ESPE2021 ePoster Category 2 Growth and syndromes (to include Turner syndrome) (56 abstracts)
Associations between height and health-related quality of life (HRQoL) and functional independence in children with achondroplasia
Melita Irving 1 , Ravi Savarirayan 2 , Paul Arundel 3 , Lynda E. Polgreen 4 , Klaus Mohnike 5 , Keiichi Ozono 6 , Michael Saunders 7 , Elena Fisheleva 7 , Alice Huntsman-Labed 7 & Jonathan Day 7
1Guy’s and St. Thomas’ NHS Foundation Trust, Evelina Children’s Hospital, London, United Kingdom; 2Murdoch Children’s Research Institute, Royal Children’s Hospital, and University of Melbourne, Parkville, Australia; 3Sheffield Children’s NHS Foundation Trust, Sheffield, United Kingdom; 4Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center, Torrance, USA; 5Otto-von-Guericke-Universität, Magdeburg, Germany; 6Osaka University Hospital, Osaka, Japan; 7BioMarin (U.K.) Limited, London, United Kingdom
Background and Objectives: Achondroplasia (ACH) is characterized by severe short stature with a height deficit of approximately 6 SDS below that of average stature. Our objective was to evaluate the impact of height deficit on health-related quality of life (HRQoL) and functional independence in children with ACH.
Methods: Height Z-score, HRQoL, and functional independence data were obtained from children with ACH who enrolled in the vosoritide Phase 3 trial (study 111-301; EudraCT number, 2015-003836-11). Subjects completed at least six months of a baseline observational growth study (study 111-901; ClinicalTrials.gov number, NCT01603095) prior to enrolling in the Phase 3 trial and the subsequent open label extension study (study 111-302; ClinicalTrials.gov number, NCT03424018). Height Z-scores were assessed every 3 months. The Pediatric Quality of Life Inventory (PedsQL), the Quality of Life in Short Stature Youth (QoLISSY), and the Functional Independence Measures in Children (WeeFIM) questionnaires were completed every 6 months. All visit matched pairs of height Z score and HR-QOL data pooled from studies 901, 301 and 302 were analyzed using a mixed effect model to assess the relationship of a 1 SDS decrease in height deficit on domain scores of the PedsQL, QoLISSY, and WeeFIM, without reference to treatment assignment or timepoint.
Results: 121 children (64 boys, 57 girls; mean age 8.71 ± 2.47 years, age range 5.1 – 14.9 years), were included in this exploratory analysis. For all instruments, mean scores were generally lower in subjects with greater height deficit (≤ -6 SDS) compared to taller subjects with height Z score greater than − 4 SDS. Clear linear relationships between height Z-scores and several domain scores were observed, most notably in the PedsQL Physical domain (caregiver and self-reported, with slope estimates (mean, [95% CI]) of 4.36 [1.87, 6.85] and 2.10 [-0.25, 4.45], respectively), the height-specific QoLISSY Physical domain (caregiver and self-reported, slope estimates of 4.83 [2.34, 7.31] and 3.83 [1.10, 6.56], respectively), and the WeeFIM Self-care and Mobility domains (slope estimates of 0.71 [0.27, 1.15] and 1.36 [0.32, 2.40], respectively).
Conclusions: Height deficit in ACH impacts HRQoL and function. These data suggest that therapies that have the potential to reduce height deficit in ACH may also improve HRQoL and functional independence.
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