TY - JOUR
T1 - Longitudinal patient-reported mobility assessment in fibrodysplasia ossificans progressiva (FOP)
AU - Kaplan, Frederick S.
AU - Al Mukaddam, Mona
AU - Pignolo, Robert J.
N1 - Publisher Copyright:
© 2017 Elsevier Inc.
PY - 2018/4
Y1 - 2018/4
N2 - Background: Fibrodysplasia ossificans progressiva (FOP) is a rare, disabling genetic disorder characterized by episodic soft tissue swelling (flare-ups) that leads to progressive heterotopic ossification and restricted joint mobility. Methods: Here we present the first longitudinal patient-reported mobility assessment (PRMA) in FOP based on a simple evaluation tool. At initial presentation and follow-up (1–11 year span; median: 6 year span), 64 patients (36 females; 28 males) with classic FOP completed a questionnaire designed to rapidly assess mobility at 15 sites (three axial; six upper limb, and six lower limb). In order to validate this instrument, twenty-one of 64 patients (33%) underwent a cumulative analogue joint involvement scale (CAJIS) evaluation by two physicians within six months of their second self-assessment. Results: We found that: 1) mobility changes were episodic and regional, occurring first in the neck and trunk, followed by the upper limbs and finally the lower limbs; 2) interval improvements in mobility did occur, most notably in the lower limbs (18%), and less so in the upper limbs (12%) and trunk (3%), and 3) patient-reported mobility assessments correlate highly (R2 = 0.81) with physician-reported CAJIS evaluations. Conclusion: This is the first longitudinal PRMA in FOP and provides a simple and valid tool that can be used in the design and evaluation of clinical trials in this progressively disabling disease.
AB - Background: Fibrodysplasia ossificans progressiva (FOP) is a rare, disabling genetic disorder characterized by episodic soft tissue swelling (flare-ups) that leads to progressive heterotopic ossification and restricted joint mobility. Methods: Here we present the first longitudinal patient-reported mobility assessment (PRMA) in FOP based on a simple evaluation tool. At initial presentation and follow-up (1–11 year span; median: 6 year span), 64 patients (36 females; 28 males) with classic FOP completed a questionnaire designed to rapidly assess mobility at 15 sites (three axial; six upper limb, and six lower limb). In order to validate this instrument, twenty-one of 64 patients (33%) underwent a cumulative analogue joint involvement scale (CAJIS) evaluation by two physicians within six months of their second self-assessment. Results: We found that: 1) mobility changes were episodic and regional, occurring first in the neck and trunk, followed by the upper limbs and finally the lower limbs; 2) interval improvements in mobility did occur, most notably in the lower limbs (18%), and less so in the upper limbs (12%) and trunk (3%), and 3) patient-reported mobility assessments correlate highly (R2 = 0.81) with physician-reported CAJIS evaluations. Conclusion: This is the first longitudinal PRMA in FOP and provides a simple and valid tool that can be used in the design and evaluation of clinical trials in this progressively disabling disease.
KW - ACVR1
KW - Fibrodysplasia ossificans progressiva
KW - Heterotopic ossification
KW - Joint function
KW - Patient-reported outcomes
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U2 - 10.1016/j.bone.2017.06.005
DO - 10.1016/j.bone.2017.06.005
M3 - Article
C2 - 28600150
AN - SCOPUS:85020253033
SN - 8756-3282
VL - 109
SP - 158
EP - 161
JO - Bone
JF - Bone
ER -