Status:
COMPLETED
Genetic Analysis of Oculocerebrorenal Syndrome of Lowe
Lead Sponsor:
National Human Genome Research Institute (NHGRI)
Conditions:
Lowe Syndrome
Eligibility:
MALE
Brief Summary
This study will investigate the genetic basis of oculocerebrorenal syndrome of Lowe (OCRL)-a rare X-linked disorder (carried by females and passed to males). Patients with OCRL have abnormal developme...
Detailed Description
Oculocerebrorenal syndrome of Lowe (OCRL) is a rare X-linked disorder characterized by congenital cataracts, mental retardation, and renal tubular dysfunction. Patients with known or suspected OCRL we...
Eligibility Criteria
Inclusion
- INCLUSION CRITERIA:
- Male gender, history of congenital cataracts, proximal renal tubular dysfunction, and developmental delay.
Exclusion
Key Trial Info
Start Date :
February 17 2001
Trial Type :
OBSERVATIONAL
End Date :
February 3 2009
Estimated Enrollment :
120 Patients enrolled
Trial Details
Trial ID
NCT00359515
Start Date
February 17 2001
End Date
February 3 2009
Last Update
July 2 2017
Active Locations (1)
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1
National Institutes of Health Clinical Center, 9000 Rockville Pike
Bethesda, Maryland, United States, 20892