Table 1: Gaucher Disease Type 1 Severity Scoring System (GD-DS3) before and after 6-years of eliglustat treatment.
|
Patient 1 ERT naïve |
Patient 2 ERT switch |
Patient 3 |
Patient 4 ERT switch |
Patient 5 ERT switch |
||||||
Gaucher Disease Type 1 Severity |
ERT NAIVE |
6Y ELIG |
STOP ERT |
6Y ELIG |
STOP ERT |
6Y ELIG |
STOP ERT |
6Y ELIG |
STOP ERT |
6Y ELIG |
|
BONE |
Lytic Lesion, AVN, Fracturesa |
0 (absent) |
0 (absent) |
0 (present not new) |
0 (none new) |
0 (absent) |
0 (absent) |
0 (present not new) |
0 (none new) |
0 (present not new) |
0 (none new) |
Bone/Joint Pain (past 30 days) |
5 (Mod) |
0 |
8 (Sev) |
2 (Mild) |
0 |
0 |
5 (Mod) |
0 |
0 |
0 |
|
Bone crisis (past 12 months) |
2 (≥ 2) |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
|
Bone Marrow Infiltration (BMB) Femur Lumbar Total points Severity |
≥ 4 7 ≥ 11 (10 pt) Marked/ |
4 4 8 (8 pt) Mod |
7 4 11 (10 pt) Marked/ |
4 4 8 (8 pt) Mod |
4 3 7 (8 pt) Mod |
4 3 7 (8 pt) Mod |
8 4 12 (10 pt) Marked/ |
7 5 12 (10 pt) Marked/ |
7 7 14 (10 pt) Marked/ |
6 7 13 (10 pt) Marked/ |
|
DUSSEL-DORF |
Anatomical score |
5 |
1 |
8 |
3 |
5 |
2 |
≥ 6 |
6 |
7 |
7 |
Morphology |
B |
B |
B |
B |
B |
B |
B |
B |
B |
B |
|
|
BMD lumbar |
0 |
0 |
0 |
0 |
2 |
2 |
0 |
0 |
0 |
0 |
Bone Domain Score |
3.8 |
2 |
3.6 |
2.0 |
2 |
2 |
3 |
2.0 |
2.0 |
2.0 |
|
HEMAT-OLOGIC |
Thrombocytopeniab |
0 |
0 |
2 |
0 |
2 |
0 |
0 |
0 |
0 |
0 |
Bleeding |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
|
Anemia |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
|
VISC- |
Splenomegalyc |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
5d |
5d |
Hepatomegaly |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
|
Pulmonary Disease |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
0 |
|
TOTAL |
Total GD-DS3 Score |
3.8 (mod) |
2 (mild) |
4.3 (mod) |
2 (mild) |
2.7 (mild) |
2 (mild) |
3 (mod) |
2 (mild) |
3.6 (mod) |
3.6 (mod) |
BIO-MARKERS |
CHITO nmmol/h/mL (% reduction) |
1924 |
364 (81) |
200 |
108 (46) |
247 |
79 (68) |
1246 |
215 (83) |
1700 |
309 (82) |
FERRITIN ng/mL (% reduction) |
557.9 |
33.5 (94) |
574.2 |
246.1 (57) |
213.3 |
64.8 |
314 |
37.7 (88) |
209.2 |
51.3 (75) |
AVN: Avascular Osteonecrosis; BMB: Bone Marrow Burden; ERT: Enzyme-Replacement Therapy; MN: Multiples of Normal; ND: Not Determined; mod: Moderate; pt: Patients; sev: Severe.
BMD lumbar Z-score < -2.5 = osteoporosis, -1 to -2.5 = osteopenia.
aLytic Lesion, AVN, Fractures, new within 12 months prior to time of scoring; bThrombocytopenia defined as platelets < 120 × 109/mm3; cSplenectomy (or > 15 MN volume) scores 5 points; dSplenectomy was performed 21-years prior to oral SRT eliglustat.