Natural history of fibrodysplasia ossificans progressiva: cross-sectional analysis of annotated baseline phenotypes

Table 1 Timing of standard assessments over the 3-year study

Assessment/Procedure	Screening/Baseline	First 3 weeks	Every 3 months	Every 6 months	Every 12 months
Clinic visit	X				X
Telephone contact		X	X	X
Informed consent/assent	X
Assess for eligibility	X
Medical and FOP history	X
Prior/concomitant medications	X	X	X	X	X
Post-baseline medical events				X	X
Physical examination	X				X
Linear height (≥ 18 years old)	X				X
Knee and sitting height (< 18 years old)	X				X
Body weight	X				X
Vital signs	X				X
Electrocardiogram	X				X
Pulmonary function tests	X				X
Pulse oximetry	X				X
Clinical laboratory assessments^a	X				X
Blood and urine for biomarkers samples^b	X				X
CAJIS	X				X
Knee and hand/wrist x-rays (< 18 years old)					X
WBCT (excluding head)	X				X
FOP assistive devices assessment	X			X	X
FOP-PFQ assessment	X			X	X
PROMIS Global Scales	X			X	X
Columbia-Suicide Severity Rating Scale	X				X
Genotyping	X
Adverse events		X	X	X	X

^aIncludes triglycerides, alanine aminotransferase, aspartate aminotransferase, amylase, total cholesterol, lipase, total bilirubin, alkaline phosphatase, hemoglobin, hematocrit, platelets, and white blood cell count
^bBone and cartilage biomarkers include osteocalcin, bone specific alkaline phosphatase, P1CP-C-terminal propeptide of type 1 procollagen, P1NP N-terminal propeptide of type 1 procollagen, cartilage-derived retinoic acid-sensitive protein, and c-terminal telopeptide. The angiogenesis biomarker was urinary basic fibroblast growth factor. The inflammation biomarkers included erythrocyte sedimentation rate, c-reactive protein, interleukin-6, interleukin-1 beta, tumor necrosis factor-alpha, creatinine phosphokinase, and lactate dehydrogenase
Abbreviations: CAJIS = Cumulative Analogue Joint Involvement Scale, FOP = Fibrodysplasia Ossificans Progressiva, FOP-PFQ = Fibrodysplasia Ossificans Progressiva-Patient Function Questionnaire, PROMIS = Patient-Reported Outcome Measure Information System, WBCT = whole body computed tomography

ISSN: 1750-1172