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Measurement of Motor Function in Children With Canavan Disease: Concordance Between Remote and In-Person Assessments
Elise L Townsend1, Michael Kiefer2, Beth Leiro3
1BridgeBio Gene Therapy LLC, d/b/a Aspa Therapeutics, Palo Alto, California; PhD in Rehabilitation Sciences Program, School of Health and Rehabilitation Sciences, MGH Institute of Health Professions, Boston, Massachusetts.
Remote motor assessments are valid for children with Canavan disease. Combining the Hammersmith Infant Neurological Exam (HINE-2) and Gross Motor Function Measure (GMFM-88) provides comprehensive evaluation in pediatric rare diseases.
Area of Science:
- Pediatric rare diseases research
- Clinical trial methodology
- Neuromotor assessment validation
Background:
- Decentralized and hybrid trials require validation of remote assessments for pediatric rare diseases.
- Canavan disease presents challenges for in-person motor assessments.
Purpose of the Study:
- To evaluate the concordance of remote versus in-person standardized motor assessments in children with Canavan disease.
- To assess the validity of remote motor assessments over a 2-year period.
Main Methods:
- Paired remote/in-person motor assessments using HINE-2 and GMFM-88 were conducted in 13 children.
- Data analyzed using Lin's Concordance correlation coefficients (CCCs) and Bland-Altman plots.
- Assessments performed by 5 trained physical therapist raters over 85 visit pairs.
Main Results:
- High correlation (CCC=0.98) between remote and in-person HINE-2 total scores, indicating minimal bias and high precision.
- High correlation (CCC=0.98) between remote and in-person GMFM-88 total raw scores, with low bias and modest variability.
- Small mean differences observed: 0.01 for HINE-2 and 0.54 for GMFM-88.
Conclusions:
- Remote motor assessments (HINE-2 and GMFM-88) are valid and useful for children with Canavan disease.
- Combining HINE-2 (motor milestones) and GMFM-88 (motor function) offers a comprehensive evaluation approach.
- Supports the use of remote assessments in pediatric rare disease trials for medically high-risk children.
