Validating a New Severity Score System for Adults With Type 1 Gaucher Disease (GD1)

• Status: Completed
• Trial end date: 2013-12-01
• Target enrollment: 0
• Participant gender: All

Summary

With the participation of an international consortium of investigators, the investigators will evaluate the validity of a new severity score system called DS3 for adult patients with Gaucher disease. The investigators hypothesize that initial DS3 scores will be predictive of both disease progression and patterns of response including imiglucerase dose sensitivity and completeness and maintenance of response and that sequential DS3 scores will accurately portray either clinical progression of disease or improvement in response to treatment. The investigators will also collect DNA specimens that in future research will be used in conjunction with the DS3 scores to evaluate determinants of the clinical course and the response to treatments for Gaucher disease.

• Accepts Healthy Volunteers?: No

Details

• Lead Sponsor: University Research Foundation for Lysosomal Storage Diseases, Inc.
• Collaborator: University of Pittsburgh

Criteria

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