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Identification of Undiagnosed Gaucher Disease

NCT ID: NCT01716741

Last Updated: 2012-10-30

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

UNKNOWN

Clinical Phase

NA

Total Enrollment

100 participants

Study Classification

INTERVENTIONAL

Study Start Date

2012-08-31

Brief Summary

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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

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Conditions

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Gaucher Disease

Keywords

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Gaucher disease lysosomal storage disorder metabolic disease medical records review

Study Design

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Allocation Method

NA

Intervention Model

SINGLE_GROUP

Primary Study Purpose

DIAGNOSTIC

Blinding Strategy

NONE

Study Groups

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Enzyme analysis

Patients invited for evaluation will undergo glucocerebrosidase enzyme analysis

Group Type OTHER

Enzyme analysis

Intervention Type OTHER

Interventions

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Enzyme analysis

Intervention Type OTHER

Eligibility Criteria

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Inclusion Criteria

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

Exclusion Criteria

* Must not have a diagnosis of Gaucher disease
Minimum Eligible Age

18 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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Genzyme, a Sanofi Company

INDUSTRY

Sponsor Role collaborator

Brigham and Women's Hospital

OTHER

Sponsor Role lead

Responsible Party

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Michael Murray

Clinical Chief, Division of Genetics

Responsibility Role PRINCIPAL_INVESTIGATOR

Principal Investigators

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Michael F Murray, MD

Role: PRINCIPAL_INVESTIGATOR

Brigham and Women's Hospital

Locations

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Brigham and Women's Hosptial

Boston, Massachusetts, United States

Site Status

Countries

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United States

Other Identifiers

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2012P000469

Identifier Type: -

Identifier Source: org_study_id