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Trial record 8 of 128 for:    "Gaucher Disease" [DISEASE]

Identification of Undiagnosed Gaucher Disease

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT01716741
Recruitment Status : Unknown
Verified August 2012 by Michael Murray, Brigham and Women's Hospital.
Recruitment status was:  Enrolling by invitation
First Posted : October 30, 2012
Last Update Posted : October 30, 2012
Genzyme, a Sanofi Company
Information provided by (Responsible Party):
Michael Murray, Brigham and Women's Hospital

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

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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

Resource links provided by the National Library of Medicine

MedlinePlus related topics: Gaucher Disease

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

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

Information from the National Library of Medicine

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Ages Eligible for Study:   18 Years and older   (Adult, Older Adult)
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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT01716741

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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
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Principal Investigator: Michael F Murray, MD Brigham and Women's Hospital
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Responsible Party: Michael Murray, Clinical Chief, Division of Genetics, Brigham and Women's Hospital Identifier: NCT01716741    
Other Study ID Numbers: 2012P000469
First Posted: October 30, 2012    Key Record Dates
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:
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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