Monitoring and Predicting Outcomes of Birdshot Chorioretinopathy: A Clinicogenomics Study

Primary Objective

This study plans to learn more about the inherited genetic factors that cause Birdshot chorioretinitis and the risk factors associated with this disease. We also aim to include your family members (parents and siblings) to determine if there are any genetic differences between individuals who do not have this disease.

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Description

For patients with BSCR, blood sample draw will be obtained (with option for minimally invasive cheek/saliva swab) in the clinic and clinical data will be collected. There are no planned interventions outside of their normal standard of care. Patients will then be contacted by our clinical team to administer the quality-of-life survey(s). Their physician will input their clinical parameters/treatments into REDCap. For family members of patients with BSCR, cheek/saliva swab for genomic sequencing will be obtained by mailing a collecting kit with return envelope for processing. When contacted by our team, the family members will provide their relationship to the index patient/participant, their BSCR status and date of birth/gender. There will be no medical record review for family members

Details
Age
Adult
Eligibility
(All participants will be >18Y old) X Patients with Birdshot chorioretinitis X First degree relatives of patients with Birdshot chorioretinitis
Locations

University of Colorado Hospital

Principal Investigator
Photograph of Alan Palestine

Alan Palestine

Study ID

Protocol Number: 22-1985

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