Trial record 12 of 123 for:    Open Studies | "Cataract"

Clinical and Genetic Studies of Families With Congenital or Hereditary Cataracts

This study is currently recruiting participants. (see Contacts and Locations)
Verified April 2014 by National Institutes of Health Clinical Center (CC)
Sponsor:
Information provided by:
National Institutes of Health Clinical Center (CC)
ClinicalTrials.gov Identifier:
NCT00056771
First received: March 22, 2003
Last updated: April 26, 2014
Last verified: April 2014
  Purpose

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
Cataract

Study Type: Observational
Study Design: Time Perspective: Prospective
Official Title: Clinical and Molecular Studies in Families With Congenital or Hereditary Cataracts

Resource links provided by NLM:


Further study details as provided by National Institutes of Health Clinical Center (CC):

Primary Outcome Measures:
  • statistically significant linkage

Estimated Enrollment: 5000
Study Start Date: March 2003
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.

  Eligibility

Ages Eligible for Study:   4 Years and older
Genders Eligible for Study:   Both
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
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT00056771

Contacts
Contact: James F Hejtmancik, M.D. (301) 435-1598 f3h@helix.nih.gov

Locations
United States, Maryland
National Institutes of Health Clinical Center, 9000 Rockville Pike Recruiting
Bethesda, Maryland, United States, 20892
Contact: For more information at the NIH Clinical Center contact Patient Recruitment and Public Liaison Office (PRPL)    800-411-1222 ext TTY8664111010    prpl@mail.cc.nih.gov   
China
Zhongshan Ophthalmic Center Recruiting
Guangzhou, China
India
Aravind Eye Hospital Recruiting
Maduri, India
Italy
University of Parma Recruiting
Parma, Italy
Pakistan
Centre for Excellence in Molecular Biology Recruiting
Lahore, Pakistan
Sponsors and Collaborators
Investigators
Principal Investigator: James F Hejtmancik, M.D. National Eye Institute (NEI)
  More Information

Additional Information:
Publications:
ClinicalTrials.gov Identifier: NCT00056771     History of Changes
Other Study ID Numbers: 030123, 03-EI-0123
Study First Received: March 22, 2003
Last Updated: April 26, 2014
Health Authority: United States: Federal Government

Keywords provided by National Institutes of Health Clinical Center (CC):
Cataract
Congenital Cataracts
Hereditary Cataracts

Additional relevant MeSH terms:
Cataract
Lens Diseases
Eye Diseases

ClinicalTrials.gov processed this record on July 20, 2014