MEASURING FUNCTIONAL ABILITIES AND ASSISTANCE LEVEL IN NIEMANN-PICK DISEASE TYPE C AND GM2 GANGLIOSIDOSES
Author(s)
Jorgji Kerthi, PharmD1, Marc Patterson, MD1, Bethany Zanrucha, PharmD1, Janelle Raymond, PhD1, Asante Hatcher, PhD1, Kayla Vecera, PharmD1, Megan Grosso, DPT1, Jake Caines, BBS2, Susan Rounds, PharmD2;
1IntraBio Inc., Austin, TX, USA, 2Curant Health LLC., Smyrna, GA, USA
1IntraBio Inc., Austin, TX, USA, 2Curant Health LLC., Smyrna, GA, USA
OBJECTIVES: A need exists for the generation of real-world patient reported outcome (PRO) data for Niemann-Pick disease type C (NPC) and GM2 gangliosidoses therapies. The Functional Independence Measure for Children (WeeFIM®[1]) is one of the most respected pediatric outcomes management tools in the market and may be applied to adults as well. Developed from the World Health Organization (WHO) bio-psycho-social model, the WeeFIM is a validated tool assessing functional independence in children. Utilizing a validated, well recognized assessment provides standardized real-world insight into the treatment journey for people living with NPC and GM2 gangliosidoses.
METHODS: The 18-item questionnaire is administered telephonically to the caregiver or participant with NPC or GM2 gangliosidoses assessing self-care, mobility, and cognition on a 7-level ordinal scale, categorized as "Complete Dependence" (1-2), “Modified Dependence” (3-5), or "Independence" (6-7). Total WeeFIM scores range from 18 to 126.
RESULTS: A total of 33 participants (aged 2-68 years) with baseline and follow-up assessments of which 27 were people with NPC and 6 people with GM2 gangliosidoses. Among the 33 participants, 45.4% (15/33) were male, 54.5% (18/33) female and 51.5% (17/33) were aged <18 years. Approximately 72.7% (24/33) showed either functional stability or improvement, with 42.4% (14/33) demonstrating total functional improvement. Analysis indicated improvement or stability across one or more functional domains in all individuals.
CONCLUSIONS: Forty-two percent (14/33) of the participants demonstrating real world symptom improvement both aggregately and across one or more domains is compelling, and a further 30.3% of participants (10/33) reported disease stabilization. Continued collection of PROs in people with NPC and GM2 gangliosidoses will assess treatment adherence and correlation to symptom progression to further evaluate treatment effectiveness. [1] WeeFIM and WeeFIM II are trademarks of Uniform Data System for Medical Rehabilitation, a division of UB Foundation Activities, Inc.
METHODS: The 18-item questionnaire is administered telephonically to the caregiver or participant with NPC or GM2 gangliosidoses assessing self-care, mobility, and cognition on a 7-level ordinal scale, categorized as "Complete Dependence" (1-2), “Modified Dependence” (3-5), or "Independence" (6-7). Total WeeFIM scores range from 18 to 126.
RESULTS: A total of 33 participants (aged 2-68 years) with baseline and follow-up assessments of which 27 were people with NPC and 6 people with GM2 gangliosidoses. Among the 33 participants, 45.4% (15/33) were male, 54.5% (18/33) female and 51.5% (17/33) were aged <18 years. Approximately 72.7% (24/33) showed either functional stability or improvement, with 42.4% (14/33) demonstrating total functional improvement. Analysis indicated improvement or stability across one or more functional domains in all individuals.
CONCLUSIONS: Forty-two percent (14/33) of the participants demonstrating real world symptom improvement both aggregately and across one or more domains is compelling, and a further 30.3% of participants (10/33) reported disease stabilization. Continued collection of PROs in people with NPC and GM2 gangliosidoses will assess treatment adherence and correlation to symptom progression to further evaluate treatment effectiveness. [1] WeeFIM and WeeFIM II are trademarks of Uniform Data System for Medical Rehabilitation, a division of UB Foundation Activities, Inc.
Conference/Value in Health Info
2026-05, ISPOR 2026, Philadelphia, PA, USA
Value in Health, Volume 29, Issue S6
Code
CO140
Topic
Clinical Outcomes
Topic Subcategory
Clinical Outcomes Assessment
Disease
SDC: Diabetes/Endocrine/Metabolic Disorders (including obesity), SDC: Neurological Disorders, SDC: Rare & Orphan Diseases