Genetics of Uveal Coloboma

This study is currently recruiting participants.
Verified March 2014 by National Institutes of Health Clinical Center (CC)
Sponsor:
Information provided by (Responsible Party):
National Institutes of Health Clinical Center (CC) ( National Eye Institute (NEI) )
ClinicalTrials.gov Identifier:
NCT01778543
First received: January 26, 2013
Last updated: April 4, 2014
Last verified: March 2014
  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: 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):

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: December 2012
Estimated Study Completion Date: December 2016
Estimated Primary Completion Date: December 2016 (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

Ages Eligible for Study:   1 Year and older
Genders Eligible for Study:   Both
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
Please refer to this study by its ClinicalTrials.gov identifier: NCT01778543

Contacts
Contact: Delphine Blain, M.D. (301) 496-1410 dblain@mail.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
Investigators
Principal Investigator: Brian P Brooks, M.D. National Eye Institute (NEI)
  More Information

Additional Information:
Publications:
Responsible Party: National Institutes of Health Clinical Center (CC) ( National Eye Institute (NEI) )
ClinicalTrials.gov Identifier: NCT01778543     History of Changes
Other Study ID Numbers: 130049, 13-EI-0049
Study First Received: January 26, 2013
Last Updated: April 4, 2014
Health Authority: United States: Federal Government

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

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

ClinicalTrials.gov processed this record on April 16, 2014