Identification of Undiagnosed Gaucher Disease

• ClinicalTrials.gov Identifier: NCT01716741
• Recruitment Status: Unknown
• First Posted: October 30, 2012
• Last Update Posted: October 30, 2012
• Sponsor: Brigham and Women's Hospital
• Collaborator: Genzyme, a Sanofi Company
• Information provided by (Responsible Party): Michael Murray, Brigham and Women's Hospital

Study Description

Brief Summary:

Partners HealthCare maintains a Patient Data Registry (PDR) with information from all patient encounters at Partners HealthCare facilities. We intend to utilize the PDR to identify groups of patient who are of high clinical suspicion for undiagnosed Gaucher disease. A group of potential participants will be identified through the PDR. Detailed records will be requested to further narrow to ideal participants based upon previously existing diagnoses and symptoms. Participants will be invited to partake in the study via a letter from their Partners care provider with supporting study details. Study participants will be evaluated in a one-time visit. A complete family and medical history will be collected. A physical exam will be performed, and up to 20cc of blood will be drawn. All participants will be notified of their disease status via letter and phone call from the study staff. If the study participant is diagnosed with GD through this evaluation, proper follow-up recommendations and referrals will be provided. Our intent is to determine if existing patient data can successfully be utilized to aid in the identification of patients with rare genetic disease.

Condition or disease	Intervention/treatment	Phase
Gaucher Disease	Other: Enzyme analysis	Not Applicable

Study Design

• Study Type: Interventional (Clinical Trial)
• Estimated Enrollment: 100 participants
• Allocation: N/A
• Intervention Model: Single Group Assignment
• Masking: None (Open Label)
• Primary Purpose: Diagnostic
• Official Title: Identification of Undiagnosed Gaucher Disease
• Study Start Date: August 2012
• Estimated Primary Completion Date: August 2014

Arms and Interventions

Arm	Intervention/treatment
Enzyme analysis; Patients invited for evaluation will undergo glucocerebrosidase enzyme analysis	Other: Enzyme analysis

Outcome Measures

Primary Outcome Measures :

1. number of patients with previously undiagnosed GD identified [ Time Frame: up to 2 years ]

Eligibility Criteria

• Ages Eligible for Study: 18 Years and older (Adult, Older Adult)
• Sexes Eligible for Study: All
• Accepts Healthy Volunteers: No

Criteria

Inclusion Criteria:

• Must have records available in the Partners HealthCare Patient Data Registry

Exclusion Criteria:

• Must not have a diagnosis of Gaucher disease

Contacts and Locations

Locations

United States, Massachusetts

Brigham and Women's Hosptial

Boston, Massachusetts, United States, 02115

Sponsors and Collaborators

Brigham and Women's Hospital

Genzyme, a Sanofi Company

Investigators

• Principal Investigator: Michael F Murray, MD; Brigham and Women's Hospital

More Information

• Responsible Party: Michael Murray, Clinical Chief, Division of Genetics, Brigham and Women's Hospital
• ClinicalTrials.gov Identifier: NCT01716741
• Other Study ID Numbers: 2012P000469
• First Posted: October 30, 2012
• Last Update Posted: October 30, 2012
• Last Verified: August 2012

Keywords provided by Michael Murray, Brigham and Women's Hospital:

Gaucher disease; lysosomal storage disorder; metabolic disease; medical records review

Additional relevant MeSH terms:

Gaucher Disease; 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; Lipidoses; Lipid Metabolism, Inborn Errors; Lysosomal Storage Diseases; Metabolic Diseases; Lipid Metabolism Disorders