Genetics of Uveal Coloboma

• ClinicalTrials.gov Identifier: NCT01778543
• Recruitment Status: Recruiting
• First Posted: January 29, 2013
• Last Update Posted: November 5, 2020
• Sponsor: National Eye Institute (NEI)
• Information provided by (Responsible Party): National Institutes of Health Clinical Center (CC) ( National Eye Institute (NEI) )

Study Description

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.

Study Design

• 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, 2028
• Estimated Study Completion Date: December 3, 2028

Groups and Cohorts

Group/Cohort
Coloboma; Participants with Coloboma and their family members.

Outcome Measures

Primary Outcome Measures :

1. The tests, data, and samples collected will be analyzed to better understand the genetics of uveal coloboma. [ Time Frame: end of study ]
   The tests, data, and samples collected will be analyzed to better understand the genetics of uveal coloboma.

Eligibility Criteria

• Ages Eligible for Study: 1 Year and older (Child, Adult, Older Adult)
• Sexes Eligible for Study: All
• Accepts Healthy Volunteers: No
• Sampling Method: Non-Probability Sample

Study Population

Participants will be ascertained through other pre-existing protocols, such as the NEI Ocular Natural History protocol (16-EI-0134), the NEI Screening protocol (08-EI-0102), through another similar, existing protocol or through referral from an outside clinician after a review of pertinent medical records. To increase minority enrollment, we will send a recruitment letter and flyer to ophthalmic and genetics clinics serving diverse and minority communities in the D.C. and Baltimore metropolitan areas and local clinics with whom we have ongoing relationships.

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.

Contacts and Locations

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 Office of Patient Recruitment (OPR) 800-411-1222 ext TTY8664111010 prpl@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:

NIH Clinical Center Detailed Web Page 

Publications:

Chang L, Blain D, Bertuzzi S, Brooks BP. Uveal coloboma: clinical and basic science update. Curr Opin Ophthalmol. 2006 Oct;17(5):447-70. Review.

Morlé L, Bozon M, Zech JC, Alloisio N, Raas-Rothschild A, Philippe C, Lambert JC, Godet J, Plauchu H, Edery P. A locus for autosomal dominant colobomatous microphthalmia maps to chromosome 15q12-q15. Am J Hum Genet. 2000 Dec;67(6):1592-7. Epub 2000 Oct 13.

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.

• Responsible Party: National Eye Institute (NEI)
• ClinicalTrials.gov Identifier: NCT01778543
• Other Study ID Numbers: 130049; 13-EI-0049
• First Posted: January 29, 2013
• Last Update Posted: November 5, 2020
• Last Verified: January 22, 2020

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

Genetics; Repository; Advanced Retinal Disease

Additional relevant MeSH terms:

Coloboma; Eye Abnormalities; Eye Diseases; Eye Diseases, Hereditary; Congenital Abnormalities