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Family Myopia Study
This study has been completed.
Sponsored by: National Human Genome Research Institute (NHGRI)
Information provided by: National Institutes of Health Clinical Center (CC)
ClinicalTrials.gov Identifier: NCT00341549
  Purpose

This study will try to identify the gene or genes responsible for myopia (nearsightedness) and to examine the relationship between myopia and near work. Myopia is the most common eye disorder in the world, affecting one in four Americans. Several studies indicate that myopia is inherited. The condition tends to cluster in families, so that studying families with this condition may facilitate finding the exact cause.

Caucasian Americans and African Americans with myopia who are in general good health may be eligible for this study. People with a family history of myopia through several generations along one parent's side only, and in which more than one sibling has myopia are preferred. People who have severe diseases that involve myopia, such as Stickler's or Marfan syndromes, retinitis pigmentosa or diabetic retinopathy may not participate.

Participants will undergo the following tests and procedures:

  • Eye examination, including refraction
  • Blood draw for genetic studies and possibly establishment of cell lines (collection of cells grown in the laboratory from an original tissue specimen) for future research
  • Myopia Family Study Questionnaire and personal medical information questionnaire to provide information about other medical conditions that may influence the development of myopia; the vision status of their spouse and children, parents and siblings, and spouse's parents and siblings
  • Risk Factor Questionnaire (for Jewish Orthodox community only) to assess the amount of near work activity done in childhood

Condition
Myopia

U.S. FDA Resources
Study Type: Observational
Official Title: Family Myopia Study

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

Estimated Enrollment: 10000
Study Start Date: April 2002
Detailed Description:

Myopia or nearsightedness, a condition that results in the inability to see distant objects clearly, affects one in four Americans and is the most common eye disorder in the world with an enormous public health and economic impact. Depending on epidemiologic definition, 3-19% of acquired blindness has been ascribed to myopia. Considerable evidence suggests that myopia is a complex disorder mediated by both genetic mechanisms and environmental influences. Genetic epidemiological analyses in various populations have consistently yielded high heritability estimates (greater than 50%) for ocular refraction phenotypes. Since myopia tends to cluster in families, studying families with myopia affords the opportunity to identify genes responsible for the pathogenesis of myopia. These genes could provide molecular tools for investigating inherited myopia and refractive error and may help elucidate the mechanisms by which environmental and behavioral factors influence the progression of myopia. The goal of this proposal is to identify regions of the human genome that contain the genes responsible for non-syndromic myopia utilizing pedigrees identified by the Myopia Family Study (MFS) and genotypes generated by Dr. Dwight Stambolian's laboratory at the University of Pennsylvania as well as by the Center for Inherited Disease Research. Pedigree collection is ongoing in several geographic regions including Lakewood, NJ, for the collection of Orthodox Jewish families; Lancaster County, PA for the collection of Amish families; and Philadelphia, for recruitment of families of African American, Caucasian and Chinese ethnicities. All data collection is directed by Dr. Stambolian and funded by his grant from the NEI; no NHGRI funds are being used for data collection, and NHGRI investigators have no contact with study subjects. In addition to the MFS data, we will analyze existing data on myopia, hyperopia and ocular refraction from the Framingham Eye Study (FES) which is a substudy of the well-known Framingham Heart Study (FHS). We will perform both linkage and association analyses of these data for comparison to the results found in the MFS datasets. Because myopia is a complex disorder that is likely to be caused by multiple loci, multiple parametric and non-parametric methods of analyses will be employed. Heterogeneity will be taken into account during these analyses, as will environmental covariates, such as the effect of near work, when possible.

  Eligibility

Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   Yes
Criteria
  • INCLUSION CRITERIA:

The subject population will be adult individuals and their children, in good health with the exception of myopia.

Subjects will be chosen based upon vision history of their extended family.

Preferred subjects will be those who have a family in which myopia passes through several generations along one parent's side only, in which more than one sibling is affected with myopia, but in which no more than one parent is affected.

Specific eligibility requirements for the index case include:

  1. Cycloplegic refraction of -1.00 spherical equivalent (as long as there was -1.00D or higher in each meridian if astigmatism is present) or worse in both eyes in those under age 50 to be considered myopic;
  2. Manifest refraction of -1.00 spherical equivalent (as long as there was -1.00D or higher in each meridian if astigmatism is present) or worse in both eyes in those over age 50 to be considered myopic;
  3. No history of systemic or ocular disease which might predispose to myopia including premature birth;
  4. The index case should have a familial history of myopia in either their parents or children or other close relatives (suggesting a genetic influence);
  5. In the event that the parents of the index case have myopia, it is preferred that only one parent be affected with myopia.

Some of these bilineal families may be collected if necessary to achieve the desired sample size, but unilateral families are preferred.

EXCLUSION CRITERIA:

Excluded from the University of Pennsylvania study are those who have severe diseases that involve myopia, such as Stickler's or Marfan syndromes, ocular disease such as Retinitis Pigmentosa, and those with diseases that may secondarily cause myopia such as diabetes or retinopathy of prematurity. Records of eye examinations obtained prior to the onset of systemic or ocular disease will be accepted.

Individuals who complete the Risk Factor Questionnaire and who state that they were born more than a month prematurely will not be included in the study.

Individuals who are myopic in one eye and unaffected in the other (ulnilateral myopes) will not be included in the study.

Individuals who do not sign the Consent Form will be excluded, and families for whom all necessary members do not sign the Consent Form will be excluded.

No fetuses, pregnant women, prisoners or other institutionalized individuals will be enrolled.

Generally, myopia itself is not associated with mental impairment, although careful consideration will be given to determining the cognitive understanding of any such potentially impaired person appropriate for enrollment in order to assure that protection of human rights is optimized.

  Contacts and Locations
Please refer to this study by its ClinicalTrials.gov identifier: NCT00341549

Locations
United States, Massachusetts
Boston University
Boston, Massachusetts, United States, 02118-2354
United States, Pennsylvania
University of Pennsylvania
Philadelphia, Pennsylvania, United States, 19104-6056
Pennsylvania College of Optometry
Philadelphia, Pennsylvania, United States, 19141
Sponsors and Collaborators
  More Information

Publications:
Study ID Numbers: 999902191, 02-HG-N191
Study First Received: June 19, 2006
Last Updated: September 19, 2008
ClinicalTrials.gov Identifier: NCT00341549  
Health Authority: United States: Federal Government

Keywords provided by National Institutes of Health Clinical Center (CC):
Linkage
Genetics
Mapping
Gene
Susceptibility
Myopia
Nearsightedness
Refraction
Eye

Study placed in the following topic categories:
Disease Susceptibility
Eye Diseases
Genetic Predisposition to Disease
Myopia
Refractive Errors

ClinicalTrials.gov processed this record on January 16, 2009