MedTrace Logo

Genetic Analysis of Oculocerebrorenal Syndrome of Lowe

NCT00359515 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 120

Last updated 2017-07-02

No results posted yet for this 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.

Conditions

  • Lowe Syndrome

Sponsors & Collaborators

  • National Human Genome Research Institute (NHGRI)

    lead NIH

Eligibility

Sex
MALE
Healthy Volunteers
No

Timeline & Regulatory

Start
2001-02-17
Completion
2009-02-03

Countries

  • United States

Study Locations

More Related Trials

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT00359515 on ClinicalTrials.gov