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

• Register: ClinicalTrials.gov
• Last refreshed on: 8 June 2015
• Main ID: NCT01136304
• Date of registration: 31/05/2010
• Prospective Registration: No
• Primary sponsor: University Research Foundation for Lysosomal Storage Diseases, Inc.
• Public title: Validating a New Severity Score System for Adults With Type 1 Gaucher Disease (GD1)
• Scientific title: Retrospective and Prospective Validation of a Disease Severity Score System (DS3) for Adults With Type 1 Gaucher Disease (GD1)
• Date of first enrolment: April 2010
• Target sample size: 173
• Recruitment status: Completed
• URL: http://clinicaltrials.gov/show/NCT01136304
• Study type: Observational
• Study design: Observational Model: Cohort
• Phase: N/A

Countries of recruitment

United States

Contacts

• Name: Neal J Weinreb, MD
• Affiliation: University Research Foundation for Lysosomal Storage Diseases, Inc.

Key inclusion & exclusion 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



Age minimum: 18 Years
Age maximum: N/A
Gender: Both

Health Condition(s) or Problem(s) studied

Gaucher Disease

Intervention(s)

Drug: Imiglucerase

Primary Outcome(s)

Change in total DS3 severity score from baseline score [Time Frame: Calculated annually and assessed up to 25 years until either death, withdrawal from the study, or end of study]

Secondary ID(s)

URFLSD-2010-01

Source(s) of Monetary Support

Please refer to primary and secondary sponsors

Secondary Sponsor(s)

University of Pittsburgh