Identification of Undiagnosed Gaucher Disease

Not Applicable

• Conditions: Gaucher Disease
• Interventions: Other: Enzyme analysis

• Registration Number: NCT01716741
• Lead Sponsor: 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.

Detailed Description

Not available

Study Timeline

• Status Verified: 2012-08
• Study Start: 2012-08
• Study First Submitted: 2012-10-26
• Study First Submitted QC: 2012-10-26
• Last Update Submitted: 2012-10-26
• Study First Posted: 2012-10-30
• Last Update Posted: 2012-10-30
• Primary Completion: 2014-08

Recruitment & Eligibility

• Status: UNKNOWN
• Sex: All
• Target Recruitment: 100

Inclusion Criteria

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

Exclusion Criteria

• Must not have a diagnosis of Gaucher disease

Study & Design

• Study Type: INTERVENTIONAL
• Study Design: SINGLE_GROUP

Arm && Interventions

Group	Intervention	Description
Enzyme analysis	Enzyme analysis	Patients invited for evaluation will undergo glucocerebrosidase enzyme analysis

Primary Outcome Measures

Name	Time	Method
number of patients with previously undiagnosed GD identified	up to 2 years

Trial Locations

Locations (1)

Brigham and Women's Hosptial; 🇺🇸 Boston, Massachusetts, United States