Gaucher Disease
Conditions
Keywords
Gaucher disease, lysosomal storage disorder, metabolic disease, medical records review
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.
Interventions
OTHEREnzyme analysis
Sponsors
Genzyme, a Sanofi Company
Brigham and Women's Hospital
Study design
Allocation
NA
Intervention model
SINGLE_GROUP
Primary purpose
DIAGNOSTIC
Masking
NONE
Eligibility
Sex/Gender
ALL
Age
18 Years to No maximum
Healthy volunteers
No
Inclusion criteria
* Must have records available in the Partners HealthCare Patient Data Registry
Exclusion criteria
* Must not have a diagnosis of Gaucher disease
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| number of patients with previously undiagnosed GD identified | up to 2 years |
Countries
United States
Outcome results
None listed