TY - JOUR
T1 - The Feasibility of Personalized Endpoints in Assessing Treatment Outcomes for Rare Diseases
T2 - A Pilot Study of Goal Attainment Scaling in SCN2A-Associated Developmental Epileptic Encephalopathy
AU - Sevinc, Gunes
AU - Knox, Kari
AU - George, Michelle
AU - Evans, Lindsey
AU - Kaiser, Ariela
AU - Paltell, Katherine Charlotte
AU - Myers, Leah Schust
AU - Ludwig, Natasha N.
AU - Wojnaroski, Mary
AU - Conecker, Gabrielle
AU - Hecker, Jay Etta
AU - Downs, Jenny
AU - Chapman, Chere A.T.
AU - Berg, Anne T.
N1 - Publisher Copyright:
© 2025
PY - 2025/3
Y1 - 2025/3
N2 - Objectives: For individuals living with rare neurodevelopmental disorders, particularly 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 (Mage = 8.2 years, SD = 5.62, range 3.4-20.4; Nmale = 8) took part in in-person goal setting and remote follow-up interviews facilitated by 4 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 and were able to set scale 3 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, whereas 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.
AB - Objectives: For individuals living with rare neurodevelopmental disorders, particularly 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 (Mage = 8.2 years, SD = 5.62, range 3.4-20.4; Nmale = 8) took part in in-person goal setting and remote follow-up interviews facilitated by 4 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 and were able to set scale 3 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, whereas 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.
KW - clinical outcomes
KW - developmental and epileptic encephalopathy
KW - goal attainment scaling
KW - meaningful change
KW - patient-centered
KW - qualitative
KW - rare disease
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UR - http://www.scopus.com/inward/citedby.url?scp=85216236123&partnerID=8YFLogxK
U2 - 10.1016/j.jval.2024.12.004
DO - 10.1016/j.jval.2024.12.004
M3 - Article
C2 - 39733836
AN - SCOPUS:85216236123
SN - 1098-3015
VL - 28
SP - 441
EP - 448
JO - Value in Health
JF - Value in Health
IS - 3
ER -