X Linked Hypophosphatemia
Conditions
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
Interventions
OTHERno intervention
no intervention
Sponsors
Kyowa Kirin, Inc.
Wuerzburg University Hospital
Study design
Observational model
COHORT
Time perspective
OTHER
Eligibility
Sex/Gender
ALL
Age
18 Years to No maximum
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
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| 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. |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Organ / tissue specific health issues | retrospective and up to 48 months from enrollment | Describe frequency and outcome of organ / tissue specific health issues (affecting e.g. skeleton, dental health, muscles and joints) in adults with XLH |
| Safety and tolerability of treatment | retrospective and up to 48 months from enrollment | Evaluate safety and tolerability of various treatment regimens commonly applied in XLH patients |
| Comorbidities and medical treatment | retrospective and up to 48 months from enrollment | Assess and document comorbidities and medical treatment regimens applied in adult patients with XLH |
| Laboratory values | retrospective and up to 48 months from enrollment | Assess laboratory parameters over time in adults with XLH |
| Quality of life | retrospective and up to 48 months from enrollment | Assess quality of life and respective determining factors in adults patients with XLH |
| Functional deficits and mobility constraints | retrospective and up to 48 months from enrollment | Assess and document functional deficits and mobility constraints in adult patients with XLH |
Other
| Measure | Time frame | Description |
|---|---|---|
| Impact of treatment on physical performance | retrospective and up to 48 months from enrollment | Evaluate the impact of clinical routine treatment including both medical approaches and physical therapy on physical performance and mobility of adult patients with XLH |
| Medical history | retrospective and up to 48 months from enrollment | Document and assess medical history of adult patients with XLH in order to understand its predictive value on burden of disease in adulthood |
Countries
Germany
Outcome results
None listed