The Fibrodysplasia Ossificans Progressiva Physical Function Questionnaire (FOP-PFQ): A patient-reported, disease-specific measure

Robert J Pignolo; Miriam Kimel; John Whalen; Ariane K Kawata; Alexander Artyomenko; Frederick S Kaplan

doi:10.1016/j.bone.2022.116642

The Fibrodysplasia Ossificans Progressiva Physical Function Questionnaire (FOP-PFQ): A patient-reported, disease-specific measure

Bone. 2023 Mar:168:116642. doi: 10.1016/j.bone.2022.116642. Epub 2022 Dec 13.

Authors

Robert J Pignolo¹, Miriam Kimel², John Whalen³, Ariane K Kawata⁴, Alexander Artyomenko⁵, Frederick S Kaplan⁶

Affiliations

¹ Department of Medicine, Mayo Clinic, Rochester, MN, USA. Electronic address: Pignolo.Robert@mayo.edu.
² Evidera, Bethesda, MD, USA. Electronic address: Miriam.Kimel@evidera.com.
³ Ipsen, Slough, UK. Electronic address: John.Whalen@iese.net.
⁴ Evidera, Bethesda, MD, USA. Electronic address: Ariane.Kawata@evidera.com.
⁵ Ipsen, Newton, MA, USA. Electronic address: Alex.Artyomenko@ipsen.com.
⁶ Departments of Orthopaedic Surgery and Medicine, The Center for Research in FOP and Related Disorders, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA. Electronic address: Frederick.Kaplan@pennmedicine.upenn.edu.

PMID: 36526263
DOI: 10.1016/j.bone.2022.116642

Abstract

Objectives: To assess the reliability and validity of age-specific versions of the Fibrodysplasia Ossificans Progressiva Physical Function Questionnaire (FOP-PFQ), developed to measure the impact of FOP on physical function and activities of daily living.

Methods: FOP-PFQ development included a literature review, two iterative phases of qualitative work involving individuals with FOP, and clinical expert review. The analysis used pooled FOP-PFQ data from an FOP natural history study (NCT02322255), a patient registry (NCT02745158), and phase II trials (NCT02190747; NCT02279095; NCT02979769). Item-level and factor analysis informed item retention and determined factor structure. Reliability was evaluated using Cronbach's alpha and intraclass correlation coefficients. Convergent validity was assessed by comparing scores with age, the Cumulative Analogue Joint Involvement Scale (CAJIS), the Patient-Reported Outcomes Measurement Information System Global Health Scale (PROMIS), and heterotopic ossification (HO) volume. Known-groups validity assessment used age, CAJIS, and HO volume.

Results: Factor analysis confirmed a two-factor solution: Mobility and Upper Extremity. Results reflected high internal consistency and were supportive of test-retest reliability; correlation coefficients >0.90 demonstrated FOP-PFQ scores were stable over a one- to three-week period. The majority of scores were moderately (r = 0.30-0.50) to highly (r ≥ 0.50) correlated with CAJIS and HO volume, supporting convergent validity. With the exception of some age-based and functional groups, FOP-PFQ scores were significantly worse in groups with more severe disease, demonstrating known-groups validity.

Conclusion: The FOP-PFQ was demonstrated to be a reliable, valid measure that may be responsive to change in individuals with FOP, although some results were inconclusive for pediatric versions.

Keywords: Fibrodysplasia ossificans progressiva; Heterotopic ossification; Patient-reported outcome measure; Physical function; Psychometric assessment; Validation.

Publication types

Review
Research Support, Non-U.S. Gov't

MeSH terms

Activities of Daily Living
Child
Humans
Myositis Ossificans* / diagnosis
Ossification, Heterotopic*
Patient Reported Outcome Measures
Reproducibility of Results
Surveys and Questionnaires

Associated data

ClinicalTrials.gov/NCT02322255
ClinicalTrials.gov/NCT02745158
ClinicalTrials.gov/NCT02190747
ClinicalTrials.gov/NCT02279095