Identification of Undiagnosed Gaucher Disease
Status
Conditions
Treatments
Details and patient eligibility
About
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.
Enrollment
Sex
Ages
Volunteers
Inclusion criteria
- Must have records available in the Partners HealthCare Patient Data Registry
Exclusion criteria
- Must not have a diagnosis of Gaucher disease
Trial design
Primary purpose
Allocation
Interventional model
Masking
100 participants in 1 patient group
Trial contacts and locations
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Data sourced from clinicaltrials.gov
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