Family Studies of Uveal Coloboma

ID: NCT00368004
Status: Terminated
Phase: N/A
Start Date: July 28, 2006
First Submitted: August 23, 2006
Last Updated: February 22, 2018
Results: N/A
Sponsors & Collaborators: National Eye Institute (NEI)
Location: United States
Conditions: Coloboma
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Study Description

Brief Summary

This study will identify the genes responsible for uveal coloboma, an abnormal development of the eye caused by incomplete closure of a normally-occurring gap in the eye (the optic fissure) after the fifth week of life in a human embryo. There have been studies of families in which more than one person has been affected by this disorder. Coloboma occurs in about 1 of 10,000 live births and may cause significant vision loss. Researchers seek a better understanding of the genes responsible for this disorder.

Adults and children who have more than one member of the family with uveal coloboma may be eligible for this study. Patients will undergo a detailed medical history and eye examination appropriate for their age. The pupils will be dilated, through the use of eye drops. Dilation will continue for 4 to 6 hours, and wearing of sunglasses can reduce temporary glare that many patients may experience in brightly lit areas. In addition, pictures will be taken of the front or back of the eye, a procedure that also involves dilation of the pupils. Patients who have coloboma will undergo a complete physical examination. Blood samples will be collected, with a total of about 2 tablespoons from patients ages 10 and older and about 1 teaspoon for each 5 pounds of body weight for younger patients. Also, patients with coloboma may be asked to undergo X-rays , ultrasound, or other tests that are medically indicated.

To have enough DNA to study, the researchers may create a cell line to grow more DNA. Laboratory samples will be coded so that there is no identifying information about participants in this study. No other testing or research will be done on blood samples collected unless patients give permission. The researchers will not provide information about patients' health to other people without your express permission.

Detailed Description

Objective: To describe phenotypes and find genes causing a developmental and potentially blinding eye condition, uveal coloboma.

Study population: Families where more than one family member has uveal coloboma. Both affected and genetically informative, unaffected members of the family will be recruited.

Design: Observational study.

Outcome measures: Clinical examination, genetic mapping and mutation identification.
Condition or disease Intervention/treatment Phase

Coloboma

N/A

Tracking Information

First Submitted DateAugust 23, 2006
Last Update Posted DateFebruary 22, 2018
Start DateJuly 28, 2006
Completion DateApril 15, 2013
Primary Completion DateN/A
Results First Submitted DateN/A
Received Results Disposit DateN/A

Current Primary Outcome Measures

Not Available

Original Primary Outcome Measures

Not Available

Current Secondary Outcome Measures

Not Available

Original Secondary Outcome Measures

Not Available

Study Design

Brief TitleFamily Studies of Uveal Coloboma
Official TitleFamily Studies of Uveal Coloboma
Brief Summary

This study will identify the genes responsible for uveal coloboma, an abnormal development of the eye caused by incomplete closure of a normally-occurring gap in the eye (the optic fissure) after the fifth week of life in a human embryo. There have been studies of families in which more than one person has been affected by this disorder. Coloboma occurs in about 1 of 10,000 live births and may cause significant vision loss. Researchers seek a better understanding of the genes responsible for this disorder.

Adults and children who have more than one member of the family with uveal coloboma may be eligible for this study. Patients will undergo a detailed medical history and eye examination appropriate for their age. The pupils will be dilated, through the use of eye drops. Dilation will continue for 4 to 6 hours, and wearing of sunglasses can reduce temporary glare that many patients may experience in brightly lit areas. In addition, pictures will be taken of the front or back of the eye, a procedure that also involves dilation of the pupils. Patients who have coloboma will undergo a complete physical examination. Blood samples will be collected, with a total of about 2 tablespoons from patients ages 10 and older and about 1 teaspoon for each 5 pounds of body weight for younger patients. Also, patients with coloboma may be asked to undergo X-rays , ultrasound, or other tests that are medically indicated.

To have enough DNA to study, the researchers may create a cell line to grow more DNA. Laboratory samples will be coded so that there is no identifying information about participants in this study. No other testing or research will be done on blood samples collected unless patients give permission. The researchers will not provide information about patients' health to other people without your express permission.

Detailed Description

Objective: To describe phenotypes and find genes causing a developmental and potentially blinding eye condition, uveal coloboma.

Study population: Families where more than one family member has uveal coloboma. Both affected and genetically informative, unaffected members of the family will be recruited.

Design: Observational study.

Outcome measures: Clinical examination, genetic mapping and mutation identification.

Study TypeObservational
Study PhaseN/A
Estimated Enrollment
100
Allocation
Not Available
Interventional Model
Not Available
Masking
Not Available
Primary Purpose
Not Available
Conditions
Coloboma
Target Follow-Up Duration N/A
Biospecimen:
N/A
Sampling MethodN/A
Study PopulationN/A
Intervention
Not Available
Study Groups/Cohorts
Not Available
Study Arms
Not Available
Arm Intervention/Treatment

Recruitment Information

Recruitment Status:Terminated
Enrollment100
Completion DateApril 15, 2013
Eligibility Criteria: - This study will enroll 120 adult and children members of families where more than one individual is reported to have coloboma. Affected and unaffected family members will be both enrolled.
INCLUSION CRITERIA:
1. The participant must have any recognizeable form of inherited coloboma.
2. The participant must be a genetically informative member of a family where more than one person is affected by typical uveal coloboma.
3. The participant must be able to comply with the protocol and provide a blood sample.
EXCLUSION CRITERIA:
1. The participant has any syndromic form of coloboma likely due to mutations in a known gene.
GenderAll
Age N/A to 100 Years
Accepts Healthy VolunteersNo
Contacts
Not Available
Listed Location Countries
United States

Administrative Information

NCT Number:NCT00368004
Other Study ID Numbers
060230
06-EI-0230
Has Data Monitoring CommitteeNo
U.S. FDA-regulated Product Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Device Product Not Approved or Cleared by U.S. FDA: No
IPD Sharing Statement
Not Available
Responsible PartyN/A
Study Sponsor
National Eye Institute (NEI)
Collaborators
Not Available
Investigators
Principal Investigator
Brian P Brooks, M.D.
National Eye Institute (NEI)