Table 1 Gaucher disease type 1 DS3 scoring
General instructions | |
1. Record date of assessment | |
2. For each assessment, determine the GD1-DS3 score of the patient at the time of evaluation (See notes below regarding specific assessments). | |
a. If current data are not available for all assessments when the DS3 score is calculated, data from previous evaluations may be used if the patient’s overall clinical status has remained stable and assessments (bone and visceral imaging, hematological) were collected within 12-24 months before the current date: | |
b. If bone marrow infiltration and/or bone mineral density data are not available at the time of assessment or from previous evaluations, the DS3 has been optimized to be accurate and consistent without these parameters. | |
c. All other assessment scores within the time frames described above are required. | |
DS3 score calculation | |
1. First calculate the average Disease Domain Scores by adding the assessment scores for each domain (bone, hematological, visceral) and dividing by the number of assessment scores completed. Do not include assessments that were marked “not available” (NA) | |
2. The total GD1-DS3 score is the sum of the three Disease Domain Scores. | |
Maximum possible DS3 score | |
1. The maximum possible DS3 score is 19. | |
2. In initial validation testing using 20 patient cases scored at 2 different time points, no patient received a score higher than 13 and scores above 9 correlated with an expert assessment of “severe disease.” | |
Interpretation of GD1-DS3 scores | |
0-3 Borderline to mild disease | |
3-6 Moderate disease | |
6-9 Marked disease | |
>9 Severe disease | |
Notes regarding specific assessments | |
1. Lytic lesions, AVN or pathologic fracture “present” means any new occurrence in the past 12 months | |
2. Bone marrow infiltration may be reported either semi-quantitatively (BMB score) or qualitatively (mild, moderate, marked to severe | |
3. For bleeding, an assessment of moderate (no transfusions) or severe (transfusion needed) should be based on bleeding considered by the assessor to be related to GD, whether due to low platelet count, other hemostatic disorders or vascular disease such as portal hypertension | |
4. Assessment of bone pain should be based on severity in the absence of analgesics and should consider only pain resulting from GD rather than pain attributable to other concurrent musculoskeletal diseases. |