Study of Longitudinal Observation for Patient With X-linked Hypophosphatemic Rickets/Osteomalacia in Collaboration With Asian Partners

Study Overview
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Brief Summary
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Through observation of patients with X-linked hypophosphatemic rickets/osteomalacia (XLH) for up to 10 years, the study intends to collect data that allow achievement of the following objectives: To determine medical characteristics of the disease and the disease process To determine physical and psychological burden on patients as well as economic burden To assess the efficacy and safety of the treatment of the disease

Official Title
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An International, Multicenter, Prospective, Longitudinal Observational Study for Patient With X-linked Hypophosphatemic Rickets/Osteomalacia

Conditions
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X-Linked Hypophosphatemia

Intervention / Treatment
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* Other: no intervention


Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: Patients must meet at least one of the following: Documented PHEX gene mutation Documented PHEX gene mutation in at least one family member with X-linked genetic relationship Documented FGF23 >30 pg/mL Typical clinical findings of rickets/osteomalacia Written informed consent obtained from patients aged >=18 years or from parents or legally acceptable representatives of patients aged <18 years Exclusion Criteria: Participation in any clinical study (trial) at the time of informed consent Any patient whose participation in the study is considered inappropriate by the investigator or the subinvestigator
Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| X-linked Hypophosphatemia (XLH)<br>Hypophosphatemic Rickets/osteomalacia | Other: no intervention<br>* no intervention<br>|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Height | Height in centimeters | After enrollment, patients will be observed annually or every 2 years for up to 10 years. | 
| The 6-Minutes Walking Test | The 6-Minutes Walking Test performed according to International Guidelines, will be measured as distance in meters. | After enrollment, patients will be observed annually for up to 10 years. | 
| Timed Up and Go Test(TUGT) | The time required for each patient to do the TUGT will be recorded: Stand up from sitting in a chair, walk 3 meters, turn around, walk back, and sit down. | After enrollment, patients will be observed every 2 years for up to 10 years. | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Fracture | Incidence of fracture of all parts | 10 years | 
| Radiography | Radiography of the sites listed below will be performed. AP views of both knees, PA vies of both wrists, and both long legs. Sites with symptoms such as pain, sites of suspected fracture, and spine (cervical, thoracic and lumber). | After enrollment, patients will be observed annually or every 2 years for up to 10 years. | 
| Nephrocalcinosis | The renal ultrasound will be performed and the presence and/or progression of nephrocalcinosis will be measured. | After enrollment, patients will be observed annually or every 2 years for up to 10 years. | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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XLH