Burden of Disease and Functional Impairment in XLH

Study Overview
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Brief Summary
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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.

Detailed Description
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This is an observational / non-interventional study in order to assess the longitudinal course of XLH including disease related burden of disease and functional impairment. This is accomplished by both prospective follow up of affected patients as well as retrospective chart review. Evaluation conducted as per clincal routine and specifically evaluated as part of this study will include baseline documententation / demographic (as obtained from medical records) general data on XLH-disease specific medical history physical examination results functional assessments technical assessments quality of life / questionnaires laboratory evaluations

Official Title
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Identification of Longitudinal Burden of Disease and Functional Impairment in X-Linked Hypophosphatemia

Conditions
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X Linked Hypophosphatemia

Intervention / Treatment
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* Other: no intervention


Participation Criteria
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Eligibility Criteria
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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

Ages Eligible for Study
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Minimum Age: 18 Years

Sexes Eligible for Study
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All

Study Plan
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How is the study designed?
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Arms and Interventions

| Intervention/Treatment |
| --- |
|Other: no intervention|no intervention|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Course of disease | To document and assess the natural course of disease, associated symptoms and functional impairment in adult patients with XLH. | retrospective and up to 48 months from enrollment | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Comorbidities and medical treatment | Assess and document comorbidities and medical treatment regimens applied in adult patients with XLH | retrospective and up to 48 months from enrollment | 
| Functional deficits and mobility constraints | Assess and document functional deficits and mobility constraints in adult patients with XLH | retrospective and up to 48 months from enrollment | 
| Laboratory values | Assess laboratory parameters over time in adults with XLH | retrospective and up to 48 months from enrollment | 
| Organ / tissue specific health issues | Describe frequency and outcome of organ / tissue specific health issues (affecting e.g. skeleton, dental health, muscles and joints) in adults with XLH | retrospective and up to 48 months from enrollment | 
| Safety and tolerability of treatment | Evaluate safety and tolerability of various treatment regimens commonly applied in XLH patients | retrospective and up to 48 months from enrollment | 
| Quality of life | Assess quality of life and respective determining factors in adults patients with XLH | retrospective and up to 48 months from enrollment |