Studies in Families With Corneal Dystrophy or Other Inherited Corneal Diseases
NCT ID: NCT00357435
Last Updated: 2019-12-12
Study Results
The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.
Basic Information
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COMPLETED
86 participants
OBSERVATIONAL
2003-10-06
2016-07-21
Brief Summary
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Patients with corneal dystrophies and related corneal disease and their family members may be eligible for this study. Participants will be drawn from patients enrolled in other studies of corneal dystrophy at the NEI and collaborating clinics.
Participants will undergo the following tests and procedures:
* Medical and surgical history
* Verification of diagnosis
* Construction of a family tree regarding familial vision problems
* Complete eye examination, including dilation of the pupils and photography of the cornea, tests of color vision, field of vision, and the ability to see in the dark, and photographs of the eye.
* Blood sample collection to identify the genes responsible for corneal disease and ascertain how they cause disease.
Detailed Description
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Study Population: Families of many nationalities and ethnic backgrounds. We will study a maximum or 2,000 patients and family members.
Design: The study consists of ascertaining individuals, and especially families with multiple individuals, affected by corneal dystrophy and other inherited corneal diseases. These patients and their families will undergo detailed ophthalmological examinations to characterize their corneal disease and determine their affectation status. A blood sample will be collected from each individual for isolation of DNA and in some individuals 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 corneal disease in this family. If necessary, the gene product will be characterized biochemically. All associate investigators will carry out patient ascertainment, diagnosis, and sample referral, and in some cases molecular genetic analyses. The study will enroll subjects at NEI and collaborating institutions.
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.
Conditions
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Keywords
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Eligibility Criteria
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Inclusion Criteria
1. Individuals or family members of individuals with corneal dystrophies and related corneal diseases.
2. Adults must be capable of providing their own consent.
3. All subjects must be able to cooperate with study examination and phlebotomy.
4. Older than 4 years of age.
Exclusion Criteria
2. Children requiring sedation for study procedures.
4 Years
ALL
No
Sponsors
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National Eye Institute (NEI)
NIH
Responsible Party
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Principal Investigators
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James F Hejtmancik, M.D.
Role: PRINCIPAL_INVESTIGATOR
National Eye Institute (NEI)
Locations
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Jules Stein Eye Institute, UCLA
Los Angeles, California, United States
National Institutes of Health Clinical Center, 9000 Rockville Pike
Bethesda, Maryland, United States
Cleveland Clinic
Cleveland, Ohio, United States
University of Texas, Houston
Houston, Texas, United States
Zhongshan Opthalmic Center
Guangzhou, , China
Seconda Universita degli
Naples, , Italy
Countries
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References
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Klintworth GK, Sommer JR, Obrian G, Han L, Ahmed MN, Qumsiyeh MB, Lin PY, Basti S, Reddy MK, Kanai A, Hotta Y, Sugar J, Kumaramanickavel G, Munier F, Schorderet DF, El Matri L, Iwata F, Kaiser-Kupfer M, Nagata M, Nakayasu K, Hejtmancik JF, Teng CT. Familial subepithelial corneal amyloidosis (gelatinous drop-like corneal dystrophy): exclusion of linkage to lactoferrin gene. Mol Vis. 1998 Dec 31;4:31.
Lee J, Jiao X, Hejtmancik JF, Kaiser-Kupfer M, Chader GJ. Identification, isolation, and characterization of a 32-kDa fatty acid-binding protein missing from lymphocytes in humans with Bietti crystalline dystrophy (BCD). Mol Genet Metab. 1998 Oct;65(2):143-54. doi: 10.1006/mgme.1998.2723.
Jiao X, Munier FL, Iwata F, Hayakawa M, Kanai A, Lee J, Schorderet DF, Chen MS, Kaiser-Kupfer M, Hejtmancik JF. Genetic linkage of Bietti crystallin corneoretinal dystrophy to chromosome 4q35. Am J Hum Genet. 2000 Nov;67(5):1309-13. doi: 10.1016/S0002-9297(07)62960-7. Epub 2000 Sep 21.
Other Identifiers
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04-EI-0008
Identifier Type: -
Identifier Source: secondary_id
040008
Identifier Type: -
Identifier Source: org_study_id