Clinical trial NCT04946409: Burden of Disease and Functional Impairment in XLH
Official title: Identification of Longitudinal Burden of Disease and Functional Impairment in X-Linked Hypophosphatemia
Study type: OBSERVATIONAL
Overall status: ACTIVE_NOT_RECRUITING
Conditions: X Linked Hypophosphatemia
Lead sponsor: Wuerzburg University Hospital
Sponsor class: OTHER
Collaborators: name: Kyowa Kirin, Inc.
First posted: 2021-06-30
Enrollment: 60
Sex: ALL
Minimum age (years): 18
Standard ages: ADULT
OLDER_ADULT
Observational model: COHORT
Time perspective: OTHER
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Adult patients with X-linked Hypophosphatemia

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

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

Primary outcomes:
measure: Course of disease
timeFrame: retrospective and up to 48 months from enrollment
Secondary outcomes:
measure: Comorbidities and medical treatment
timeFrame: retrospective and up to 48 months from enrollment
measure: Functional deficits and mobility constraints
timeFrame: retrospective and up to 48 months from enrollment
measure: Laboratory values
timeFrame: retrospective and up to 48 months from enrollment
measure: Organ / tissue specific health issues
timeFrame: retrospective and up to 48 months from enrollment
measure: Safety and tolerability of treatment
timeFrame: retrospective and up to 48 months from enrollment
measure: Quality of life
timeFrame: retrospective and up to 48 months from enrollment
Other outcomes:
measure: Impact of treatment on physical performance
timeFrame: retrospective and up to 48 months from enrollment
measure: Medical history
timeFrame: retrospective and up to 48 months from enrollment
Locations:
city: Wuerzburg
country: Germany
facility: Orthopedic Center for Musculoskeletal Research, Orthopedic Department, University of Wuerzburg
Study officials:
References: