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

N/AActive Not RecruitingNCT03745521

Kyowa Kirin Co., Ltd.226 enrolled

Overview

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: 1. To determine medical characteristics of the disease and the disease process 2. To determine physical and psychological burden on patients as well as economic burden 3. To assess the efficacy and safety of the treatment of the disease

Study Type

OBSERVATIONAL

Enrollment

226

Conditions

X-Linked Hypophosphatemia

Interventions

no interventionOTHER

no intervention

Eligibility

Sex: ALL

Medical Language ↔ Plain English

Inclusion Criteria: * Patients must meet at least one of the following: 1. Documented PHEX gene mutation 2. Documented PHEX gene mutation in at least one family member with X-linked genetic relationship 3. 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

Locations (1)

Osaka University Hospital

Osaka, Japan

Outcomes

Primary Outcomes

Height

Height in centimeters

Time frame: 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.

Time frame: 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.

Time frame: After enrollment, patients will be observed every 2 years for up to 10 years.

Secondary Outcomes

Fracture

Incidence of fracture of all parts

Time frame: 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).

Time frame: 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.

Time frame: After enrollment, patients will be observed annually or every 2 years for up to 10 years.

Data from ClinicalTrials.gov

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