Observational study comprising prospective follow up as well as retrospective chart review in order to evaluate the longitudinal course of the disease in XLH patients with a specific focus on functional impairment, physical performance and complications associated with the disease or respective treatment.
Eligibility
Sex
ALL
Min age
18 Years
Max age
—
Healthy volunteers
No
Inclusion Criteria:
* Male or female, aged ≥ 18 years, inclusive, at the time of enrollment
* Diagnosis of X-linked Hypophosphatemia confirmed by
* documented PHEX mutation in either the patient, or in a directly related family member
* positive family history of XLH and symptoms of the disease or
* Phosphaturia + elevated serum levels of c-term FGF23 or iFGF23 and symptoms of the disease
* Written informed consent
Exclusion Criteria:
\- Suspected of confirmed diagnosis of another phosphate wasting disorder
Primary outcome measure(s)
Course of disease — retrospective and up to 48 months from enrollment To document and assess the natural course of disease, associated symptoms and functional impairment in adult patients with XLH.
Trial sites (1)
Facility
City
Region
Status
Orthopedic Center for Musculoskeletal Research, Orthopedic Department, University of Wuerzburg
Würzburg
Germany
More Wuerzburg University Hospital trials in Germany
This page summarises publicly available registry data for informational purposes — not medical advice. Eligibility is determined by each study team; patients should discuss participation with their clinician.
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