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Research Studies

Division of Human Genetics Research Studies

Find research studies available to children cared for by the Division of Human Genetics team.

Appointments and referrals

Recruitment Status

Specialty

Eligible age

Clinical trial phase

CTX and Idiopathic Bilateral Cataracts in Pediatric Patients

CTX is typically a highly progressive disease, with case reports of symptoms that first appear at any time from birth through adulthood and then worsen over time. Because idiopathic bilateral cataracts occur at an early age in many children with CTX, biomarker testing of these children presents an opportunity for diagnosing children with CTX. Eligible participants will be asked to give a small blood sample and urine sample, and may have genetic testing done to see if they have the gene for CTX. This study will take place on 1 visit for approximately 30 minutes.

Phase: N/A

Actively recruiting: No

Category: Adults, Children, One-Time Visit Studies

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