Clinical and Genetic Studies of Families With Congenital or Hereditary Cataracts

Study Description

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Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information

Brief Summary:

This study will explore the clinical and hereditary (genetic) features of inherited cataracts. A cataract is a clouding of the eye lens, which focuses light on the back of the eye. When the lens becomes cloudy and does not let light through, vision is impaired. Cataracts may be associated with vision problems alone, or with other problems, such as changes in facial appearance or skin problems. A better understanding of these genetic conditions may help in the development of better diagnostic tests.

Patients with inherited cataracts and their family members may be eligible for this study. Participants will be drawn from patients enrolled in other studies of inherited cataracts 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 lens, tests of color vision and field of vision, and of the ability to see in the dark;
• Blood sample collection (20 ml, or 4 teaspoons) for genetic studies of hereditary cataracts.

Condition or disease
Cataract

Detailed Description:

Objective: This project, Clinical and Molecular Studies in Families with Congenital or Hereditary Cataracts will study the inheritance of genetic cataracts, both Mendelian and complex age related cataracts, in families of many nationalities and ethnic backgrounds in order to identify the genes that, when mutated, cause cataracts and the pathophysiology through which they act.

Study Population: Families of many nationalities and ethnic backgrounds. We will study a maximum or 5,000 patients and family members.

Design: The study consists of ascertaining individuals, and especially families with multiple individuals, affected by both congenital and age related cataracts. These patients and their families will undergo detailed ophthalmological examinations to characterize their cataracts 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 cataracts in this family. If necessary, the gene product will be characterized biochemically. The study will enroll subjects at NEI and collaborating institutions, the Centre for Excellence in Molecular Biology, Lahore, Pakistan, the Zhongshan Ophthalmic Center, Guangzhou, China, the Aravind Eye Hospital, Madurai, India, and the University of Parma, Italy and the All India Institute of Medical Sciences (AIIMS).

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.

Study Design

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Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information

Study Type :	Observational
Actual Enrollment :	3432 participants
Observational Model:	Cohort
Time Perspective:	Prospective
Official Title:	Clinical and Molecular Studies in Families With Congenital or Hereditary Cataracts
Study Start Date :	March 18, 2003
Study Completion Date :	May 25, 2016

Groups and Cohorts

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Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information

Outcome Measures

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Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information

Primary Outcome Measures :

1. statistically significant linkage

Eligibility Criteria

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Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information

Ages Eligible for Study:	4 Years and older (Child, Adult, Senior)
Sexes Eligible for Study:	All
Accepts Healthy Volunteers:	No

Criteria

• INCLUSION CRITERIA:

Subjects with the following will be recruited:

1. Individuals or family members of individuals with inherited cataracts, either congenital, childhood, or age related.
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:

1. Diseases, infections, or trauma that mimic inherited cataracts.
2. Children requiring sedation for study procedures.

Contacts and Locations

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Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information

Locations

United States, Maryland
National Institutes of Health Clinical Center, 9000 Rockville Pike
Bethesda, Maryland, United States, 20892
China
Zhongshan Ophthalmic Center
Guangzhou, China
India
Aravind Eye Hospital
Maduri, India
Italy
University of Parma
Parma, Italy
Pakistan
Centre for Excellence in Molecular Biology
Lahore, Pakistan

Sponsors and Collaborators

National Eye Institute (NEI)

Investigators

Principal Investigator:	James F Hejtmancik, M.D.	National Eye Institute (NEI)

More Information

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Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information

Publications:

Ostrovsky MA, Sergeev YV, Atkinson DB, Soustov LV, Hejtmancik JF. Comparison of ultraviolet induced photo-kinetics for lens-derived and recombinant beta-crystallins. Mol Vis. 2002 Mar 20;8:72-8.

Sheets NL, Chauhan BK, Wawrousek E, Hejtmancik JF, Cvekl A, Kantorow M. Cataract- and lens-specific upregulation of ARK receptor tyrosine kinase in Emory mouse cataract. Invest Ophthalmol Vis Sci. 2002 Jun;43(6):1870-5.

Chen WV, Fielding Hejtmancik J, Piatigorsky J, Duncan MK. The mouse beta B1-crystallin promoter: strict regulation of lens fiber cell specificity. Biochim Biophys Acta. 2001 May 28;1519(1-2):30-8.

Responsible Party:	National Eye Institute (NEI)
ClinicalTrials.gov Identifier:	NCT00056771 History of Changes
Other Study ID Numbers:	030123; 03-EI-0123
First Posted:	March 24, 2003
Last Update Posted:	April 5, 2018
Last Verified:	May 25, 2016

Keywords provided by National Institutes of Health Clinical Center (CC) ( National Eye Institute (NEI) ):

Cataract; Congenital Cataracts; Hereditary Cataracts

Additional relevant MeSH terms:

Cataract; Lens Diseases; Eye Diseases