NCT00357435

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.

Trial Health

90
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
86

participants targeted

Target at P50-P75 for all trials

Timeline
Completed

Started Oct 2003

Longer than P75 for all trials

Geographic Reach
3 countries

6 active sites

Status
completed

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Start

First participant enrolled

October 6, 2003

Completed
2.8 years until next milestone

First Submitted

Initial submission to the registry

July 26, 2006

Completed
1 day until next milestone

First Posted

Study publicly available on registry

July 27, 2006

Completed
10 years until next milestone

Study Completion

Last participant's last visit for all outcomes

July 21, 2016

Completed
Last Updated

December 12, 2019

Status Verified

July 21, 2016

First QC Date

July 26, 2006

Last Update Submit

December 11, 2019

Conditions

Corneal Dystrophies, HereditaryCorneal Disease

Keywords

CorneaGeneticsDystrophyGeneMappingMolecularBiettiFleckPositional CloningLinkage

Eligibility Criteria

Age4 Years+
Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

  • 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.

You may not qualify if:

  • Diseases, infections, or trauma that mimic corneal diseases.
  • Children requiring sedation for study procedures.

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (6)

Jules Stein Eye Institute, UCLA

Los Angeles, California, United States

Location

National Institutes of Health Clinical Center, 9000 Rockville Pike

Bethesda, Maryland, 20892, United States

Location

Cleveland Clinic

Cleveland, Ohio, United States

Location

University of Texas, Houston

Houston, Texas, 77030, United States

Location

Zhongshan Opthalmic Center

Guangzhou, China

Location

Seconda Universita degli

Naples, Italy

Location

Related Publications (3)

  • 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.

    PMID: 9873069BACKGROUND

  • 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.

    PMID: 9787106BACKGROUND

  • 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.

    PMID: 11001583BACKGROUND

MeSH Terms

Conditions

Corneal Dystrophies, HereditaryCorneal Diseases

Condition Hierarchy (Ancestors)

Eye DiseasesEye Diseases, HereditaryGenetic Diseases, InbornCongenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Officials

  • James F Hejtmancik, M.D.

    National Eye Institute (NEI)

    PRINCIPAL INVESTIGATOR

Study Design

Study Type
observational
Sponsor Type
NIH
Responsible Party
SPONSOR

Study Record Dates

First Submitted

July 26, 2006

First Posted

July 27, 2006

Study Start

October 6, 2003

Study Completion

July 21, 2016

Last Updated

December 12, 2019

Record last verified: 2016-07-21

Locations

CN(1)IT(1)US(4)