Table 1.
All data fields which are to be recorded (if collected) for each patient enrolled into the XLH patient registry. Data is grouped under headings, followed by a listing of all individual data variables collected
| Variable Group Heading | Variables | ||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Informed Consent | Date | Type | Assent | ||||||||||||
| Demographics | Date of Birth | Biological Gender | Ethnicity | ||||||||||||
| XLH-Specific Medication (All XLH-specific medications, including pain medication) | Dose | Compliance | Duration of Treatment | Reason for Discontinuation | |||||||||||
| Drug History | Dose | Compliance | Duration of Treatment | Reason for Discontinuation | |||||||||||
| Radiography and Imaging | Any radiological assessment of disease severity | Type of assessment | Scanner type | Analysis software used | |||||||||||
| Physical examination | Age | Disease-specific examination | |||||||||||||
| Vital Signs | Temperature | Blood Pressure (Sitting) | Pulse Rate | Respiratory Rate | |||||||||||
| Growth Assessments | Standing Height (metres) | Sitting Height (metres) | Arm Length (metres) | Leg Length (metres) | Weight (Kg) | Body Mass Index (BMI) | Z-scores (based on national reference) | ||||||||
| Biochemistry | 1,25(OH)2D | 25(OH)2D | Alanine aminotransferase (ALT) | Aspartate aminotransferase (AST) | Amylase | Bilirubin (direct and total) | Blood urea nitrogen (BUN) | Calcium (total) | Chloride | Carbon dioxide (CO2) | Cholesterol (total) | Creatinine | Gamma-glutamyl transpeptidase (GGT) | FGF23 | Uric acid |
| Biochemistry (continued) | Intact parathyroid hormone (iPTH | Lactate dehydrogenase | Phosphorus | Potassium | Protein (albumin and total) | Sodium | |||||||||
| Haematology | Haematocrit | Haemoglobin | Platelet count | Red blood cell (RBC) count | Mean corpuscular volume (MCV) | Mean Cell Haematocrit (MCH) | |||||||||
| Urine | pH | Specific gravity | Protein | Glucose | Calcium | Calcium/creatinine ratio | Phosphorus | Phosphorus/creatinine ratio | TmP/GFR | TRP | Pregnancy test (if applicable) | ||||
| Physiotherapy Reports | Number of Visits (since last visit) | Use of a Wheelchair | Use of Walking Aids | Use of Medical Devices | Home Adaptations | ||||||||||
| Echocardiogram Reports | |||||||||||||||
| Electrocardiogram Reports | |||||||||||||||
| Audiology Assessment | |||||||||||||||
| Renal Ultrasound Scan | |||||||||||||||
| Assessment Tools/Outcome Measure Reports | Six Minute Walk Test (6MWT) | Timed Up and Go Test (TUG) | Bruininks-Oseretsky Test of Motor Proficiency Section Edition (BOT-2) | Dynamometry | |||||||||||
| Patient Quality of Life Questionnaires or Assessment Reports (May include the following, but this is not an exclusive list) | Patient-Reported Outcomes Measurement Information System (PROMIS) [for children ≥5 years of age] | Short Form 10 (SF-10) [for children ≥5 years of age] | Pain: Faces Pain Scale-Revised (FPS-R) [for children ≥5 years of age] | Brief Pain Inventory - Short Form [for adult subjects] | Brief Fatigue Inventory - Short Form [for adult subjects] | Short Form 36 (SF-36) [for adult subjects) | Western Ontario and McMaster Universities Osteoarthritis Index (WOMAC) [for adult subjects] | Abbreviated XLH Resource Utilisation Survey | Five-level version of the EuroQoL five-dimensional descriptive system (EQ-5D 5 L) [for adult subjects] | EQ-5D 5 L Proxy [for children < 5 years of age] | Paediatric Musculoskeletal Functional Health Questionnaire (PODCI-POSNA) | General Function Score (GFS) | Health Assessment Questionnaire (HAQ) | Patient Index Data 3 (RAPID3) | Patient Pain Diary |
| Social History | Number of Work/School Dates Missed due to XLH-related Illness since last visit. | ||||||||||||||
| XLH-Specific Medical, Surgical and Dental History | Age of Onset of Symptoms | Age at Diagnosis | Diagnosis Method(s) | PHEX Mutation | Family History | Changes to XLH-specific history | |||||||||
| General Medical History | Pregnancy and Foetal Outcomes | Gestational/Foetal Exposure to Sponsor Product | Incidence of Hospitalisations | Duration of Hospitalisations | Cause of Hospitalisation | Date of Death | Cause of Death | ||||||||