Active — Not RecruitingNot Applicable

Burden of Disease and Functional Impairment in XLH

Germany60 participantsStarted 2020-10-01

Plain-language 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.

Who can participate

Age range18 Years

SexALL

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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

What they're measuring

Course of disease

Timeframe: retrospective and up to 48 months from enrollment

Trial details

NCT IDNCT04946409

SponsorWuerzburg University Hospital

Sponsor typeOTHER

Study typeOBSERVATIONAL

Primary completion2024-11-30

View on ClinicalTrials.gov More X Linked Hypophosphatemia trials