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Sponsored by: |
National Eye Institute (NEI) |
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Information provided by: | National Institutes of Health Clinical Center (CC) |
ClinicalTrials.gov Identifier: | NCT00272376 |
This study will examine the inheritance of myopia in families of various nationalities and ethnic backgrounds to identify gene changes that cause myopia or similar diseases and to better understand these conditions. In patients with myopia, the eye does not focus light accurately on the retina (tissue that lines the back of the eye), so that objects at a distance appear blurry. Myopia may occur alone, with other vision problems such as retinal dislocations, cataract or glaucoma, or with other problems such as joint or skin problems.
People with myopia (usually those from families with several affected members) and control subjects with normal vision may be eligible for this study.
Each participant undergoes the following procedures:
Condition |
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Myopia |
Study Type: | Observational |
Official Title: | Clinical and Molecular Studies in Families With Myopia and Related Diseases |
Estimated Enrollment: | 2000 |
Study Start Date: | December 2005 |
Estimated Primary Completion Date: | June 2010 (Final data collection date for primary outcome measure) |
Objective: This project, Clinical and Molecular Studies in Families with Myopia and Related Diseases will study the inheritance of myopia in families of many nationalities and ethnic backgrounds in order to identify the genes that, when mutated, cause myopia, high myopia, or similar diseases and the pathophysiology through which they act.
Study Population: The number of subjects to be enrolled has no logical upper limit, but will be at least 250 and not more than 2000 during the next 5 years. The study consists of ascertaining individuals and especially families with multiple individuals, affected by myopia or related ocular diseases.
Design: These patients and their families will undergo detailed ophthalmological examinations and, where indicated, additional non-investigational examinations to characterize disease in their families and determine their affectation status. A blood sample will be collected from each individual for isolation of DNA and in some individual's biochemical studies or for lymphoblastoid transformation to establish a renewable source of DNA.
Linkage analysis, physical mapping, and mutational screening will be carried out to identify the specific the gene and the mutations in it that are associated with myopia in this family. If necessary, the gene product or blood sample will be characterized biochemically. The study will enroll subjects at the NEI and at collaborating centers including the Zhongshan Ophthalmic Center of Sun Yat-Sen University, Guangzhou, China.
Outcome Measures: Linkage will be determined using the lod score method and mutations in specific genes will be assessed using a combination of residue conservation, blosum score, and molecular modeling. Biochemical, metabolic, and physiological effects will be individualized to the specific assay.
Ages Eligible for Study: | 4 Years and older |
Genders Eligible for Study: | Both |
Accepts Healthy Volunteers: | No |
INCLUSION CRITERIA:
EXCLUSION CRITERIA:
Contact: Patient Recruitment and Public Liaison Office | (800) 411-1222 | prpl@mail.cc.nih.gov |
Contact: TTY | 1-866-411-1010 |
United States, Maryland | |
National Institutes of Health Clinical Center, 9000 Rockville Pike | Recruiting |
Bethesda, Maryland, United States, 20892 | |
China | |
Zhongshan Ophthalmic Center, Sun Yat-sen University | Recruiting |
Guangzho, China |
Study ID Numbers: | 060058, 06-EI-0058 |
Study First Received: | January 5, 2006 |
Last Updated: | August 24, 2009 |
ClinicalTrials.gov Identifier: | NCT00272376 History of Changes |
Health Authority: | United States: Federal Government |
Nearsightedness Molecular Genetics Positional Cloning Refraction Linkage |
Myopia High Myopia Myopia Nearsightedness |
Eye Diseases Myopia, Severe Myopia Refractive Errors |
Eye Diseases Myopia Refractive Errors |