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Endocrine Abstracts (2019) 66 P8 | DOI: 10.1530/endoabs.66.P8

Bone

Clinical, functional and quality of life outcomes of Burosumab therapy in children with X-linked hypophosphoataemia: a real world, London experience

Jessica Sandy, Robyn Gilbey-Cross, Rui Santos, Sophia Sakka, Alessandra Cocca, Mavali Morris, Jill Massey & Moira Cheung


Evelina London Children’s Hospital, London, UK


Burosumab, monoclonal antibody targeting fibroblast growth factor 23, is now available for clinical use in children with X-linked hypophosphatemia (XLH). We explored the effects of this treatment in a clinical setting, considering biochemistry, growth, deformity, functionality, quality of life, pain and fatigue.

Methods: Clinical, biochemical, radiological and questionnaire data were reviewed at 6 and 12 months(m) for 8 children with XLH starting burosumab as well as 6-minute walk test (6MWT) and Timed Up and GO (TUG). Questionnaires included: Core Paediatric Quality of Life Inventory (PedsQL-Core), PedsQL multidimensional fatigue scale (PedsQL-Fatigue), and Brief Pain Index Pain Severity Score (PSS).

Results: Median age was 5.5 years(y) (range=19m–11y). Table below shows clinical and functional improvements over 12m.

Deformity: Six children had lower limb deformity; varus(N=3), valgus(N=2), windswept(N=1). All but one noticed improvement at 12m with reduced intercondylar/intermalleolar distances.

Pain/fatigue: One child reported no pain. 12m PSS scores decreased for 6 patients and increased for 1. 3 recorded higher PSS at 6m, improving by 12m. PSS Mean±S.D. was 2.3±1.3 at baseline and 1.0±1.2 at 12m (maximum score 10). Mean±S.D. PEDsQL-Fatigue scores were 64±19 at baseline and 76±17 at 12m (maximum score 100, P=0.2).

Quality of Life: Mean±S.D. PEDsQL-Core score improved from 69±17 at baseline to 81±15 at 9m, however decreased to 67±17 by 12m (N=7,maximum score 100). This is despite verbal reports of improvements and may reflect a shift in expectation.

TestBaseline Mean±S.D.12m Mean±S.D.P value
Phosphate (1.0–1.9 mmol/l)0.7±0.11.1±0.1P<0.001
ALP* (139–347 IU/l) 415±73322±70P<0.001
PTH** (10–65 ng/l)31±1442±16P<0.05
Ur Ca:Creatinine (0.05–0.60)0.44±0.210.37±0.23Not significant, P=0.51
TmP/GFR1 *** (1.15–2.44)0.56±0.111.19±0.18P<0.001
Height Z-scores−2.600±0.813−2.435±0.787P<0.05
Thatcher Scores (out of 10)2.0±1.50.4±0.3P<0.05
TUG (N=5,seconds)5.7±0.54.8±0.6P<0.05
6MWT (N=4, metres)258±75447±53****P=0.05
*Alkaline Phosphatase, **Parathyroid hormone, ***Ratio of renal tubular maximum phosphate reabsorption.

Conclusion: In a real-world setting, burosumab can improve biochemistry, growth, deformity, pain and function in children with XLH.

Volume 66

47th Meeting of the British Society for Paediatric Endocrinology and Diabetes

Cardiff, UK
27 Nov 2019 - 29 Nov 2019

British Society for Paediatric Endocrinology and Diabetes 

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