Genetic Analysis of Oculocerebrorenal Syndrome of Lowe
Completed
Conditions studied: Lowe Syndrome
In brief
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 development of the eye lens, developmental delay, muscle weakness and kidney dysfunction. The study will examine DNA and cell samples obtained and archived from patients with OCRL enrolled in a previous protocol (HG008A) between 1996 and 1999. It will identify mutations in the OCRL1 gene responsible for OCRL in affected males and try to correlate them with specific biochemical or cellular activities (e.g., enzyme activity, protein stability, cellular localization and trafficking). When test results are available, the information will be communicated to the patients, their parents (if the patient is a minor) and their physicians, and families will receive genetic counseling.
Key facts
- Study ID
- NCT00359515
- Run by
- National Human Genome Research Institute (NHGRI)
- People needed
- 120
- Starts
- 2001-02-17
- Expected to finish
- 2009-02-03
- Last updated by the study team
- 2017-07-02
Who can join
Age: any. Sex: male. Healthy volunteers: not accepted.
Where it is running
- National Institutes of Health Clinical Center, 9000 Rockville Pike — Bethesda, Maryland, United States
Full record on ClinicalTrials.gov
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