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Genetic Analysis of Oculocerebrorenal Syndrome of Lowe

This study has been completed.
Information provided by:
National Institutes of Health Clinical Center (CC) Identifier:
First received: August 1, 2006
Last updated: January 24, 2017
Last verified: February 3, 2009

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.

Lowe Syndrome

Study Type: Observational
Official Title: Mutation Detection for Lowe Syndrome

Resource links provided by NLM:

Further study details as provided by National Institutes of Health Clinical Center (CC):

Estimated Enrollment: 120
Study Start Date: February 17, 2001
Estimated Study Completion Date: February 3, 2009
Detailed Description:

Oculocerebrorenal syndrome of Lowe (OCRL) is a rare X-linked disorder characterized by congenital cataracts, mental retardation, and renal tubular dysfunction. Patients with known or suspected OCRL were enrolled under previous protocol 96-HG-0008 that expired in 1998 and was not renewed. We are continuing studies of DNA and cell samples obtained and archived under our previous protocol to identify mutations in the OCRL1 gene responsible for Lowe syndrome and related disorders in affected males and attempt to correlate these mutations to particular biochemical or cellular phenotypes (enzyme activity, protein stability, cellular localization and trafficking). Information about genotypes will not be communicated back to the patients, their parents (if patient is a minor) or their physicians as part of this study.

We are also continuing our investigations of heterogeneity in OCRL by studying collected cell cultures from our collaborator Dr. Steven Scheinman at Suny New York Medical University, Syracuse, from a group of patients with mutations in OCRL1 who have Dent disease, characterized by renal tubular dysfunction. These data, and the variability in the renal and CNS abnormalities that occur in OCRL are evidence for the existence of modifiers. We propose to identify genes that are differentially expressed in cells from OCRL patients, patients with Dent disease and OCRL1 mutations by gene expression analysis of RNA from patient samples.

As part of our study on phenotypic and genetic heterogeneity in OCRL, mutation analysis resulted in the identification of mutations mostly in the second two-thirds of OCRL1. However, the OCRL1 mutations in the Dent disease patients have been found in the first third of OCRL1. We plan to send samples from Lowe syndrome patients without identified OCRL1 mutations to a Dr. Steven Scheinman who will look for such OCRL1 mutations. He will be sent only coded samples and will look for such OCRL1 mutations. He will be sent only coded samples and will not have access to patient identifiers. This information will be used for research purposes only.


Ages Eligible for Study:   Child, Adult, Senior
Sexes Eligible for Study:   Male
Accepts Healthy Volunteers:   No

Male gender, history of congenital cataracts, proximal renal tubular dysfunction, and developmental delay.

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Please refer to this study by its identifier: NCT00359515

United States, Maryland
National Institutes of Health Clinical Center, 9000 Rockville Pike
Bethesda, Maryland, United States, 20892
Sponsors and Collaborators
National Human Genome Research Institute (NHGRI)
  More Information Identifier: NCT00359515     History of Changes
Other Study ID Numbers: 010095
Study First Received: August 1, 2006
Last Updated: January 24, 2017

Keywords provided by National Institutes of Health Clinical Center (CC):
Archived Samples
Mutation Screening
Genotype-Phenotype Correlation
Pediatric Developmental Disorder
Mutation Detection
Lowe Syndrome

Additional relevant MeSH terms:
Oculocerebrorenal Syndrome
Pathologic Processes
Brain Diseases, Metabolic, Inborn
Brain Diseases, Metabolic
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Renal Tubular Transport, Inborn Errors
Kidney Diseases
Urologic Diseases
Abnormalities, Multiple
Congenital Abnormalities
Genetic Diseases, X-Linked
Genetic Diseases, Inborn
Amino Acid Transport Disorders, Inborn
Metabolism, Inborn Errors
Metabolic Diseases processed this record on May 25, 2017