|
Protocol Number:
01-HG-0095
- Title:
Mutation Detection for Lowe Syndrome
- Number:
01-HG-0095
- 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.
- Sponsoring Institute:
-
National Human Genome Research Institute (NHGRI)
- Recruitment Detail
- Type:
Completed Study; data analyses ongoing
- Gender:
Male
- Referral Letter Required:
Yes
- Population Exclusion(s):
Female
- Eligibility Criteria:
This study is not currently recruiting new subjects. If you have questions about participating in a study, please contact the Patient Recruitment and Public Liaison Office, CC.
- Special Instructions:
Currently Not Provided
- Keyword(s):
-
Archived Samples
-
Mutation Screening
-
Genotype-Phenotype Correlation
-
Pediatric Developmental Disorder
-
Cataracts
-
Mutation Detection
- Recruitment Keyword(s):
-
Lowe Syndrome
-
Mutation Screening
-
Genotype
- Condition(s):
-
Lowe Syndrome
- Investigational Drug(s):
- None
- Investigational Device(s):
- None
- Interventions:
- None
- Supporting Site:
-
National Human Genome Research Institute
- Contact(s):
-
This study is not currently recruiting new subjects. If you have questions about participating in a study, please contact the Patient Recruitment and Public Liaison Office, CC.
- Citation(s):
Not Provided
If you have:
Search The Studies | Help | Questions | Clinical Center Home | NIH Home
National Institutes of Health Clinical Center
Bethesda, Maryland 20892. Last update: 09/15/2008
|
|