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Studies in Families With Corneal Dystrophy or Other Inherited Corneal Diseases

Primary Purpose

Corneal Dystrophies, Hereditary, Corneal Disease

Status
Completed
Phase
Locations
International
Study Type
Observational
Intervention
Sponsored by
National Eye Institute (NEI)
About
Eligibility
Locations
Outcomes
Full info

About this trial

This is an observational trial for Corneal Dystrophies, Hereditary focused on measuring Cornea, Genetics, Dystrophy, Gene, Mapping, Molecular, Bietti, Fleck, Positional Cloning, Linkage

Eligibility Criteria

4 Years - undefined (Child, Adult, Older Adult)All SexesDoes not accept healthy volunteers

INCLUSION CRITERIA: Subjects with the following will be recruited: Individuals or family members of individuals with corneal dystrophies and related corneal diseases. Adults must be capable of providing their own consent. All subjects must be able to cooperate with study examination and phlebotomy. Older than 4 years of age. EXCLUSION CRITERIA: Diseases, infections, or trauma that mimic corneal diseases. Children requiring sedation for study procedures.

Sites / Locations

  • Jules Stein Eye Institute, UCLA
  • National Institutes of Health Clinical Center, 9000 Rockville Pike
  • Cleveland Clinic
  • University of Texas, Houston
  • Zhongshan Opthalmic Center
  • Seconda Universita degli

Outcomes

Primary Outcome Measures

Secondary Outcome Measures

Full Information

First Posted
July 26, 2006
Last Updated
December 11, 2019
Sponsor
National Eye Institute (NEI)
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1. Study Identification

Unique Protocol Identification Number
NCT00357435
Brief Title
Studies in Families With Corneal Dystrophy or Other Inherited Corneal Diseases
Official Title
Clinical and Molecular Studies in Families With Corneal Dystrophy or Other Inherited Corneal Diseases
Study Type
Observational

2. Study Status

Record Verification Date
July 21, 2016
Overall Recruitment Status
Completed
Study Start Date
October 6, 2003 (undefined)
Primary Completion Date
undefined (undefined)
Study Completion Date
July 21, 2016 (undefined)

3. Sponsor/Collaborators

Responsible Party, by Official Title
Sponsor
Name of the Sponsor
National Eye Institute (NEI)

4. Oversight

5. Study Description

Brief Summary
This study will explore the clinical and hereditary (genetic) features of corneal dystrophy and other inherited corneal disease. Corneal dystrophy is clouding of the cornea - the transparent part of the eye covering the iris and pupil that passes light to the back of the eye. When the cornea becomes cloudy, interfering with the passage of light, vision may be impaired or lost. Corneal problems may occur with vision problems alone, or with other problems, such as changes in facial appearance or bone or joint problems. A better understanding of these genetic conditions may help in the development of better diagnostic tests and methods of disease management. 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
Objective: This project, Clinical and Molecular Studies in Families With Corneal Dystrophy or Other Inherited Corneal Diseases will study the inheritance of corneal dystrophy and other inherited corneal diseases, both Mendelian and complex in order to identify the genes that, when mutated, cause corneal disease and the pathophysiology through which they act. 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.

6. Conditions and Keywords

Primary Disease or Condition Being Studied in the Trial, or the Focus of the Study
Corneal Dystrophies, Hereditary, Corneal Disease
Keywords
Cornea, Genetics, Dystrophy, Gene, Mapping, Molecular, Bietti, Fleck, Positional Cloning, Linkage

7. Study Design

Enrollment
86 (Actual)

10. Eligibility

Sex
All
Minimum Age & Unit of Time
4 Years
Accepts Healthy Volunteers
No
Eligibility Criteria
INCLUSION CRITERIA: Subjects with the following will be recruited: Individuals or family members of individuals with corneal dystrophies and related corneal diseases. Adults must be capable of providing their own consent. All subjects must be able to cooperate with study examination and phlebotomy. Older than 4 years of age. EXCLUSION CRITERIA: Diseases, infections, or trauma that mimic corneal diseases. Children requiring sedation for study procedures.
Overall Study Officials:
First Name & Middle Initial & Last Name & Degree
James F Hejtmancik, M.D.
Organizational Affiliation
National Eye Institute (NEI)
Official's Role
Principal Investigator
Facility Information:
Facility Name
Jules Stein Eye Institute, UCLA
City
Los Angeles
State/Province
California
Country
United States
Facility Name
National Institutes of Health Clinical Center, 9000 Rockville Pike
City
Bethesda
State/Province
Maryland
ZIP/Postal Code
20892
Country
United States
Facility Name
Cleveland Clinic
City
Cleveland
State/Province
Ohio
Country
United States
Facility Name
University of Texas, Houston
City
Houston
State/Province
Texas
ZIP/Postal Code
77030
Country
United States
Facility Name
Zhongshan Opthalmic Center
City
Guangzhou
Country
China
Facility Name
Seconda Universita degli
City
Naples
Country
Italy

12. IPD Sharing Statement

Citations:
PubMed Identifier
9873069
Citation
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.
Results Reference
background
PubMed Identifier
9787106
Citation
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.
Results Reference
background
PubMed Identifier
11001583
Citation
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.
Results Reference
background

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Studies in Families With Corneal Dystrophy or Other Inherited Corneal Diseases

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