Validating a New Severity Score System for Adults With Type 1 Gaucher Disease (GD1)
Status:
Completed
Trial end date:
2013-12-01
Target enrollment:
Participant gender:
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.
Details
Lead Sponsor:
University Research Foundation for Lysosomal Storage Diseases, Inc.