NCT00359515

Brief 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 Health

87
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
120

participants targeted

Target at P50-P75 for all trials

Timeline
Completed

Started Feb 2001

Longer than P75 for all trials

Geographic Reach
1 country

1 active site

Status
completed

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

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Study Timeline

Key milestones and dates

Study Start

First participant enrolled

February 17, 2001

Completed
5.5 years until next milestone

First Submitted

Initial submission to the registry

August 1, 2006

Completed
1 day until next milestone

First Posted

Study publicly available on registry

August 2, 2006

Completed
2.5 years until next milestone

Study Completion

Last participant's last visit for all outcomes

February 3, 2009

Completed
Last Updated

July 2, 2017

Status Verified

February 3, 2009

First QC Date

August 1, 2006

Last Update Submit

June 30, 2017

Conditions

Lowe Syndrome

Keywords

Archived SamplesMutation ScreeningGenotype-Phenotype CorrelationPediatric Developmental DisorderCataractsMutation DetectionLowe SyndromeGenotype

Eligibility Criteria

Sexmale
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

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

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

National Institutes of Health Clinical Center, 9000 Rockville Pike

Bethesda, Maryland, 20892, United States

Location

MeSH Terms

Conditions

Oculocerebrorenal SyndromeCataract

Condition Hierarchy (Ancestors)

Brain Diseases, Metabolic, InbornBrain Diseases, MetabolicBrain DiseasesCentral Nervous System DiseasesNervous System DiseasesRenal Tubular Transport, Inborn ErrorsKidney DiseasesUrologic DiseasesFemale Urogenital DiseasesFemale Urogenital Diseases and Pregnancy ComplicationsUrogenital DiseasesMale Urogenital DiseasesAbnormalities, MultipleCongenital AbnormalitiesCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesGenetic Diseases, X-LinkedGenetic Diseases, InbornAmino Acid Transport Disorders, InbornMetabolism, Inborn ErrorsMetabolic DiseasesNutritional and Metabolic DiseasesLens DiseasesEye Diseases

Study Design

Study Type
observational
Sponsor Type
NIH

Study Record Dates

First Submitted

August 1, 2006

First Posted

August 2, 2006

Study Start

February 17, 2001

Study Completion

February 3, 2009

Last Updated

July 2, 2017

Record last verified: 2009-02-03

Locations

US(1)