The international X-linked hypophosphataemia (XLH) registry (NCT03193476) : rationale for and description of an international, observational study
Padidela, Raja (University of Manchester)
Nilsson, Ola (Örebro University)
Makitie, Outi (Helsinki University Hospital (Finlàndia))
Beck-Nielsen, Signe (Aarhus University Hospital (Aarhus, Dinamarca))
Ariceta Iraola, Gema (Hospital Universitari Vall d'Hebron)
Schnabel, Dirk (University Medicine Berlin)
Brandi, Maria Luisa (Università degli Studi di Firenze)
Boot, Annemieke (University of Groningen)
Levtchenko, Elena (UZ Leuven)
Smyth, Michael (Kyowa Kirin International)
Jandhyala, Ravi (Medialis Ltd (Regne Unit))
Mughal, Zulf (University of Manchester)

Fecha:	2020
Resumen:	X-linked hypophosphataemia (XLH) is a rare, hereditary, progressive and lifelong phosphate wasting disorder characterised by pathological elevations in fibroblast growth factor (FGF) 23 concentration and activity; XLH has an incidence of approximately 1 in 20-25,000 individuals. Excess FGF23 activity leads to increased phosphate excretion in the kidneys - mediated by downregulation of renal tubular phosphate transporters - and reduced phosphate absorption in the intestines - due to impaired vitamin D activation. This results in impaired bone growth and mineralisation, short and disproportionate stature, leg bowing, musculoskeletal pain, spontaneous dental abscesses, rickets, and osteomalacia. The spectrum of manifestations differs between paediatric and adult patients. Those involved in the treatment of this condition face many challenges, including a lack of robust natural history and demographic data. This multicentre, international, rare-disease patient registry (XLH Registry) was established to address the paucity of data in XLH and to help inform future clinical practice. The XLH Registry collects standard diagnostic and monitoring practice data, including (where applicable) diagnosis and disease progression history, treatment regimens and family history; the protocol does not mandate any interventions or clinical assessments. The XLH Registry aims to recruit 1200 paediatric and adult patients with XLH over 10 years, and several data analyses and peer-reviewed publications are expected to be generated throughout this period. A post-authorisation safety study for Bburosumab, for which the registry Sponsor is the marketing authorisation holder, will be nested as a sub-study within the XLH Registry via a subsequent protocol amendment. The data collected within this rare-disease patient registry will be utilised to synthesise real-world evidence to inform the management of XLH, to improve the quality of life and standard of care of patients living with this rare debilitating disease.
Derechos:	Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, fins i tot amb finalitats comercials, sempre i quan es reconegui l'autoria de l'obra original.
Lengua:	Anglès
Documento:	Article ; recerca ; Versió publicada
Materia:	X-linked hypophosphataemia (XLH) ; Rare disease ; Patient registry ; Vitamin D ; Disease history ; Post-authorisation safety ; Bburosumab ; Real-world evidence ; Quality of life ; XLH management
Publicado en:	Orphanet journal of rare diseases, Vol. 15 (june 2020) , ISSN 1750-1172

DOI: 10.1186/s13023-020-01434-4
PMID: 32605590

11 p, 793.9 KB

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