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Development of an Infantile GM2 Clinical Rating Scale: Remote Assessment of Clinically Meaningful Health-Related
Michael Kiefer1,2, Meg Simione3,4, Florian S Eichler5,6
1Department of Physical Therapy, College of Health Professions, Virginia Commonwealth University, Richmond, VA, USA.
Insights
A new rating scale was developed to remotely assess health-related function in children with infantile GM2 gangliosidosis (GM2). This tool aims to improve clinical trials and natural history studies for this rare neurological disorder.
Area of Science:
- Neuroscience
- Genetics
- Pediatrics
Background:
- GM2 gangliosidoses (GM2) are rare lysosomal storage disorders causing progressive central nervous system damage.
- Infantile GM2 involves developmental delays and rapid loss of motor, cognitive, and visual functions.
- Effective clinical outcome assessments are lacking for GM2, hindering natural history studies and clinical trials.
Purpose of the Study:
- To develop a remotely administered rating scale for measuring health-related function in children with infantile GM2.
- To address the need for feasible and clinically meaningful outcome assessments in GM2 research.
Main Methods:
- A 2-phase mixed-methods design was utilized.
- Phase 1 involved 8 families providing caregiver perspectives through surveys and interviews.
- Phase 2 included 8 expert clinicians refining the scale via surveys and focus groups.
Main Results:
- Developed a 16-item scale assessing function in 5 domains: vision, hand/arm use, communication, gross motor, and feeding.
- The scale incorporates caregiver insights and expert clinical feedback.
- The Infantile GM2 Clinical Rating Scale is designed for remote administration.
Conclusions:
- A novel, remotely administered clinical outcome assessment for infantile GM2 has been developed.
- This scale integrates caregiver and expert clinician input for clinical relevance.
- Future research will validate the scale's feasibility, reliability, and validity.
Abstract:
GM2 gangliosidoses (GM2) are a group of rare lysosomal storage disorders in which accumulation of GM2 gangliosides results in progressive central nervous system damage. The infantile GM2 phenotype is characterized by delays in milestones by 6 months of age, followed by rapid loss of motor, cognitive, and visual function. Advancements in early diagnosis and pharmacotherapies provide promise for improved outcomes. However, the lack of feasible and clinically meaningful clinical outcome assessments for GM2 poses a challenge to characterizing GM2 natural history and selecting clinical trial endpoints. The purpose of this study was to develop a remotely administered infantile GM2 rating scale to measure health-related function in children with infantile GM2. A 2-phase mixed methods design was employed. In phase 1 of the study, 8 families of children with Infantile GM2 completed a natural history survey and a 1:1 semistructured interview to provide caregiver perspectives on the impacts of GM2 on health-related function. In phase 2 of the study, 8 expert clinicians provided feedback via surveys and participated in videoconference-hosted focus groups to refine scale administration and scoring procedures. These methods guided the development of 16 scale items to assess function in 5 health-related function domains: vision, hand and arm use, communication, gross motor, and feeding. This study used caregiver perspectives and expert clinician feedback to develop a remotely administered clinical outcome assessment of clinically meaningful health-related function in children with infantile GM2. Future studies will further evaluate the feasibility, reliability, and validity of the Infantile GM2 Clinical Rating Scale.
