Poster Presentation ANZBMS-MEPSA-ANZORS 2022

Joint function and quality of life in Fibrodysplasia Ossificans Progressiva: Results from an international burden of illness survey of patients and family members (#224)

Shane Patella 1 , Mona A Mukaddam 2 , Katherine S Toder 2 , Michelle Davis 3 , Kim Croskery 4 , Anne-Sophie Grandoulier 5 , Elaine A Boing 6 , Frederick S Kaplan 2
  1. Ipsen, Melbourne, Australia
  2. 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
  3. International FOP Association, Kansas City, MO, USA
  4. Ipsen, Slough, UK
  5. Ipsen, Paris, France
  6. Ipsen, Cambridge, MA, US

INTRODUCTION: Fibrodysplasia ossificans progressiva (FOP) is an ultra-rare genetic disorder of progressive heterotopic ossification, resulting in cumulative loss of joint function and severe disability. We present results from an international, cross-sectional FOP Burden of Illness Survey (NCT04665323) demonstrating the impact of loss of joint function on quality of life (QoL) for patients and their family members.

METHODS: Individuals with FOP (survey proxy-completed for patients aged <13 years), their primary caregivers, and other family members (aged ≥18 years) were eligible to participate. The survey was available online from 18Jan21–30Apr21 in 15 countries and 11 languages. The Patient­Reported Mobility Assessment (PRMA) evaluated range of motion across 12 joints and 3 body regions (higher scores reflect more severe limitations). To assess the impact of FOP on QoL, patients ≥13 years and their family members completed the EuroQoL health-related QoL questionnaire (EQ-5D-5L; index ranges from <0 [worst health] to 1 [full health]).

RESULTS: 463 survey responses were received from 405 individuals. Mean (standard deviation [SD]) EQ-5D-5L index score was 0.24 (0.36) for patients ≥13 years, 0.83 (0.22) for primary caregivers, and 0.85 (0.21) across all family members. There was a significant negative association between PRMA total score and EQ­5D-5L index score for patients, such that for every 1-unit increase in the PRMA total score of the patient, there was a mean (standard error [SE]) decrease of 0.029 (0.003; p<0.0001) in EQ-5D-5L. For all family members, there was no significant association between EQ-5D-5L and the PRMA total score of the patient (p=0.6737).

DISCUSSION/CONCLUSION: Loss of joint function (as represented by PRMA Level) has a significant, detrimental impact on QoL for patients with FOP. These findings increase understanding of the impact of FOP on patients and their family members, and may help to improve quality of care and access to support for the FOP community.