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

NCT03745521 | Active Not Recruiting

• 2 other identifiers: SUNFLOWERUMIN000031605
• Study Type: observational
• Target: 226
• Locations: 1 country
• Sites: 1

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

Conditions

X-Linked Hypophosphatemia

Keywords

XLH

Outcome Measures

Primary Outcomes (3)

• 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 Outcomes (3)

• Fracture

  10 years

• Radiography

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

• Nephrocalcinosis

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

Study Arms (1)

X-linked Hypophosphatemia (XLH)

Hypophosphatemic Rickets/osteomalacia

Other: no intervention

Interventions

no intervention OTHER

no intervention

X-linked Hypophosphatemia (XLH)

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Probability Sample

Study Population

Patients with XLH independent of treatment regimen

You may qualify if:

• 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

You may not qualify if:

• 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

Sponsors & Collaborators

• Kyowa Kirin Co., Ltd.: lead

Study Sites (1)

Osaka University Hospital

Osaka, Japan

Location

Related Publications (3)

• Carpenter TO, Fukumoto S, Haffner D, Imel EA, Ozono K, Ishii H, Li Z, Sandilands K, Joos-Vandewalle P, Lee C, Kanematsu M, McCullough KP, Brandi ML. Advancing Patient Evidence in XLH (APEX): Baseline analysis of a global data unification program. Bone. 2025 Dec;201:117649. doi: 10.1016/j.bone.2025.117649. Epub 2025 Sep 15.

  PMID: 40962182 DERIVED

• Ito N, Kang HG, Michigami T, Namba N, Kubota T, Shintani A, Kawai R, Kabata D, Ishii H, Nishida Y, Fukumoto S, Ozono K. Prevalence of Comorbid Hyperparathyroidism and Its Association with Renal Dysfunction in Asian Patients with X-Linked Hypophosphatemic Rickets/Osteomalacia. Calcif Tissue Int. 2025 Mar 12;116(1):50. doi: 10.1007/s00223-025-01359-9.

  PMID: 40074938 DERIVED

• Kubota T, Fukumoto S, Cheong HI, Michigami T, Namba N, Ito N, Tokunaga S, Gibbs Y, Ozono K. Long-term outcomes for Asian patients with X-linked hypophosphataemia: rationale and design of the SUNFLOWER longitudinal, observational cohort study. BMJ Open. 2020 Jun 29;10(6):e036367. doi: 10.1136/bmjopen-2019-036367.

  PMID: 32601114 DERIVED

MeSH Terms

Conditions

Familial Hypophosphatemic Rickets

Condition Hierarchy (Ancestors)

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

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: November 6, 2018
• First Posted: November 19, 2018
• Study Start: May 1, 2018
• Primary Completion (Estimated): December 31, 2028
• Study Completion (Estimated): December 31, 2028
• Last Updated: September 5, 2025

Record last verified: 2025-08

Locations

JP (1)