X-linked Hypophosphatemia
Conditions
Brief summary
X-linked hypophosphatemia (XLH) is the most common form of heritable rickets. Current treatments include active vitamin D metabolites (e.g. calcitriol) and phosphate salts. There is no consistent weight-based dosing of calcitriol and phosphate now. The primary objective of this study is to establish the efficacy of different dose of calcitriol combined with neutral phosphate in children with XLH.
Interventions
DRUGCalcitriol
Sponsors
Peking Union Medical College Hospital
Study design
Allocation
RANDOMIZED
Intervention model
PARALLEL
Primary purpose
TREATMENT
Masking
NONE
Eligibility
Sex/Gender
ALL
Age
1 Years to 12 Years
Healthy volunteers
No
Inclusion criteria
* Male or female, aged 1-12 years, inclusive * Diagnosis of XLH by clinical features: serum phosphorus level \< 2.5 mg/dl; ALP?; RSS total score ≥2; bowed legs; short stature; family history with appropriate X-linked inheritance * Meet at least one of the following: confirmed Phosphate regulating gene with homology to endopeptidases located on the X chromosome (PHEX) mutation in the participant, or serum FGF23 level \>30 pg/ml (Kainos assay) * Willing to participate the study, and provide an informed consent * Able to complete all aspects of study and adhere to the visit schedule
Exclusion criteria
* Use of growth hormone within 12 months before first visit * Height \>50 percentile for age and sex specific data * Presence of nephrocalcinosis or nephrolithiasis * Serum intact parathyroid hormone level\>170 pg/ml * Plan to receive orthopaedic surgery in 12 months * Poor compliance * Use of gonadotropin-releasing hormone therapy right now * Use of aluminium hydroxide, steroid, acetazolamide or thiazide drugs within 7 days before first visit * Not be fit to participant in the study, by the judgement of investigators
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Change From Baseline to Post-treatment in Severity of Rickets as Measured by Rickets Severity Score (RSS) Total Score | Baseline, Month 12, 24 | RSS range from 0 to 10, and higher RSS represent severer rickets. It is consisted of score of worst wrist (0-4) and worst knee (0-6). WRIST-score both radius and ulna separately-2 bones × 2 points = 4 points possible KNEE-score both femur and tibia separately Multiply the grade in A by the multiplier in B for each bone, then add femur and tibia scores together A: Grade 1 2 3 B: Multiplier Portion of growth plate affected 0.5 ≤ 1 condyle or plateau 1. 2 condyles or plateaus 2. bones × 1 point × 3 points = 6 points possible Total: 10 points possible Reference:Thacher, T. Radiographic scoring method for the assessment of the severity of nutritional rickets\[J\]. Journal of Tropical Pediatrics, 2000, 46(3):132-139. |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Changes From Baseline to Post-treatment in Growth Velocity | Baseline, Month 12, 24 | Changes From Baseline to Post-treatment in Severity of Rickets as Measured by RSS Wrist and Knee Score |
| Changes From Baseline to Post-treatment in Serum Total Alkaline Phosphatase (TALP) Levels | Baseline, Month 3, 6, 12, 18, 24 | Changes From Baseline to Post-treatment in serum ALP |
| Changes From Baseline to Post-treatment in serum Carboxy-terminal Collagen Crosslinks (CTX) Levels | Baseline, Month 3, 6, 12, 18, 24 | Changes From Baseline to Post-treatment in serum CTX |
| Changes From Baseline to Post-treatment in Serum Phosphorus Levels | Baseline, Month 3, 6, 12, 18, 24 | Changes From Baseline to Post-treatment in Serum Phosphorus Levels |
| Changes From Baseline to Post-treatment in Severity of Dental Abscess | Baseline, Month 3, 6, 12, 18, 24 | The frequency and number of dental abscess will be collected by self-report and examed by investigators |
| Changes From Baseline to Post-treatment in Severity of Rickets as Measured by RSS Wrist and Knee Score | Baseline, Month 12, 24 | RSS range from 0 to 10, and higher RSS represent severer rickets. It is consisted of score of worst wrist (0-4) and worst knee (0-6). WRIST-score both radius and ulna separately-2 bones × 2 points = 4 points possible KNEE-score both femur and tibia separately Multiply the grade in A by the multiplier in B for each bone, then add femur and tibia scores together A: Grade 1 2 3 B: Multiplier Portion of growth plate affected 0.5 ≤ 1 condyle or plateau 1. 2 condyles or plateaus 2. bones × 1 point × 3 points = 6 points possible Total: 10 points possible Reference:Thacher, T. Radiographic scoring method for the assessment of the severity of nutritional rickets\[J\]. Journal of Tropical Pediatrics, 2000, 46(3):132-139. |
| Changes From Baseline to Post-treatment in Severity of Leg Deformities | Baseline, Month 3, 6, 12, 18, 24 | The longest distance between two sides of thighs, knees, shanks and ankles are measured to evaluate the severity of leg deformities. |
| Changes From Baseline to Post-treatment in Serum Osteocalcin Levels | Baseline, Month 3, 6, 12, 18, 24 | Changes From Baseline to Post-treatment in Serum Osteocalcin Levels |
| Changes From Baseline to Post-treatment in Height | Baseline, Month 3, 6, 12, 18, 24 | Changes From Baseline to Post-treatment in Height |
| Changes From Baseline to Post-treatment in Quality of Life as Measured by Patient-reported Outcomes Measurement Information System | Baseline, Month 3, 6, 12, 18, 24 | Changes From Baseline to Post-treatment in Quality of Life as Measured by Patient-reported Outcomes Measurement Information System |
| Changes From Baseline to Post-treatment in Severity of Bone Pain as Measured by Visual Analog Pain Scales | Baseline, Month 3, 6, 12, 18, 24 | Visual Analog Pain Scales (VAS) range from 0-10, and higher score represents severer pain |
Countries
China
Contacts
Primary ContactWeibo Xia, MD
Outcome results
None listed