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Retrospective and Prospective Validation of DS3 Severity Score System for Adults With Type 1 Gaucher Disease (GD1)

18 Years
Open (Enrolling by invite only)
Gaucher Disease

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Trial Information

Retrospective and Prospective Validation of DS3 Severity Score System for Adults With Type 1 Gaucher Disease (GD1)

GD1 is a prototypical lysosomal storage disorder and the first disorder to have compelling
evidence of successful treatment with enzyme replacement therapy. The common clinical
manifestations are hematologic cytopenias, hepatomegaly, splenomegaly, and a spectrum of
skeletal pathologies. Disease expression is diverse. The rate and extent of disease
progression are variable and often independent of the age at which symptoms are first
reported1. Despite a long history of treatment efficacy2, there is significant heterogeneity
of response among patients with regard to the maximum improvement in hematologic, visceral,
bone, and other manifestations and the dynamic speed of response during therapy1-3. There
have been few well-designed studies that comprehensively annotate phenotypic variation over
time or measure treatment efficacy and dose response. In part, this is attributable to lack
of a validated disease severity scoring system for GD1 to standardize the monitoring of
progression and treatment response and to define patient cohorts in clinical studies.

DS3 is a method of expressing an integrated assessment of the burden of disease in a given
patient. It can be used to monitor patient status, determine endpoints in clinical studies,
classify disease phenotypes and compare patients with the same disease. Although frequently
referred to as 'disease severity indices,' DS3 instruments may also include measures of
disease activity and damage. DS3s utilize a minimal data set to score the patient in a
comprehensive manner. They usually are structured as a group of domains (often according to
organ system) that are populated with non-redundant items that are valid, reliable, use
feasible, standardized methods of assessment, and that are variably weighted based on
associated morbidity and mortality. A DS3 for adult GD1 patients was recently developed and
subjected to successful preliminary testing for validity, reliability and feasibility4. With
respect to changes over time, a minimal clinically important difference was defined.
Construct validity has been partially demonstrated. Using 20 patient profiles from the
International Collaborative Gaucher Group (ICGG) Gaucher Registry, the instrument was shown
to correlate very well with the "gold standard" clinical global impression scale. However,
larger scale testing in a population that is representative of the world wide distribution
of GD1 phenotypes (including splenectomy patients) is needed and predictive validity has yet
to be determined. Moreover, the DS3 has not yet been correlated with disease-specific
measures of response such as achievement of therapeutic goals or broadly used biomarkers.
Combining retrospective and prospective analysis, this study is designed to address these

Inclusion Criteria:

- Adult patients with Type 1 Gaucher disease regardless of treatment status who are
enrolled in the International Collaborative Gaucher Group (ICCG) Gaucher Registry and
who are cared for at one of the participating research sites.

Exclusion Criteria:

- Children under the age of 18 years

- Patients with Type 3 Gaucher disease

- Patients who have declined to be enrolled in the ICCG Gaucher Registry

- Patients not cared for at one of the participating research sites

Type of Study:


Study Design:

Observational Model: Cohort

Principal Investigator

Neal J Weinreb, MD

Investigator Role:

Principal Investigator

Investigator Affiliation:

University Research Foundation for Lysosomal Storage Diseases, Inc.


United States: Institutional Review Board

Study ID:




Start Date:

April 2010

Completion Date:

September 2012

Related Keywords:

  • Gaucher Disease
  • Gaucher disease
  • Imiglucerase
  • Cerezyme
  • Severity score
  • Gaucher Disease



Tower Cancer Research Foundation Beverly Hills, California  90211
Northwest Oncology Hematology Associates PA Coral Springs, Florida  33065