Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2026 Feb 3.
doi: 10.1186/s13023-026-04244-2. Online ahead of print.

Adolescents' experience of living with X-linked hypophosphataemia (XLH): a mixed-methods analysis of those who continued and discontinued burosumab treatment after end of skeletal growth

Vrinda Saraff  1 , Pedro Arango-Sancho  2 , Justine Bacchetta  3 , Annemieke M Boot  4 , Christine P Burren  5 , Amish Chinoy  6 , Poonam Dharmaraj  7 , Maria Amelia Gómez Llorente  8 , Juan David González Rodríguez  9 , Iva Gueorguieva  10 , Wesley Hayes  11 , Dirk Schnabel  12 , Héctor Ríos Duro  13 , Elin Haf Davies  14 , Sandra Komarzynski  14 , Angela J Rylands  15 , Kerry Sandilands  15 , Haruka Ishii  16 , Angela Williams  15 , Santhani Selveindran  17 , Adele Barlassina  17 , Annabel Bowden  18 , Agnès Linglart  19
Affiliations
Free article

Adolescents' experience of living with X-linked hypophosphataemia (XLH): a mixed-methods analysis of those who continued and discontinued burosumab treatment after end of skeletal growth

Vrinda Saraff et al. Orphanet J Rare Dis. .
Free article
No abstract available

Keywords: Fibroblast growth factor 23 (FGF23); Health-related quality of life (HRQL); Paediatrics; Patient-reported outcomes; Phosphate wasting; Puberty; Qualitative research; Rare disease; X-linked hypophosphataemia.

PubMed Disclaimer

Conflict of interest statement

Declarations. Ethics approval and consent to participate: The study complied with all applicable laws, regulations and guidance relating to adolescent protection, including privacy, and consistent with the ethical principles of the Declaration of Helsinki and the requirements of the European Union General Data Protection Regulation. Ethics approval was obtained from relevant authorities in each country. Adolescents provided either written informed consent or assent alongside carer consent to take part in different aspects of the study, depending on age and local requirements. Consent for publication: No individual identifying data are included. Participant consent forms confirmed consent for the use of anonymized quotes. Competing interest: VS has received speaker fees, meeting attendance support and research fees from Kyowa Kirin, and support for meeting attendance from Alexion and Sandoz. JB has received speaker fees and research fees from Kyowa Kirin. AMB has received a research grant and consulting and speaker fees from Kyowa Kirin, all paid to her institution. CPB has received speaker fees and meeting attendance support from Kyowa Kirin. AC has received speaker fees from Kyowa Kirin. JDGR has received speaker fees from Kyowa Kirin and contributed to the company’s clinical reports. IG has received consulting fees and meeting attendance support from Kyowa Kirin and has taken part in an advisory board for the company; EHD holds stocks/stock options with Aparito Ltd and Eli Lilly& Co. WH has received a Research for Patient Benefit Grant from the National Institute for Health and Care Research. DS has received consulting fees and meeting attendance support from Kyowa Kirin and is president of the German Society for Pediatric and Adolescent Endocrinology and Diabetology. SK holds stock/stock options with Eli Lilly & Co. AJR, KS and AW are employed by Kyowa Kirin. HI is employed by Kyowa Kirin and holds stock in the company. AB is employed by Spire Outcomes Ltd, which received fees from Kyowa Kirin for evidence synthesis and medical writing. AL has received consulting fees and honoraria from Novo Nordisk, Merck, Biomarin and Pfizer; speaker and research fees from Kyowa Kirin (paid to her institution); and meeting attendance support from Sandoz. She has participated in advisory/data safety monitoring boards for Alexion and Novo Nordisk. PAS, PD, MAGL, HRD and SS have no disclosures.

References

    1. Beck-Nielsen SS, Mughal Z, Haffner D, et al. FGF23 and its role in X-linked hypophosphatemia-related morbidity. Orphanet J Rare Dis. 2019;14(1):58.
    1. Linglart A, Biosse-Duplan M, Briot K, et al. Therapeutic management of hypophosphatemic rickets from infancy to adulthood. Endocr Connect. 2014;3(1):R13–30.
    1. Collins M. Burosumab: at long last, an effective treatment for FGF23-associated hypophosphatemia. J Bone Min Res. 2018;33(8):1381–82.
    1. Skrinar A, Dvorak-Ewell M, Evins A, et al. The lifelong impact of X-linked hypophosphatemia: results from a burden of disease survey. J Endocr Soc. 2019;3(7):1321–34.
    1. Chen YY, Kao TW, Chou CW, et al. Exploring the link between serum phosphate levels and low muscle strength, dynapenia, and sarcopenia. Sci Rep. 2018;8(1):3573.

LinkOut - more resources