ESPE Abstracts (2021) 94 P2-284

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.

Volume 94

59th Annual ESPE (ESPE 2021 Online)

Online,
22 Sep 2021 - 26 Sep 2021

European Society for Paediatric Endocrinology 

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