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Trial record 1 of 10 for:    coloboma
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Genetics of Uveal Coloboma

This study is currently recruiting participants.
Verified September 18, 2017 by National Institutes of Health Clinical Center (CC) ( National Eye Institute (NEI) )
Sponsor:
ClinicalTrials.gov Identifier:
NCT01778543
First Posted: January 29, 2013
Last Update Posted: October 19, 2017
The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details.
Information provided by (Responsible Party):
National Institutes of Health Clinical Center (CC) ( National Eye Institute (NEI) )
  Purpose

Background:

- Uveal coloboma is a condition where the eye does not form normally. It occurs early in the fetus s development during pregnancy. It can lead to different kinds of eye problems, including blindness. Several genes have been linked to coloboma, but the cause of most cases is hard to find. Researchers want to study the genes of people who have coloboma and genes from their close, unaffected relatives (such as parents and siblings).

Objectives:

- To study the genes associated with uveal coloboma.

Eligibility:

- Individuals at least 1 years of age who either have uveal coloboma or are an unaffected relative (such as a parent or sibling).

Design:

  • Participants will have a physical exam and medical history. They will also have a full eye exam.
  • Participants with uveal coloboma may have other exams, such as imaging studies and hearing assessments.
  • All participants will also provide blood and cheek swab or saliva samples for genetic testing.

Condition
Colobama

Study Type: Observational
Study Design: Observational Model: Cohort
Time Perspective: Prospective
Official Title: Genetics of Uveal Coloboma

Resource links provided by NLM:


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

Primary Outcome Measures:
  • The tests, data, and samples collected will be analyzed to better understand the genetics of uveal coloboma. [ Time Frame: 3 years and end of study ]

Estimated Enrollment: 240
Study Start Date: January 26, 2013
Estimated Study Completion Date: December 3, 2018
Estimated Primary Completion Date: December 3, 2018 (Final data collection date for primary outcome measure)
Detailed Description:

Objective:

The objectives of this study are to 1) define ocular and systemic associations in a cohort of well-phenotyped participants with uveal coloboma, 2) define risk factors and microforms of coloboma in relatives of affected individuals and 3) establish a repository of DNA and/or lymphoblastoid cell lines from participants with uveal coloboma and their relatives for use in laboratory investigations.

Study Population:

Two hundred and forty (240) individuals of at least one year of age with documented uveal coloboma and their relatives will be enrolled.

Design:

This is a natural history/genetic repository study. Two hundred and forty (240) participants will be enrolled over four years. Participants will undergo a complete age-appropriate baseline eye examination and physical examination and provide a blood or buccal cell sample.

Outcome Measures:

The tests, data, and samples collected will be analyzed to better understand the genetics of uveal coloboma. In particular, ocular and systemic associations will be defined in a cohort of well-phenotyped participants with uveal coloboma, as will the risk factors and microforms of coloboma in relatives of affected individuals.

  Eligibility

Information from the National Library of Medicine

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Ages Eligible for Study:   1 Year and older   (Child, Adult, Senior)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Criteria
  • INCLUSION CRITERIA:

The participant must be one year of age or older.

The participant must be able to cooperate with an age-appropriate eye examination.

The participant must be able to provide a blood or saliva sample.

The participant must be able to understand and sign this protocol s informed consent form OR have a legal parent/guardian with the ability to do the same.

The participant must either:

be affected by uveal coloboma OR

be an asymptomatic relative of an affected individual.

Participants will be considered to be affected by uveal coloboma if they have a clear ocular phenotype related to uveal coloboma or if they are deemed affected by other clinical evaluations (e.g., the presence of a unique, systemic manifestation cosegregating with coloboma, or a rare or unique kidney finding).

  Contacts and Locations
Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT01778543


Contacts
Contact: Daniel W Claus, R.N. (301) 496-9058 daniel.claus@nih.gov

Locations
United States, Maryland
National Institutes of Health Clinical Center, 9000 Rockville Pike Recruiting
Bethesda, Maryland, United States, 20892
Contact: For more information at the NIH Clinical Center contact Patient Recruitment and Public Liaison Office (PRPL)    800-411-1222 ext TTY8664111010    prpl@mail.cc.nih.gov   
Sponsors and Collaborators
National Eye Institute (NEI)
Investigators
Principal Investigator: Brian P Brooks, M.D. National Eye Institute (NEI)
  More Information

Additional Information:
Publications:
Responsible Party: National Eye Institute (NEI)
ClinicalTrials.gov Identifier: NCT01778543     History of Changes
Other Study ID Numbers: 130049
13-EI-0049
First Submitted: January 26, 2013
First Posted: January 29, 2013
Last Update Posted: October 19, 2017
Last Verified: September 18, 2017

Keywords provided by National Institutes of Health Clinical Center (CC) ( National Eye Institute (NEI) ):
Coloboma

Additional relevant MeSH terms:
Coloboma
Eye Abnormalities
Eye Diseases
Congenital Abnormalities