Identification of Longitudinal Burden of Disease and Functional Impairment in X-Linked Hypophosphatemia
Overview
- Phase
- N/A
- Intervention
- Not specified
- Conditions
- X Linked Hypophosphatemia
- Sponsor
- Wuerzburg University Hospital
- Enrollment
- 60
- Locations
- 1
- Primary Endpoint
- Course of disease
- Status
- Active, Not Recruiting
- Last Updated
- 9 months ago
Overview
Brief Summary
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
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
Investigators
Eligibility Criteria
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
Outcomes
Primary Outcomes
Course of disease
Time Frame: 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.
Secondary Outcomes
- Laboratory values(retrospective and up to 48 months from enrollment)
- Organ / tissue specific health issues(retrospective and up to 48 months from enrollment)
- Comorbidities and medical treatment(retrospective and up to 48 months from enrollment)
- Functional deficits and mobility constraints(retrospective and up to 48 months from enrollment)
- Safety and tolerability of treatment(retrospective and up to 48 months from enrollment)
- Quality of life(retrospective and up to 48 months from enrollment)