Studies in Families With Corneal Dystrophy or Other Inherited Corneal Diseases

This study is currently recruiting participants. (see Contacts and Locations)
Verified August 2014 by National Institutes of Health Clinical Center (CC)
Sponsor:
Information provided by:
National Institutes of Health Clinical Center (CC)
ClinicalTrials.gov Identifier:
NCT00357435
First received: July 26, 2006
Last updated: August 20, 2014
Last verified: August 2014

July 26, 2006
August 20, 2014
October 2003
Not Provided
Not Provided
Not Provided
Complete list of historical versions of study NCT00357435 on ClinicalTrials.gov Archive Site
Not Provided
Not Provided
Not Provided
Not Provided
 
Studies in Families With Corneal Dystrophy or Other Inherited Corneal Diseases
Clinical and Molecular Studies in Families With Corneal Dystrophy or Other Inherited Corneal Diseases

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.

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.

Observational
Not Provided
Not Provided
Not Provided
Not Provided
Not Provided
  • Corneal Dystrophies, Hereditary
  • Corneal Disease
Not Provided
Not Provided

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruiting
2000
Not Provided
Not Provided
  • INCLUSION CRITERIA:

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

Both
4 Years and older
No
Contact: James F Hejtmancik, M.D. (301) 435-1598 f3h@helix.nih.gov
United States,   Italy,   China
 
NCT00357435
040008, 04-EI-0008
Not Provided
Not Provided
National Eye Institute (NEI)
Not Provided
Principal Investigator: James F Hejtmancik, M.D. National Eye Institute (NEI)
National Institutes of Health Clinical Center (CC)
August 2014

ICMJE     Data element required by the International Committee of Medical Journal Editors and the World Health Organization ICTRP