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
(CHITO mut)
ERT switch

Patient 4

ERT switch

Patient 5

ERT switch

Gaucher Disease Type 1 Severity
Scoring System (GD-DS3)

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/
sev

 

 

4

4

8 (8 pt)

Mod

 

 

7

4

11 (10 pt)

Marked/
sev

 

 

4

4

8 (8 pt)

Mod

 

 

4

3

7 (8 pt)

Mod

 

 

4

3

7 (8 pt)

Mod

 

 

8

4

12 (10 pt)

Marked/
sev

 

 

7

5

12 (10 pt)

Marked/
sev

 

 

7

7

14 (10 pt)

Marked/
sev

 

 

6

7

13 (10 pt)

Marked/
sev

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
Z-score

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-
ERAL

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
(70)

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.