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Family Studies of Uveal Coloboma

NCT ID: NCT00368004

Last Updated: 2019-12-17

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

TERMINATED

Total Enrollment

100 participants

Study Classification

OBSERVATIONAL

Study Start Date

2006-07-28

Study Completion Date

2013-04-15

Brief Summary

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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

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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.

Conditions

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Coloboma

Keywords

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Coloboma Genetics Optic Nerve Coloboma Chorioretinal Coloboma Iris Coloboma Uveal Coloboma

Eligibility Criteria

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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.
Maximum Eligible Age

100 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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National Eye Institute (NEI)

NIH

Sponsor Role lead

Principal Investigators

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Brian P Brooks, M.D.

Role: PRINCIPAL_INVESTIGATOR

National Eye Institute (NEI)

Locations

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National Institutes of Health Clinical Center, 9000 Rockville Pike

Bethesda, Maryland, United States

Site Status

Countries

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United States

References

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Maumenee IH, Mitchell TN. Colobomatous malformations of the eye. Trans Am Ophthalmol Soc. 1990;88:123-32; discussion 133-5. No abstract available.

Reference Type BACKGROUND
PMID: 2095017 (View on PubMed)

Ravine D, Ragge NK, Stephens D, Oldridge M, Wilkie AO. Dominant coloboma-microphthalmos syndrome associated with sensorineural hearing loss, hematuria, and cleft lip/palate. Am J Med Genet. 1997 Oct 17;72(2):227-36. doi: 10.1002/(sici)1096-8628(19971017)72:23.0.co;2-p.

Reference Type BACKGROUND
PMID: 9382148 (View on PubMed)

Zlotogora J, Legum C, Raz J, Merin S, BenEzra D. Autosomal recessive colobomatous microphthalmia. Am J Med Genet. 1994 Feb 1;49(3):261-2. doi: 10.1002/ajmg.1320490302.

Reference Type BACKGROUND
PMID: 8209881 (View on PubMed)

Other Identifiers

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06-EI-0230

Identifier Type: -

Identifier Source: secondary_id

060230

Identifier Type: -

Identifier Source: org_study_id