Burden of Disease and Functional Impairment in XLH

Active, not recruiting

• Conditions: X Linked Hypophosphatemia

• Registration Number: NCT04946409
• Lead Sponsor: Wuerzburg University Hospital

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

Study Timeline

• Study Start: 2020-10-01
• Study First Submitted: 2021-06-22
• Study First Submitted QC: 2021-06-22
• Study First Posted: 2021-06-30
• Status Verified: 2023-12
• Last Update Submitted: 2023-12-05
• Last Update Posted: 2023-12-06
• Primary Completion: 2024-03
• Study Completion: 2024-10

Recruitment & Eligibility

• Status: ACTIVE_NOT_RECRUITING
• Sex: All
• Target Recruitment: 60

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

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
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 Outcome Measures

Name	Time	Method
Laboratory values	retrospective and up to 48 months from enrollment	Assess laboratory parameters over time in adults with XLH
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
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
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
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
Quality of life	retrospective and up to 48 months from enrollment	Assess quality of life and respective determining factors in adults patients with XLH

Trial Locations

Locations (1)

Orthopedic Center for Musculoskeletal Research, Orthopedic Department, University of Wuerzburg; 🇩🇪 Wuerzburg, Germany