Table 1 Schedule of Events
Screening | Visit 1 | Visit 2 | Visit 3 | Visit 4 | Visit 5 | Visit 6 | Visit 7 | Visit 8 | Visit 9 | Visit 10 | |
|---|---|---|---|---|---|---|---|---|---|---|---|
0 weeks (+/− 14 days) | 12 weeks (+/− 14 days) | 24–28 weeks (+/− 14 days) | 40 weeks (+/− 14 days) | 52 weeks (+/− 14 days) | 64 weeks (+/− 14 days) | 76–80 weeks (+/− 14 days) | 92 weeks (+/− 14 days) | 104 weeks (+/− 14 days) | 116 weeks (+/− 14 days) | ||
Clinic based evaluations | |||||||||||
Informed consent | X | ||||||||||
Inclusion criteria | X | ||||||||||
Exclusion criteria | X | ||||||||||
Demography | X | ||||||||||
Medical history | X | X | |||||||||
Ability to comply with study evaluations | X | ||||||||||
Height | X | X | X | X | X | X | X | X | X | X | |
Weight | X | X | X | X | X | X | X | X | X | X | |
BP and other vital signs | X | X | X | X | X | X | X | X | X | X | |
Skin examination | X | X | X | X | X | X | X | X | X | ||
Pubertal examination | X | X | X | X | X | X | |||||
General physical examination | X | X | X | X | X | ||||||
Details of concomitant meds | X | X | X | X | X | X | X | X | X | ||
Details of Adverse Events | X | X | X | X | X | X | X | X | X | ||
Urine and blood tests | |||||||||||
Urine for bone turnover markers/steroid profile | X | X | X | X | X | ||||||
Blood for haematology/chemistry | X | X | X | X | X | ||||||
Blood for testosterone, LH, FSH levels | X | X | X | X | X | X | X | X | X | X | X |
Blood for other hormone levels | X | X | X | ||||||||
Blood for lipid profile | X | X | X | ||||||||
Blood for 25-OH-D | X | X | X | X | X | ||||||
Blood for Ca/bone turnover markers | X | X | X | ||||||||
Optional blood sample for Biobank | X | X | X | ||||||||
Functional assessments | |||||||||||
Respiratory function (FVC) | X | X | X | X | X | ||||||
NSAA and/ or PUL | X | X | X | X | X | ||||||
Timed and graded functional tests | X | X | X | X | X | ||||||
Muscle strength/ROM | X | X | X | X | X | ||||||
6 MWT | X | X | X | X | X | ||||||
Questionnaire assessments | |||||||||||
TSQM | X | X | X | X | X | ||||||
PEDSQoL – parent | X | X | X | X | X | ||||||
PEDSQoL – child | X | X | X | X | X | ||||||
Semi-structured interview | X | X | |||||||||
Investigations | |||||||||||
DXA | X | X | X | ||||||||
Muscle MRI | X | X | X | ||||||||
Echo | X | X | X | ||||||||
ECG | X | X | X | ||||||||
Wrist X-ray | X | X | |||||||||