Lowe Syndrome Clinical Trial
Official title:
Mutation Detection for Lowe Syndrome
Verified date | February 3, 2009 |
Source | National Institutes of Health Clinical Center (CC) |
Contact | n/a |
Is FDA regulated | No |
Health authority | |
Study type | Observational |
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.
Status | Completed |
Enrollment | 120 |
Est. completion date | February 3, 2009 |
Est. primary completion date | |
Accepts healthy volunteers | No |
Gender | Male |
Age group | N/A and older |
Eligibility |
- INCLUSION CRITERIA: Male gender, history of congenital cataracts, proximal renal tubular dysfunction, and developmental delay. |
Country | Name | City | State |
---|---|---|---|
United States | National Institutes of Health Clinical Center, 9000 Rockville Pike | Bethesda | Maryland |
Lead Sponsor | Collaborator |
---|---|
National Human Genome Research Institute (NHGRI) |
United States,
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