A cumulative analogue joint involvement scale (CAJIS) for fibrodysplasia ossificans progressiva (FOP)

Frederick S Kaplan; Mona Al Mukaddam; Robert J Pignolo

doi:10.1016/j.bone.2017.04.015

A cumulative analogue joint involvement scale (CAJIS) for fibrodysplasia ossificans progressiva (FOP)

Bone. 2017 Aug:101:123-128. doi: 10.1016/j.bone.2017.04.015. Epub 2017 Apr 29.

Authors

Frederick S Kaplan¹, Mona Al Mukaddam², Robert J Pignolo³

Affiliations

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.

PMID: 28465250
DOI: 10.1016/j.bone.2017.04.015

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.

Keywords: ACVR1; Activities of daily living; Ambulation; Bone morphogenetic protein signaling; Fibrodysplasia ossificans progressiva; Heterotopic ossification.

MeSH terms

Activities of Daily Living
Adolescent
Adult
Age Factors
Child
Child, Preschool
Female
Humans
Infant
Infant, Newborn
Male
Middle Aged
Myositis Ossificans / genetics
Myositis Ossificans / physiopathology*
Ossification, Heterotopic / genetics
Ossification, Heterotopic / physiopathology
Young Adult