Table 1 Patients characteristics at baseline (BL)
From: Fingolimod in children with Rett syndrome: the FINGORETT study
All | Individual patients | ||||||
|---|---|---|---|---|---|---|---|
Number of patients | 6 | 001 | 002 | 003 | 004 | 005 | 006 |
Number of females (%) | 6 (100) | ||||||
Age (mean and SD) in years | 11.3 (3.1) | 12 | 13 | 12 | 10 | 6 | 15 |
Disease duration (mean and SD) in years | 10.4 (2.5) | 10 | 12 | 10 | 9 | 5 | 12 |
Height (mean and SD) in cm | 143.8 (12.8) | 152 | 123.5 | 144.4 | 147 | 122 | 155 |
Weight (mean and SD) in kg | 50.5 (24.8) | 43.6 | 28.5 | 93.40 | 48 | 27 | 56 |
BMI (mean and SD) | 23.9 (10.5) | 19.0 | 15.7 | 44.7 | 22.2 | 18.1 | 23.3 |
Fingolimod dose (mg) | 0.5 | 0.25 | 0.5 | 0.5 | 0.25 | 0.5 | |
Fingolimod administration | Normal (sometimes capsule broken with teeth) | PEG (opened capsule and given with liquid) | Normal | Normal | Opened capsule and given with liquid or meal | Opened capsule and given with liquid or meal | |
Mutation MeCP2 confirmed (%) | 6 (100) | + | + | + | + | + | + |
Rett Stage (Hagberg) | III | III | III | IV | III | II | |
Seizures (%) | 4 (66.7) | + | + | − | + | + | − |
AED | 5 (83.3) | + | + | + (mood stabili − ser) | + | + | − |
Hyper-hypo-ventilation (%) | 4 (66.7) | + | + | + | − | + | − |
Main symptoms at BL: | |||||||
hand skills loss (%) | 6 (100.0) | + | + | + | + | + | + |
spoken language loss (%) | 6 (100.0) | + | + | + | + | + | + |
gait abnormalities (%) | 6 (100.0) | + | + | + | + | + | + |
stereotypical moves (%) | 5 (83.3) | + | + | – | + | + | + |
Vineland Adaptive Behaviour Scale | 41 | 44 | 89 | 47 | 45 | 160 | |
Rett Symptom Severity Scale | 18 | 25 | 6 | 18 | 28 | 4 | |
Hand Apraxia Scale | 7 | 10 | 9 | 10 | 10 | 3 | |
MRI-Inspection | Normal | Mode-rate generalized atrophy | Micro-cephaly | Normal | Decent generalized atrophy | Normal | |
BDNF serum in ng/ml | |||||||
16.79 | 26.59 | 23.95 | 20.77 | 38.16 | 25.90 | ||
Mean and SD | 25.4 (7.2) | ||||||
Median [IQR] | 24.9 [21.6, 26.4] | ||||||
BDNF csf in pg/ml | |||||||
0.265 | 0.318 | 7.309 | 0.266 | 2.581 | 1.783 | ||
Mean and SD | 2.1 (2.7) | ||||||
Median [IQR] | 1.1 [0.3, 2.4] | ||||||
NfL serum in pg/ml | |||||||
10.5 | 17.3 | 6.3 | 8.6 | 5.0 | 12.1 | ||
Mean and SD | 10.0 (4.4) | ||||||
Median [IQR] | 9.6 [6.9, 11.7] | ||||||
NfL CSF in pg/ml | |||||||
305.3 | 1003.4 | 201.3 | 292.1 | 237.8 | 302.3 | ||
Mean and SD | 390.4 (303.1) | ||||||
Median [IQR] | 297.2 [251.4, 304.6] | ||||||