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NCT Number: NCT03745521

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

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

Active, Not Recruiting

This study is active but is not currently recruiting participants.

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Key information

Conditions

X-linked Hypophosphatemia Avitaminosis Bone Diseases Bone Diseases, Metabolic Calcium Metabolism Disorders Congenital, Hereditary, and Neonatal Diseases and Abnormalities Deficiency Diseases Familial Hypophosphatemic Rickets Female Urogenital Diseases Female Urogenital Diseases and Pregnancy Complications Genetic Diseases, Inborn Hypophosphatemia Hypophosphatemia, Familial Kidney Diseases Male Urogenital Diseases Malnutrition Metabolic Diseases Metabolism, Inborn Errors Metal Metabolism, Inborn Errors Musculoskeletal Diseases Nutrition Disorders Nutritional and Metabolic Diseases Phosphorus Metabolism Disorders Renal Tubular Transport, Inborn Errors Rickets Rickets, Hypophosphatemic Urogenital Diseases Urologic Diseases Vitamin D Deficiency

Sex eligibility

All sexes

Study type

Observational

Primary location

Osaka University Hospital

Osaka, Japan

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

No intervention

Other

no intervention

Primary outcomes

  1. Height

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

    Height in centimeters

  2. The 6-Minutes Walking Test

    Time frame: 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.

  3. Timed Up and Go Test(TUGT)

    Time frame: 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.

Secondary outcomes

  1. Fracture

    Time frame: 10 years

    Incidence of fracture of all parts

  2. Radiography

    Time frame: 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).

  3. Nephrocalcinosis

    Time frame: 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.

Sponsors and collaborators

Lead sponsor

Kyowa Kirin Co., Ltd.

Industry

Registry information

Official study title

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

Acronym: SUNFLOWER

Important dates

Study start
2018
Primary completion
2028
Study completion
2028
First posted
Nov 19, 2018
Registry last updated
Sep 5, 2025

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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