Clinical and Genetic Studies of Families With Congenital or Hereditary Cataracts
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|ClinicalTrials.gov Identifier: NCT00056771|
Recruitment Status : Completed
First Posted : March 24, 2003
Last Update Posted : October 6, 2017
|First Submitted Date||March 22, 2003|
|First Posted Date||March 24, 2003|
|Last Update Posted Date||October 6, 2017|
|Start Date||March 18, 2003|
|Primary Completion Date||Not Provided|
|Current Primary Outcome Measures
||statistically significant linkage|
|Original Primary Outcome Measures||Not Provided|
|Change History||Complete list of historical versions of study NCT00056771 on ClinicalTrials.gov Archive Site|
|Current Secondary Outcome Measures||Not Provided|
|Original Secondary Outcome Measures||Not Provided|
|Current Other Outcome Measures||Not Provided|
|Original Other Outcome Measures||Not Provided|
|Brief Title||Clinical and Genetic Studies of Families With Congenital or Hereditary Cataracts|
|Official Title||Clinical and Molecular Studies in Families With Congenital or Hereditary Cataracts|
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:
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||Observational Model: Cohort
Time Perspective: Prospective
|Target Follow-Up Duration||Not Provided|
|Sampling Method||Not Provided|
|Study Population||Not Provided|
|Study Groups/Cohorts||Not Provided|
* Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
|Estimated Completion Date||May 25, 2016|
|Primary Completion Date||Not Provided|
Subjects with the following will be recruited:
|Ages||4 Years and older (Child, Adult, Senior)|
|Accepts Healthy Volunteers||No|
|Contacts||Contact information is only displayed when the study is recruiting subjects|
|Listed Location Countries||China, India, Italy, Pakistan, United States|
|Removed Location Countries||Israel|
|Other Study ID Numbers||030123
|Has Data Monitoring Committee||Not Provided|
|U.S. FDA-regulated Product||Not Provided|
|IPD Sharing Statement||Not Provided|
|Responsible Party||National Institutes of Health Clinical Center (CC) ( National Eye Institute (NEI) )|
|Study Sponsor||National Eye Institute (NEI)|
|PRS Account||National Institutes of Health Clinical Center (CC)|
|Verification Date||May 25, 2016|