ESPE2024 Poster Category 1 Bone, Growth Plate and Mineral Metabolism 2 (9 abstracts)
Health related quality of life (HRQoL) of adolescents with XLH treated with burosumab at the end of skeletal growth (EoSG.
Vrinda Saraff 1 , Pedro Arango Sancho 2 , Justine Bacchetta 3 , Agnès Linglart 4 , Christine Burren 5 , Amish Chinoy 6 , Poonam Dharmaraj 7 , Maria Amelia Gómez Llorente 8 , Juan David González Rodríguez 9 , Iva Gueorguieva 10 , Elin Haf Davies 11 , Wesley Hayes 12 , Sandra Komarzynski 11 , Héctor Ríos Duro 13 , Angela J Rylands 14 , Kerry Sandilands 14 , Emily Hardie 14 , Haruka Ishii 14 , Dirk Schnabel 15 , San Selveindran 16 & Annemieke M Boot 17
1Department of Paediatric Endocrinology and Diabetes, Birmingham Women’s and Children’s Hospital NHS Trust, Birmingham, United Kingdom. 2Department of Pediatric Nephrology, Hospital Sant Joan de Deu, Barcelona, United Kingdom. 3Centre Hospitalier Universitaire (CHU) de Lyon, Hôpital Femme-Mère-Enfant, Lyon, France. 4Assistance Publique Hôpitaux de Paris, Université Paris Saclay, Bicêtre Paris-Saclay Hospital, Le Kremlin Bicêtre, France. 5Bristol Royal Hospital for Children, Bristol, United Kingdom. 6Department of Paediatric Endocrinology, Royal Manchester Children’s Hospital, Manchester, United Kingdom. 7Department of Paediatric Endocrinology, Alder Hey Children's NHS Foundation Trust, Liverpool, United Kingdom. 8Department of Pediatric Nephrology, Virgen de las Nieves University Hospital, Granada, Spain. 9Department of Pediatric Nephrology, Santa Lucia General University Hospital, Cartagena, Spain. 10Centre Hospitalier Universitaire (CHU) de Lille, Lille, France. 11Aparito, Wrexham, United Kingdom. 12Department of Nephrology, Great Ormond Street Hospital, London, United Kingdom. 13Department of Pediatric Nephrology, Vall d´Hebron University Hospital, Barcelona, Spain. 14Kyowa Kirin International, Marlow, United Kingdom. 15Department of Pediatric Endocrinology and Diabetes, Charité Universitätsmedizin Berlin, Berlin, Germany. 16Open Health, Marlow, United Kingdom. 17University Medical Center Groningen, Department of Pediatric Endocrinology, Groningen, Netherlands
Introduction: X-linked hypophosphatemia (XLH) is a rare, progressive, genetic disorder causing phosphate wasting; hence symptoms in children include impaired growth, lower limb deformities, chronic pain and impaired physical function. Health-related quality of life (HRQoL) of patients with XLH on conventional therapy is lower than that of the general population. Burosumab has been shown to improve HRQoL in younger children and adults, but its effects in adolescents with XLH are unknown. MyXLH study aimed to describe the HRQoL at the end of skeletal growth (EoSG) of adolescents with XLH treated with burosumab.
Methods: Observational, prospective, multicentre, mixed-methods study collected data from patients for 4 weeks within a 26-week period prior to reaching EoSG. Quantitative data, including the child EuroQoL (EQ-5D-Y) index, visual analogue (VAS) on a scale of 0 (worst) to 100 (best), and item scores, as well as patient-reported time off from school/work, were all collected via an app. Qualitative data obtained during 1:1 telephone interviews expanded on the patients' lived experience.
Results: 24 adolescents with XLH (63% female) enrolled between November 2021 to January 2023 were treated with burosumab for a mean (SD) 4.5 (2.1) years prior to EoSG. Mean (SD) age at EoSG was 15.6 (1.2) years for females and 16.9 (1.2) years for males. Of the 20 (83%) adolescents who completed the EQ-5D-Y, the mean (SD) index score was 0.88 (0.2) and VAS score was 80.2 (16.0), both similar to adolescent population norms. Most reported no problems in ‘mobility’ (18[90%]), ‘looking after myself’ (18[90%]) and ‘doing usual activities’ (20[100%]). Six (30%) adolescents reported some level of pain/discomfort, and 7 (35%) patients reported ‘feeling a bit or very worried, sad or unhappy’. In interviews, 5 (21%) adolescents described sadness and worries including the impact of their disease on future careers and family as well as future treatment availability. Eight (33%) adolescents reported feeling self-conscious due to the physical manifestations of XLH. Nine (38%) adolescents described hopes for the future as maintaining non-burdensome disease management. Only 2 (8%) adolescents reported missing school/work at least once during the data collection period.
Conclusion: In this cohort of adolescents with XLH treated with burosumab prior to reaching EoSG, they reported their HRQoL to be good and indicated little time off school or work. Some adolescents experienced impact on their emotional well-being which qualitative findings suggest are related to uncertainties about future treatment as they approach EoSG.
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