Ignite Creation Date:
2024-05-05 @ 11:21 AM
Last Modification Date:
2024-10-26 @ 9:02 AM
Study NCT ID:
NCT00001609
Status:
COMPLETED
Last Update Posted:
2008-03-04
First Post:
1999-11-03
Brief Title:
Studies of Families With Hereditary Cataracts
Sponsor:
National Eye Institute NEI
Organization:
National Institutes of Health Clinical Center CC
Study Overview
Official Title:
Clinical and Molecular Studies in Families With Congenital or Hereditary Cataracts
Status:
COMPLETED
Status Verified Date:
2003-03
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
Brief Summary:
The objective of this study is to discover the genes responsible for the development of hereditary cataracts in families A cataract is clouding of the lens of the eye that obstructs the passage of light and may impair vision Information from this study may provide a better understanding of why hereditary cataracts form and perhaps lead to the development of a test that can predict who will likely be affected and to what degree
Patients or family members of patients with inherited cataracts who participate in this study will be asked questions about their family history especially concerning eye disease or cataracts and a family tree will be drawn They will undergo a complete eye examination including photographs to document the clarity or opacity of the lens In addition a small blood sample will be drawn for use in gene mapping studies of inherited cataract
Patients or family members of patients with inherited cataracts who participate in this study will be asked questions about their family history especially concerning eye disease or cataracts and a family tree will be drawn They will undergo a complete eye examination including photographs to document the clarity or opacity of the lens In addition a small blood sample will be drawn for use in gene mapping studies of inherited cataract
Detailed Description:
Although the etiology of some secondary cataracts is becoming better understood and certain animal models have the promise to elucidate the relationships between lens crystallin and hereditary cataract little is known about the causes of congenital cataracts in humans Even the classification of different types of cataracts is cumbersome and imperfect A better understanding of cataractogenesis will come through an understanding of the molecular components of the lens of the eye and the ways in which lesions of these components are manifested structurally and functionally as opacity of the lens It is well known that cataracts exhibit marked genetic heterogeneity In mice and humans hereditary cataracts have been shown to result from lesions at many distinct loci and those cataracts corresponding to one locus can be morphologically heterogeneous implying that environmental factors may modify the phenotype of the cataract which a molecular lesion causes Nonetheless molecular biological characterization of cataracts in the mouse and guinea pig has suggested that alterations in lens crystallins can cause hereditary cataracts making them reasonable candidate genes for causing hereditary cataracts in humans In addition it is apparent that hereditary lesions which mimic or contribute additively to environmental stresses known to cause cataracts might be candidate genes for causing hereditary cataracts This knowledge increases the feasibility of genetic linkage studies and provides a rationale basis on which to begin the molecular analysis of naturally occurring hereditary cataracts Therefore it is the purpose of this protocol to concentrate upon hereditary cataracts
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
None
Is a FDA Regulated Device?:
None
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None
Secondary IDs
| Secondary ID | Type | Domain | Link |
|---|---|---|---|
| 97-EI-0009 | None | None | None |