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

NCT01136304 | Completed

• 1 other identifier: URFLSD-2010-01
• Study Type: observational
• Target: 173
• Locations: 1 country
• Sites: 2

Brief 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.

Conditions

Gaucher Disease

Keywords

Gaucher disease; Imiglucerase; Cerezyme; Severity score

Outcome Measures

Primary Outcomes (1)

• Change in total DS3 severity score from baseline score

  The DS3 score is calculated annually from either date of first treatment or, in untreated patients, from date of first enrollment in the ICGG Gaucher Registry

  Calculated annually and assessed up to 25 years until either death, withdrawal from the study, or end of study

Study Arms (1)

Adults with Type 1 Gaucher disease (GD1)

Adults with GD1 who are cared for at one of the participating research sites whether treatment naive or treated in past or currently with imiglucerase enzyme replacement treatment.

Drug: Imiglucerase

Interventions

Imiglucerase DRUG

Imiglucerase intravenous infusions regardless of dose or schedule of administration.

Also known as: Cerezyme

Adults with Type 1 Gaucher disease (GD1)

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Consenting adult patients with type 1 Gaucher disease who are cared for at one of the participating research sites and who are enrolled in the International Collaborative Gaucher Group Gaucher Registry

You may qualify if:

• 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.

You may not qualify if:

• 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

Sponsors & Collaborators

• University Research Foundation for Lysosomal Storage Diseases, Inc.: lead
• University of Pittsburgh: collaborator

Study Sites (2)

Tower Cancer Research Foundation

Beverly Hills, California, 90211, United States

Location

Northwest Oncology Hematology Associates PA

Coral Springs, Florida, 33065, United States

Location

Related Publications (3)

• Weinreb NJ, Cappellini MD, Cox TM, Giannini EH, Grabowski GA, Hwu WL, Mankin H, Martins AM, Sawyer C, vom Dahl S, Yeh MS, Zimran A. A validated disease severity scoring system for adults with type 1 Gaucher disease. Genet Med. 2010 Jan;12(1):44-51. doi: 10.1097/GIM.0b013e3181c39194.

  PMID: 20027115 BACKGROUND

• Weinreb NJ, Finegold DN, Feingold E, Zeng Z, Rosenbloom BE, Shankar SP, Amato D. Evaluation of disease burden and response to treatment in adults with type 1 Gaucher disease using a validated disease severity scoring system (DS3). Orphanet J Rare Dis. 2015 May 22;10:64. doi: 10.1186/s13023-015-0280-3.

  PMID: 25994334 RESULT

• Ganz ML, Stern S, Ward A, Nalysnyk L, Selzer M, Hamed A, Weinreb N. A new framework for evaluating the health impacts of treatment for Gaucher disease type 1. Orphanet J Rare Dis. 2017 Feb 20;12(1):38. doi: 10.1186/s13023-017-0592-6.

  PMID: 28219443 DERIVED

Biospecimen

Retention: SAMPLES WITH DNA

Whole blood Buccal smears

MeSH Terms

Conditions

Gaucher Disease

Interventions

imiglucerase

Condition Hierarchy (Ancestors)

Sphingolipidoses; Lysosomal Storage Diseases, Nervous System; Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Lipidoses; Lipid Metabolism, Inborn Errors; Lysosomal Storage Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases; Lipid Metabolism Disorders

Study Officials

• Neal J Weinreb, MD

  University Research Foundation for Lysosomal Storage Diseases, Inc.

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Principal Investigator

Study Record Dates

• First Submitted: May 31, 2010
• First Posted: June 3, 2010
• Study Start: April 1, 2010
• Primary Completion: December 1, 2013
• Study Completion: December 1, 2013
• Last Updated: June 1, 2015

Record last verified: 2015-05

Locations

US (2)