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Pathogenesis and Genetics of Microphthalmia, Anophthalmia and Uveal Coloboma (MAC)

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.
 
ClinicalTrials.gov Identifier: NCT01778543
Recruitment Status : Recruiting
First Posted : January 29, 2013
Last Update Posted : December 2, 2022
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
Coloboma

Detailed Description:

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

Study Population: Six hundred (600) individuals of at least one year of age with documented MAC and their relatives will be enrolled. A subset of approximately 100 participants who are eligible and interested will be referred to enroll in this study from the Microphthalmia, Anophthalmia, and Coloboma Genetic Epidemiology in Children (MAGIC Study) at Baylor University (Baylor Protocol # H-49046).

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 MAC. In particular, ocular and systemic associations will be defined in a cohort of well-phenotyped participants with MAC, as will the risk factors and microforms of these disorders in relatives of affected individuals.

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Study Type : Observational
Estimated Enrollment : 600 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: Pathogenesis and Genetics of Microphthalmia, Anophthalmia and Uveal Coloboma ( MAC)
Actual Study Start Date : January 8, 2013
Estimated Primary Completion Date : December 27, 2027
Estimated Study Completion Date : December 27, 2027


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



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.



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
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. A subset of approximately 100 participants who are eligible and interested will be referred to enroll in this study from the MAGIC Study at Baylor University.
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 or be able to provide a copy of a complete eye examination report.
    3. The participant must be able to provide a blood, buccal/saliva or DNA sample.
    4. The participant must be able to understand and sign this protocol s informed consent form OR have a legal parent/guardian/representative with the ability to do the same.
    5. The participant must either:

      1. be affected by MAC(i) OR
      2. be an asymptomatic relative of an affected individual.

      (i)Participants will be considered to be affected if they have a clear ocular phenotype related to MAC or if they are deemed affected by other clinical evaluations (e.g., the presence of a unique, systemic manifestation cosegregating with MAC, 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) 451-1621 daniel.claus@nih.gov

Locations
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United States, Maryland
National Institutes of Health Clinical Center Recruiting
Bethesda, Maryland, United States, 20892
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:
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Responsible Party: National Eye Institute (NEI)
ClinicalTrials.gov Identifier: NCT01778543    
Other Study ID Numbers: 130049
13-EI-0049
First Posted: January 29, 2013    Key Record Dates
Last Update Posted: December 2, 2022
Last Verified: October 13, 2022
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Undecided

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by National Institutes of Health Clinical Center (CC) ( National Eye Institute (NEI) ):
Genetics
Repository
Advanced Retinal Disease
Natural History
Additional relevant MeSH terms:
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Coloboma
Microphthalmos
Anophthalmos
Eye Abnormalities
Eye Diseases
Eye Diseases, Hereditary
Congenital Abnormalities