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| ID | Type | Description | Link |
|---|---|---|---|
| UMIN000031605 | Registry Identifier | UMIN-CTR |
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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:
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| X-linked Hypophosphatemia (XLH) | Hypophosphatemic Rickets/osteomalacia |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| no intervention | Other | no intervention |
|
| 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. |
| 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). |
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Inclusion Criteria:
Patients must meet at least one of the following:
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:
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Patients with XLH independent of treatment regimen
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| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Osaka University Hospital | Osaka | Japan |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 41911946 | Derived | Fukumoto S, Haffner D, Imel EA, Ozono K, Brandi ML, Ishii H, Li Z, Sandilands K, Joos-Vandewalle P, Lee C, Kanematsu M, McCullough KP, Carpenter TO. Real-world Impact of Treatment on Growth in Children With X-Linked Hypophosphatemia. J Clin Endocrinol Metab. 2026 Mar 31:dgag136. doi: 10.1210/clinem/dgag136. Online ahead of print. | |
| 40962182 |
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| ID | Term |
|---|---|
| D053098 | Familial Hypophosphatemic Rickets |
| ID | Term |
|---|---|
| D063730 | Rickets, Hypophosphatemic |
| D012279 | Rickets |
| D001851 | Bone Diseases, Metabolic |
| D001847 | Bone Diseases |
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| 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. |
| 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. |
| 40074938 | 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. |
| 32601114 | 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. |
| D009140 |
| Musculoskeletal Diseases |
| D007015 | Hypophosphatemia, Familial |
| D015499 | Renal Tubular Transport, Inborn Errors |
| D007674 | Kidney Diseases |
| D014570 | Urologic Diseases |
| D052776 | Female Urogenital Diseases |
| D005261 | Female Urogenital Diseases and Pregnancy Complications |
| D000091642 | Urogenital Diseases |
| D052801 | Male Urogenital Diseases |
| D008664 | Metal Metabolism, Inborn Errors |
| D008661 | Metabolism, Inborn Errors |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D008659 | Metabolic Diseases |
| D009750 | Nutritional and Metabolic Diseases |
| D002128 | Calcium Metabolism Disorders |
| D017674 | Hypophosphatemia |
| D010760 | Phosphorus Metabolism Disorders |
| D014808 | Vitamin D Deficiency |
| D001361 | Avitaminosis |
| D003677 | Deficiency Diseases |
| D044342 | Malnutrition |
| D009748 | Nutrition Disorders |