X-linked Hypophosphatemia

X-linked Hypophosphatemia (XLH) presents as a rare genetic disease that shows low phosphate levels along with unique bone abnormalities that appear during childhood. Protheragen spearheads research programs by collaborating with leading scientists to expand the knowledge base of XLH.

Characteristics of X-linked Hypophosphatemia

The clinical signs of XLH exhibit extensive diversity across different patients. Patients display bone deformities such as bowed legs and short stature accompanied by chronic bone and joint pain which leads to stiffness and limited mobility. The main abnormalities in XLH target long bones but show a higher occurrence in the lower limbs compared to the upper limbs. Patients frequently exhibit dental problems that manifest as enamel defects and spontaneous dental abscesses. While some individuals experience hearing loss others develop endocrine system abnormalities. XLH diagnosis demands clinical assessment together with laboratory tests showing low serum phosphate levels and elevated FGF23 levels plus radiological features. Genetic testing of the PHEX gene not only confirms the diagnosis but also provides essential insights into the genetic foundation of the disorder.

Advancements in Diagnosis and Treatment

Diagnostics Progress

Genetic Testing: Modern genetic testing advancements allow exact analysis of PHEX gene mutations which improves diagnostic precision and now allows potential prenatal screening for early XLH detection.
Imaging Techniques: Combining X-rays with CT and MRI scans delivers extensive views of skeletal abnormalities which helps diagnose XLH earlier and track its progression.

Treatment Advances

Medication: Doctors manage hypophosphatemia with phosphate supplements together with active vitamin D analogs in treatment plans which enhance bone health and reduce symptoms.
Gene and Stem Cell Research: Innovative treatment development for XLH targets genetic origins and improves bone remodeling through advanced research in gene therapy and stem cell-based regenerative medicine approaches.

Marked endosteal sclerosis with marrow fibrosis.

Fig. 1 Pathogenesis of X-linked hypophosphatemia: mutations in the PHEX gene lead to elevated FGF23. (Wang Q, et al., 2025)

Our Services

Diagnostic Method Development Services for XLH

The company Protheragen helps researchers develop diagnostic procedures for XLH. We deliver full-spectrum genetic analysis services that target PHEX gene mutation detection and combine these with advanced imaging techniques including high-resolution CT and MRI to ensure precise diagnosis. Our genetic counseling service evaluates risks and designs individualized management plans for patients.

Therapy Development Services for XLH

Our therapy development services concentrate on XLH, supporting research into treatment options such as phosphate supplements and vitamin D analogs for managing symptoms. We are also actively exploring gene therapy approaches to correct aberrant FGF23 signaling pathways and investigating stem cell therapies for the regeneration of bone tissue impacted by XLH.

Model Development Services for XLH

Mouse Models: PHEX gene knockout models used to study skeletal development abnormalities and related pathologies.
Cell Models: Utilizing fibroblast and renal tubular cell models to explore disrupted phosphate metabolism and FGF23 signaling pathways in bone formation.

Protheragen is committed to driving innovation and research in XLH. Contact us today to discover how our comprehensive services can bolster your research initiatives, paving the way for groundbreaking advancements in the understanding and treatment of XLH.

Reference

Wang Q, et al. X-linked hypophosphataemia. Tidsskr Nor Laegeforen. 2025 Feb 26;145(3).

All of our services and products are intended for preclinical research use only and cannot be used to diagnose, treat or manage patients.

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