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

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