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Trial record 8 of 123 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.
 
ClinicalTrials.gov 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
Sponsor:
Collaborator:
Genzyme, a Sanofi Company
Information provided by (Responsible Party):
Michael Murray, Brigham and Women's Hospital

Tracking Information
First Submitted Date  ICMJE October 26, 2012
First Posted Date  ICMJE October 30, 2012
Last Update Posted Date October 30, 2012
Study Start Date  ICMJE August 2012
Estimated Primary Completion Date August 2014   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures  ICMJE
 (submitted: October 26, 2012)
number of patients with previously undiagnosed GD identified [ Time Frame: up to 2 years ]
Original Primary Outcome Measures  ICMJE Same as current
Change History No Changes Posted
Current Secondary Outcome Measures  ICMJE Not Provided
Original Secondary Outcome Measures  ICMJE Not Provided
Current Other Pre-specified Outcome Measures Not Provided
Original Other Pre-specified Outcome Measures Not Provided
 
Descriptive Information
Brief Title  ICMJE Identification of Undiagnosed Gaucher Disease
Official Title  ICMJE Identification of Undiagnosed Gaucher Disease
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.
Detailed Description Not Provided
Study Type  ICMJE Interventional
Study Phase  ICMJE Not Applicable
Study Design  ICMJE Allocation: N/A
Intervention Model: Single Group Assignment
Masking: None (Open Label)
Primary Purpose: Diagnostic
Condition  ICMJE Gaucher Disease
Intervention  ICMJE Other: Enzyme analysis
Study Arms  ICMJE Enzyme analysis
Patients invited for evaluation will undergo glucocerebrosidase enzyme analysis
Intervention: Other: Enzyme analysis
Publications * Not Provided

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruitment Information
Recruitment Status  ICMJE Unknown status
Estimated Enrollment  ICMJE
 (submitted: October 26, 2012)
100
Original Estimated Enrollment  ICMJE Same as current
Study Completion Date  ICMJE Not Provided
Estimated Primary Completion Date August 2014   (Final data collection date for primary outcome measure)
Eligibility Criteria  ICMJE

Inclusion Criteria:

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

Exclusion Criteria:

  • Must not have a diagnosis of Gaucher disease
Sex/Gender  ICMJE
Sexes Eligible for Study: All
Ages  ICMJE 18 Years and older   (Adult, Older Adult)
Accepts Healthy Volunteers  ICMJE No
Contacts  ICMJE Contact information is only displayed when the study is recruiting subjects
Listed Location Countries  ICMJE United States
Removed Location Countries  
 
Administrative Information
NCT Number  ICMJE NCT01716741
Other Study ID Numbers  ICMJE 2012P000469
Has Data Monitoring Committee No
U.S. FDA-regulated Product Not Provided
IPD Sharing Statement  ICMJE Not Provided
Responsible Party Michael Murray, Brigham and Women's Hospital
Study Sponsor  ICMJE Brigham and Women's Hospital
Collaborators  ICMJE Genzyme, a Sanofi Company
Investigators  ICMJE
Principal Investigator: Michael F Murray, MD Brigham and Women's Hospital
PRS Account Brigham and Women's Hospital
Verification Date August 2012

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