Ignite Creation Date:
2024-05-05 @ 11:29 AM
Last Modification Date:
2024-10-26 @ 9:08 AM
Study NCT ID:
NCT00056771
Status:
COMPLETED
Last Update Posted:
2018-04-05
First Post:
2003-03-22
Brief Title:
Clinical and Genetic Studies of Families With Congenital or 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:
2016-05-25
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:
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
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
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 5000 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 Population Families of many nationalities and ethnic backgrounds We will study a maximum or 5000 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 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 |
|---|---|---|---|
| 03-EI-0123 | None | None | None |