X-linked hypophosphataemia (XLH) Genetic Diseases
Conditions
Interventions
UK centres with patients enrolled in the burosumab Early Access Program are sites in this observational study. Investigators collect data from patients' medical records, including patient-reported out
Sponsors
Kyowa Kirin International (United Kingdom)
Eligibility
Sex/Gender
All
Age
18 Years to 100 Years
Inclusion criteria
Inclusion criteria: All participants enrolled in the burosumab early access programme (EAP) will be considered for inclusion
Exclusion criteria
Exclusion criteria: Participants opting out will not have their clinical data collected
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| The proportion of adults receiving burosumab for XLH achieving serum phosphate level above the lower limit of normal (according to local reference ranges) in a real-world clinical setting after 6 months’ treatment, assessed locally and recorded in medical record | — |
Secondary
| Measure | Time frame |
|---|---|
| 1. Population and clinical characteristics at baseline, including patient-reported outcomes (PROs), recorded in and abstracted from medical records 2. The proportion of adults receiving burosumab for XLH who achieved a serum phosphate level above the lower limit of normal (according to local reference ranges) in a real-world clinical setting at any time, assessed (including vs local reference ranges), recorded in and abstracted from medical records 3. Patient-reported outcomes (where available) change from baseline (start of treatment with burosumab) to 6 months of treatment and 6-monthly thereafter: 3.1. Pain intensity measured by BPI Short Form Q3 (Worst Pain) score 3.2. WOMAC stiffness, pain, difficulty performing daily activities, total scores in most bothersome joint 3.3. EuroQOL-5-dimension 5 level (EQ-5D-5L) 4. Baseline distribution and changes in the following biochemical measures versus baseline over time: 4.1. Serum phosphate, creatinine, alkaline phosphatase (ALP), parathyroid hormone (PTH), calcium, 1,25 dihydroxyvitamin D: routine blood tests carried out during patients’ usual clinical care, abstracted from medical records as/when available 4.2. Urine calcium and ratio of tubular maximum reabsorption of phosphate to glomerular filtration rate (TmP/GFR): routine urinalysis carried out during patients’ usual clinical care, abstracted from medical records as/when available 5. The number and percentage of participants taking opioid, or any pain medication will be summarised at baseline and at 6-monthly intervals. Changes to opioid dose over time will be described. Data from medications/dosing information abstracted from participants’ medical records. 6. Impact on ability to work/study will be summarised at baseline and at 6-monthly intervals. Data abstracted from participants’ medical records by direct care team, as and when routine care visits happened. 7. Burosumab dosing at baseline, changes over time and total burosumab treatment duration, abstracted f | — |
Countries
England, United Kingdom
Contacts
Public ContactJudith Bubbear
Outcome results
None listed