptic encephalopathy (SCN2A-DEE).

Methods: The caregivers of 10 individuals with SCN2A-DEE (M_age=8.2 years, SD=5.62, range 3.4-20.4; N_male=8) took part in in-person goal-setting and remote follow-up interviews facilitated by four clinical researchers. Implementation was standardized using clinician training, patient orientation, and an electronic data capture platform, GoalNav®; surveys were used to evaluate implementation.

Results: All 10 caregivers completed the goal-setting interviews, were able to set, scale three goals, and assess attainment levels at follow-up interviews. The mean (SD) times to conduct the goal-setting and follow-up interviews were 59.4 (14.5) and 18.4 (10.5) minutes, respectively. Participants set a variety of goals relating to communication (n=10), feeding (n=4), gross and fine motor abilities (n=6), behavior (n=5), gastrointestinal function (n=3), sleep (n=1), and seizures (n=1). Data completeness, interview time, and the presence of high-quality goals (29/30) indicated the feasibility of using GAS in this population, while survey responses indicated its acceptability.

Conclusions: This pilot project provided evidence supporting the feasibility of GAS as a method for assessing treatment outcomes for patients with rare neurodevelopmental disorders.

Keywords: Clinical Outcomes; Developmental and Epileptic Encephalopathy; Goal Attainment Scaling; Meaningful Change; Patient-Centered; Qualitative; Rare Disease.