Identification of Undiagnosed Gaucher Disease

Status unconfirmed · Not applicable

Conditions studied: Gaucher Disease

In brief

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.

Key facts

Study ID

NCT01716741

Run by

Brigham and Women's Hospital

People needed

100

Starts

2012-08-01

Last updated by the study team

2012-10-30

Who can join

Age: 18 and older. Sex: any. Healthy volunteers: not accepted.

You may qualify if…

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

You may not qualify if…

• Must not have a diagnosis of Gaucher disease

Where it is running

• Brigham and Women's Hosptial — Boston, Massachusetts, United States

Full record on ClinicalTrials.gov

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