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NCT00359515 · ClinicalTrials.gov registry record
Genetic Analysis of Oculocerebrorenal Syndrome of Lowe
A clinical trial, sponsored by National Human Genome Research Institute (NHGRI).
- Completed
- Registry status
- 120
- Enrollment target
NCT00359515 is a clinical trial that has completed, run by National Human Genome Research Institute (NHGRI). The registered enrollment target is 120 participants.
The verdict
NCT00359515 has completed, sponsored by National Human Genome Research Institute (NHGRI).
- COMPLETED
- Registry status
- 120 participants
- Enrollment target
Study 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 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.
Trial Details
| Field | Value |
|---|---|
| Enrollment Target | 120 participants |
| Start Date | 2001-02-17 |
| Est. Completion | 2009-02-03 |
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Full Details on ClinicalTrials.gov ↗What the Registry Record Tells You About NCT00359515
The ClinicalTrials.gov registry entry for NCT00359515 describes a study currently listed as completed, categorized as an unspecified phase. The registered enrollment target is 120 participants, a figure that helps gauge the scale of data the investigators plan to collect. The listed sponsor is National Human Genome Research Institute (NHGRI), which has 185 total studies on file at ClinicalTrials.gov.
The record links to 0 conditions, and to 0 interventions.
NCT00359515 reports 0 study locations.
Frequently Asked Questions
What is clinical trial NCT00359515 about?
NCT00359515 is a clinical study titled "Genetic Analysis of Oculocerebrorenal Syndrome of Lowe". 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 exa...
What is the current status of trial NCT00359515?
This trial is currently completed. The enrollment target is 120 participants. The study started on 2001-02-17. Estimated completion is 2009-02-03.
Who is sponsoring clinical trial NCT00359515?
This trial is sponsored by National Human Genome Research Institute (NHGRI), which has 185 total clinical trials registered on ClinicalTrials.gov.
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