Frederick S Kaplan1, Mona Al Mukaddam2, Robert J Pignolo3. 1. Department of Orthopaedic Surgery, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, United States; Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, United States; The Center for Research in FOP and Related Disorders, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, United States. Electronic address: frederick.kaplan@uphs.upenn.edu. 2. Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, United States; The Center for Research in FOP and Related Disorders, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, United States. Electronic address: Mona.AlMukaddam@uphs.upenn.edu. 3. Department of Medicine, Mayo Clinic School of Medicine, Mayo Clinic, Rochester, MN, United States. Electronic address: pignolo.robert@mayo.edu.
Abstract
BACKGROUND: Fibrodysplasia ossificans progressiva (FOP) is a catastrophic genetic disorder of progressive heterotopic ossification (HO). Assessment of functional mobility in FOP will be essential to support clinical trials of investigational agents. RESULTS: Of necessity, we developed a simple, rapidly-administered, cumulative analogue joint involvement scale (CAJIS) for FOP based on assessments in 144 individuals worldwide with classic FOP. CONCLUSIONS: CAJIS scores correlated with patient age, activities of daily living, and ambulatory function with excellent inter-rater variability. We show here that the CAJIS score provides an accurate and reproducible snapshot of total body and regional mobility burden in FOP.
BACKGROUND:Fibrodysplasia ossificans progressiva (FOP) is a catastrophic genetic disorder of progressive heterotopic ossification (HO). Assessment of functional mobility in FOP will be essential to support clinical trials of investigational agents. RESULTS: Of necessity, we developed a simple, rapidly-administered, cumulative analogue joint involvement scale (CAJIS) for FOP based on assessments in 144 individuals worldwide with classic FOP. CONCLUSIONS: CAJIS scores correlated with patient age, activities of daily living, and ambulatory function with excellent inter-rater variability. We show here that the CAJIS score provides an accurate and reproducible snapshot of total body and regional mobility burden in FOP.
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