Clinical Trial: Identification of Undiagnosed Gaucher Disease

Study Status: Recruiting
Recruit Status: Unknown status
Study Type: Interventional

Official Title: 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 Summary:
Sponsor: Brigham and Women's Hospital

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

Original Primary Outcome: Same as current

Current Secondary Outcome:

Original Secondary Outcome:

Information By: Brigham and Women's Hospital

Dates:
Date Received: October 26, 2012
Date Started: August 2012
Date Completion:
Last Updated: October 26, 2012
Last Verified: August 2012