Identification of Undiagnosed Gaucher Disease

This study is enrolling participants by invitation only.
Sponsor:
Collaborator:
Genzyme, a Sanofi Company
Information provided by (Responsible Party):
Michael Murray, Brigham and Women's Hospital
ClinicalTrials.gov Identifier:
NCT01716741
First received: October 26, 2012
Last updated: NA
Last verified: August 2012
History: No changes posted

October 26, 2012
October 26, 2012
August 2012
August 2014   (final data collection date for primary outcome measure)
number of patients with previously undiagnosed GD identified [ Time Frame: up to 2 years ] [ Designated as safety issue: No ]
Same as current
No Changes Posted
Not Provided
Not Provided
Not Provided
Not Provided
 
Identification of Undiagnosed Gaucher Disease
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.

Not Provided
Interventional
Not Provided
Intervention Model: Single Group Assignment
Masking: Open Label
Primary Purpose: Diagnostic
Gaucher Disease
Other: Enzyme analysis
Enzyme analysis
Patients invited for evaluation will undergo glucocerebrosidase enzyme analysis
Intervention: Other: Enzyme analysis
Not Provided

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Enrolling by invitation
100
Not Provided
August 2014   (final data collection date for primary outcome measure)

Inclusion Criteria:

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

Exclusion Criteria:

  • Must not have a diagnosis of Gaucher disease
Both
18 Years and older
No
Contact information is only displayed when the study is recruiting subjects
United States
 
NCT01716741
2012P000469
No
Michael Murray, Brigham and Women's Hospital
Brigham and Women's Hospital
Genzyme, a Sanofi Company
Principal Investigator: Michael F Murray, MD Brigham and Women's Hospital
Brigham and Women's Hospital
August 2012

ICMJE     Data element required by the International Committee of Medical Journal Editors and the World Health Organization ICTRP