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Clinical and Genetic Studies of Families with Congenital or Hereditary Cataracts Clinical Trials Info presented on Clinical Trials Search isn't intended to be a substitute for certified health advice, travels to or treatment by using a genuine physician. We are not physicians. Always consult your dr. on Clinical and Genetic Studies of Families with Congenital or Hereditary Cataracts conditions. Clinical Trials Search.org is a site committed to listing clinical research studies in human subjects. Clinical and Genetic Studies of Families with Congenital or Hereditary Cataracts Clinical research trials and Clinical and Genetic Studies of Families with Congenital or Hereditary Cataracts health trials occur in hundreds of cities throughout the U.S.A.. A clinical trial or clinical study is a research project with human volunteer subjects. Clinical drug trials and pharmaceutical clinical trials typically assess the effectivity of new drugs. The propose of the studies / undertakings is to resolve certain human health questions. Clinical trials are a popular means for physicians, government agencies, and private sector companies to locate treatments for all sorts of conditions, including Clinical and Genetic Studies of Families with Congenital or Hereditary Cataracts. Clinical and Genetic Studies of Families with Congenital or Hereditary Cataracts Clinical Trials and other clinical trials permit volunteers to acquire medical treatment choices before they are available to the masses. Some times the test subjects obtain professional assistance for free, and every now and again they are compensated for their time. Sometimes there is a cost for a Clinical and Genetic Studies of Families with Congenital or Hereditary Cataracts clinical trial. Participants oftentimes recieve the most expert healthcare available for their Clinical and Genetic Studies of Families with Congenital or Hereditary Cataracts condition. Hazards are a reality, however, and can include extra or frequent physician visits, health risks (potentially life-endangering), and/or the treatment being uneffective. Trials are federally governed with rigorous guidelines to protect clinical trials subjects.
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Home > "C" Clinical Trials Conditions > Clinical and Genetic Studies of Families with Congenital or Hereditary Cataracts  Clinical and Genetic Studies of Families with Congenital or Hereditary Cataracts
Clinical and Genetic Studies of Families with Congenital or Hereditary Cataracts
For Condition: Cataract
Status: Recruiting
Sponsor(s): National Eye Institute (NEI) ,
Synopsis: 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.
Details: 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. The number of subjects to be enrolled has no logical upper limit, but will be at least 250. Because a number of large studies are under consideration, we are requesting approval to study a maximum of 2,000 patients and family members. 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 and, where indicated, additional non-investigational 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 principle investigator is James Fielding Hejtmancik at the OMGS/OGVFB/NEI. Associate investigators at the OGVFB/NEI include Dr. Muriel Kaiser and Dr. Benjamin Rubin. Associate investigators at collaborating institutions include Dr. S. Riazuddin (Centre for Excellence in Molecular Biology, Lahore, Pakistan), Dr. Giovanni Maraini (University of Parma, Italy), Dr. Nathan Congdon (Johns Hopkins University), and Dr. Carlos Lopez-Otin, Oviedo Medical School, Oviedo, Spain.
Eligibility:
Study Type: Observational, Natural History
Minimum Age/Maximum Age: /
Genders: Both
Protocol Entry Criteria: INCLUSION CRITERIA: Patients that meet diagnostic criteria for inherited cataracts and their family members will be recruited from the NEI and collaborating clinics. Patients initially recruited under separate protocols may be added to this study if the informed consent documents they have signed include and are consistent with the procedure to be performed as part of this study and the patients have given consent for their samples to be used for future studies either unspecified or specific to cataracts.
Total Enrollment: 2000
Location and Contact Information:
National Eye Institute (NEI) *Recruiting*
Bethesda, Maryland, 20892
United States
Recruiting Patient and Public Liaison Office 1-800-411-1222
Additional Information:
Study ID Numbers: 030123; 03-EI-0123
Study Start Date: March 18, 2003
Record last reviewed: September 9, 2003
Additional information available at: clinicaltrials.gov
Clinicaltrials.gov Reference link: NCT00056771
Other Cataract Studies:
1. Pilot Study: Dynamic Light Scattering Device for Studying Early Changes in Cataract
2. Age-Related Macular Degeneration and Cataract
3. Randomized Trials of Vitamin Supplements and Eye Disease
4. Test of QLS Device to Detect Early Cataracts
5. Randomized Trial of Aspirin and Cataracts in U.S. Physicians
Related Studies:
Other Cataract Clinical Trials
Other Maryland Clinical Trials
Other Bethesda Clinical Trials
Clinical and Genetic Studies of Families with Congenital or Hereditary Cataracts
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