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

Active, not recruiting

• Conditions: X-Linked Hypophosphatemia
• Interventions: Other: no intervention

• Registration Number: NCT03745521
• Lead Sponsor: Kyowa Kirin Co., Ltd.

Brief Summary

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

Detailed Description

Not available

Study Timeline

• Study Start: 2018-05-01
• Study First Submitted: 2018-11-06
• Study First Submitted QC: 2018-11-16
• Study First Posted: 2018-11-19
• Status Verified: 2024-08
• Last Update Submitted: 2024-08-06
• Last Update Posted: 2024-08-07
• Primary Completion: 2028-12-31
• Study Completion: 2028-12-31

Recruitment & Eligibility

• Status: ACTIVE_NOT_RECRUITING
• Sex: All
• Target Recruitment: 226

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

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
X-linked Hypophosphatemia (XLH)	no intervention	Hypophosphatemic Rickets/osteomalacia

Primary Outcome Measures

Name	Time	Method
Height	After enrollment, patients will be observed annually or every 2 years for up to 10 years.	Height in centimeters
Timed Up and Go Test(TUGT)	After enrollment, patients will be observed every 2 years for up to 10 years.	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.
The 6-Minutes Walking Test	After enrollment, patients will be observed annually for up to 10 years.	The 6-Minutes Walking Test performed according to International Guidelines, will be measured as distance in meters.

Secondary Outcome Measures

Name	Time	Method
Fracture	10 years	Incidence of fracture of all parts
Radiography	After enrollment, patients will be observed annually or every 2 years for up to 10 years.	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).
Nephrocalcinosis	After enrollment, patients will be observed annually or every 2 years for up to 10 years.	The renal ultrasound will be performed and the presence and/or progression of nephrocalcinosis will be measured.

Trial Locations

Locations (1)

Osaka University Hospital; 🇯🇵 Osaka, Japan