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Trial record 2 of 6 for:    coloboma

Genetics of Uveal Coloboma

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ClinicalTrials.gov Identifier: NCT01778543
Recruitment Status : Recruiting
First Posted : January 29, 2013
Last Update Posted : November 8, 2019
Sponsor:
Information provided by (Responsible Party):
National Institutes of Health Clinical Center (CC) ( National Eye Institute (NEI) )

Brief Summary:

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, cheek swab or saliva or DNA samples for genetic testing.

Condition or disease
Colobama

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:

Six hundred (600) 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. Six hundred (600) participants will be enrolled over fifteen years. Participants will undergo a complete age-appropriate baseline eye examination and physical examination and provide a blood, buccal cell/saliva, or DNA 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.


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Study Type : Observational
Estimated Enrollment : 600 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: Genetics of Uveal Coloboma
Study Start Date : January 26, 2013
Estimated Primary Completion Date : December 3, 2019
Estimated Study Completion Date : December 3, 2019

Resource links provided by the National Library of Medicine





Primary Outcome Measures :
  1. 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 ]


Information from the National Library of Medicine

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

    1. The participant must be one year of age or older.
    2. The participant must be able to cooperate with an age-appropriate eye examination.
    3. The participant must be able to provide a blood or buccal/saliva sample.
    4. 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.
    5. 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).

EXCLUSION CRITERIA:

Participants who are NEI employees or subordinates or co-workers of an investigator will be excluded from this study.


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

Locations
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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 Office of Patient Recruitment (OPR)    800-411-1222 ext TTY8664111010    prpl@cc.nih.gov   
Sponsors and Collaborators
National Eye Institute (NEI)
Investigators
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Principal Investigator: Brian P Brooks, M.D. National Eye Institute (NEI)

Additional Information:
Publications:
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Responsible Party: National Eye Institute (NEI)
ClinicalTrials.gov Identifier: NCT01778543     History of Changes
Other Study ID Numbers: 130049
13-EI-0049
First Posted: January 29, 2013    Key Record Dates
Last Update Posted: November 8, 2019
Last Verified: June 25, 2019
Keywords provided by National Institutes of Health Clinical Center (CC) ( National Eye Institute (NEI) ):
Coloboma
Additional relevant MeSH terms:
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Coloboma
Eye Abnormalities
Eye Diseases
Eye Diseases, Hereditary
Congenital Abnormalities