Gait analysis reveals new outcome measures for monitoring disease progression in individuals with late-onset Pompe disease
The Pompe Mobility-Derived Progression Index (Pompe-MDPI) was developed and validated as a sensitive biomarker of disease progression. Longitudinal analysis demonstrated that Pompe-MDPI captured gait deterioration over one year, outperforming traditional measures like the six-minute walk test in sensitivity. These findings support the use of wearable gait analysis as a clinically meaningful, scalable tool for monitoring motor function in LOPD, with implications for both patient care and therapeutic trials.
Authors
- Mireia Claramunt-Molet (ORCID: https://orcid.org/0000-0002-8546-0166)
- Manuela Corti (ORCID: https://orcid.org/0000-0002-6391-4139)
- B. Byrne
- Sebastian Idelsohn-Zielonka (ORCID: https://orcid.org/0000-0002-3721-2774)
- Virgilia Antón
- M. James
- Jordi Pegueroles (ORCID: https://orcid.org/0000-0002-3554-2446)
- Ariadna Pi-Cervera
- C. Domínguez-González
- Jordi Díaz-Manera
- Stephanie M. Salabarria
- Mari Rico
- Karen Wong
Institutions
- Family Health International 360 (US)
- Hospital de Sant Pau (ES)
- University of Florida (US)
- Research Institute Hospital 12 de Octubre (ES)
- Centre Tecnologic de Telecomunicacions de Catalunya (ES)
- Technological Center of Nutrition and Health (ES)
- Hospital Universitario 12 De Octubre (ES)
- Centre for Biomedical Network Research on Rare Diseases (ES)
- Centro de Investigación Biomédica en Red (ES)
- Muscular Dystrophy UK (GB)
- Fundación Instituto para la Mejora de la Asistencia Sanitaria (ES)
- Barcelona Institute for Global Health (ES)
- University of Castilla-La Mancha (ES)
Publication Details
- Journal
- Journal of NeuroEngineering and Rehabilitation
- Published
- 2026-03-09
- DOI
- https://doi.org/10.1186/s12984-026-01898-8
- Primary Topic
- Lysosomal Storage Disorders Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00