Identification of Undiagnosed Gaucher Disease

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.

Study Overview

• Status: Unknown
• Conditions: Gaucher Disease
• Intervention / Treatment: Other: Enzyme analysis

• Study Type: Interventional
• Enrollment (Anticipated): 100
• Phase: Not Applicable

Contacts and Locations

Study Locations

• United States
  • Massachusetts
    • Boston, Massachusetts, United States, 02115
      • Brigham and Women's Hosptial

Participation Criteria

Eligibility Criteria

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

Description

Inclusion Criteria:

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

Exclusion Criteria:

• Must not have a diagnosis of Gaucher disease

Study Plan

How is the study designed?

Design Details

• Primary Purpose: Diagnostic
• Allocation: N/A
• Interventional Model: Single Group Assignment
• Masking: None (Open Label)

Number of Arms

1

Arms and Interventions

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

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Time Frame
number of patients with previously undiagnosed GD identified	up to 2 years

Collaborators and Investigators

• Sponsor: Brigham and Women's Hospital
• Collaborators: Genzyme, a Sanofi Company
• Investigators: Principal Investigator: Michael F Murray, MD, Brigham and Women's Hospital

Study record dates

Study Major Dates

• Study Start: August 1, 2012
• Primary Completion (Anticipated): August 1, 2014

Study Registration Dates

• First Submitted: October 26, 2012
• First Submitted That Met QC Criteria: October 26, 2012
• First Posted (Estimate): October 30, 2012

Study Record Updates

• Last Update Posted (Estimate): October 30, 2012
• Last Update Submitted That Met QC Criteria: October 26, 2012
• Last Verified: August 1, 2012

More Information

Terms related to this study

• Keywords: Gaucher disease; metabolic disease; lysosomal storage disorder; medical records review
• Additional Relevant MeSH Terms: Metabolic Diseases; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Genetic Diseases, Inborn; Metabolism, Inborn Errors; Lysosomal Storage Diseases; Lipid Metabolism Disorders; Brain Diseases, Metabolic; Brain Diseases, Metabolic, Inborn; Sphingolipidoses; Lysosomal Storage Diseases, Nervous System; Lipidoses; Lipid Metabolism, Inborn Errors; Gaucher Disease
• Other Study ID Numbers: 2012P000469