Bone · 2025
Advancing Patient Evidence in XLH (APEX): Baseline analysis of a global data unification program.
СтатьяНаблюдательное исследованиеНазвание и аннотация: Перевод в очереди
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Carpenter Thomas O, Fukumoto Seiji, Haffner Dieter, Imel Erik A, Ozono Keiichi, Ishii Haruka, Li Zhiyi, Sandilands Kerry, Joos-Vandewalle Paul, Lee Cheuk, Kanematsu Masanori, McCullough Keith P, Brandi Maria Luisa
Аннотация
PURPOSE: X-linked hypophosphatemia (XLH) is a rare, genetic, progressive, lifelong disorder caused by pathogenic variants in the PHEX gene, leading to excess fibroblast growth factor 23 (FGF23) and renal phosphate wasting. Advancing Patient Evidence in XLH (APEX) is a 10-year global data unification project that combines 3 regional observational studies (XLH Disease Monitoring Program [DMP], International XLH Registry [IXLHR], and SUNFLOWER). APEX aims to describe the burden and lifelong progression of XLH, to collect real-world data on treatment effectiveness and safety, and to investigate regional differences in treatment outcomes.
METHODS: This was a baseline analysis of the characteristics and disease burden of a global group of patients with XLH.
RESULTS: This analysis included 1556 participants (XLH DMP n = 598; IXLHR n = 736; SUNFLOWER n = 222), with 590 participants aged 0-12 years, 193 aged 13-17 years, and 773 aged ≥18 years. Overall, 66 % of participants were female. Family history of XLH and of a PHEX variant were reported for 55 % and 47 % of participants, respectively; 71 % of participants had a confirmed PHEX variant. Participants had reduced height, normal weight, and elevated body mass index compared with a reference population. Clinical histories demonstrated increasing prevalence of dental complications, fractures, and osteoarthritis with age. Median Z-scores for phosphate, tubular maximum reabsorption of phosphate to glomerular filtration rate, and urine calcium/creatinine ratio were below the scores for the reference population.
CONCLUSION: This baseline analysis provides substantial information on the global characteristics and natural history of patients with XLH in the APEX program.
REGISTRATION: ClinicalTrials.govNCT03651505 (registered August 24, 2018), NCT03193476 (registered June 13, 2017), NCT03745521 (registered November 6, 2018).
METHODS: This was a baseline analysis of the characteristics and disease burden of a global group of patients with XLH.
RESULTS: This analysis included 1556 participants (XLH DMP n = 598; IXLHR n = 736; SUNFLOWER n = 222), with 590 participants aged 0-12 years, 193 aged 13-17 years, and 773 aged ≥18 years. Overall, 66 % of participants were female. Family history of XLH and of a PHEX variant were reported for 55 % and 47 % of participants, respectively; 71 % of participants had a confirmed PHEX variant. Participants had reduced height, normal weight, and elevated body mass index compared with a reference population. Clinical histories demonstrated increasing prevalence of dental complications, fractures, and osteoarthritis with age. Median Z-scores for phosphate, tubular maximum reabsorption of phosphate to glomerular filtration rate, and urine calcium/creatinine ratio were below the scores for the reference population.
CONCLUSION: This baseline analysis provides substantial information on the global characteristics and natural history of patients with XLH in the APEX program.
REGISTRATION: ClinicalTrials.govNCT03651505 (registered August 24, 2018), NCT03193476 (registered June 13, 2017), NCT03745521 (registered November 6, 2018).