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Advancing Patient Evidence in XLH (APEX): Baseline analysis of a global data unification program.

Thomas O Carpenter¹, Seiji Fukumoto², Dieter Haffner³

¹Department of Pediatrics, Section of Endocrinology, Yale University School of Medicine, PO Box 208064, New Haven, CT, 06520-8064, USA.

|September 17, 2025

Summary

X-linked hypophosphatemia (XLH) is a rare genetic disorder. The APEX program

Keywords:

Fibroblast growth factor 23 (FGF23)Odontomalacia Osteomalacia Phosphate-regulating endopeptidase homolog Real-world evidence Rickets X-linked (PHEX) gene X-linked hypophosphatemia (XLH)

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Area of Science:

Genetics and rare diseases
Endocrinology and metabolic disorders
Pediatric and adult medicine

Background:

X-linked hypophosphatemia (XLH) is a rare, lifelong genetic disorder caused by PHEX gene variants.
It leads to excess fibroblast growth factor 23 (FGF23) and renal phosphate wasting.
The Advancing Patient Evidence in XLH (APEX) project unifies global data from three observational studies.

Purpose of the Study:

To describe the global burden and lifelong progression of XLH.
To collect real-world data on treatment effectiveness and safety.
To investigate regional differences in XLH treatment outcomes.

Main Methods:

Baseline analysis of patient characteristics and disease burden.
Inclusion of data from the XLH Disease Monitoring Program (DMP), International XLH Registry (IXLHR), and SUNFLOWER studies.
Analysis of a global cohort of 1556 XLH patients across different age groups.

Main Results:

The cohort comprised 1556 participants, with 66% females and 71% confirmed PHEX variants.
Increasing prevalence of dental complications, fractures, and osteoarthritis with age was observed.
Participants exhibited reduced height, normal weight, elevated BMI, and below-reference Z-scores for phosphate and tubular reabsorption of phosphate.

Conclusions:

This baseline analysis offers significant insights into the global characteristics and natural history of XLH patients within the APEX program.
Provides a foundation for understanding XLH burden and progression.
Highlights the need for continued real-world data collection for XLH management.