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Identification of Undiagnosed Gaucher Disease

The recruitment status of this study is unknown. The completion date has passed and the status has not been verified in more than two years.
Verified August 2012 by Brigham and Women's Hospital.
Recruitment status was:  Enrolling by invitation
Genzyme, a Sanofi Company
Information provided by (Responsible Party):
Michael Murray, Brigham and Women's Hospital Identifier:
First received: October 26, 2012
Last updated: NA
Last verified: August 2012
History: No changes posted
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 Intervention
Gaucher Disease
Other: Enzyme analysis

Study Type: Interventional
Study Design: Intervention Model: Single Group Assignment
Masking: Open Label
Primary Purpose: Diagnostic
Official Title: Identification of Undiagnosed Gaucher Disease

Resource links provided by NLM:

Further study details as provided by Brigham and Women's Hospital:

Primary Outcome Measures:
  • number of patients with previously undiagnosed GD identified [ Time Frame: up to 2 years ]

Estimated Enrollment: 100
Study Start Date: August 2012
Estimated Primary Completion Date: August 2014 (Final data collection date for primary outcome measure)
Arms Assigned Interventions
Enzyme analysis
Patients invited for evaluation will undergo glucocerebrosidase enzyme analysis
Other: Enzyme analysis


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

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
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT01716741

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
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 Identifier: NCT01716741     History of Changes
Other Study ID Numbers: 2012P000469
Study First Received: October 26, 2012
Last Updated: October 26, 2012

Keywords provided by Brigham and Women's Hospital:
Gaucher disease
lysosomal storage disorder
metabolic disease
medical records review

Additional relevant MeSH terms:
Gaucher Disease
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
Lipid Metabolism, Inborn Errors
Lysosomal Storage Diseases
Metabolic Diseases
Lipid Metabolism Disorders processed this record on April 25, 2017