Ignite Creation Date:
2024-05-05 @ 12:10 PM
Last Modification Date:
2024-10-26 @ 9:21 AM
Study NCT ID:
NCT00265590
Status:
COMPLETED
Last Update Posted:
2017-07-02
First Post:
2005-12-14
Brief Title:
Correlation of Gene Abnormalities and Clinical Manifestations of Aniridia
Sponsor:
National Eye Institute NEI
Organization:
National Institutes of Health Clinical Center CC
Study Overview
Official Title:
Phenotype-Genotype Correlation in Aniridia
Status:
COMPLETED
Status Verified Date:
2008-10-03
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:
This study will examine specific gene changes in patients with aniridia a disease in which the iris colored part of the eye is absent or partially absent and will correlate the changes with clinical manifestations of the disease In aniridia the eye often appears to have no color but only a larger than normal pupil Patients may have impaired vision and cataracts glaucoma nystagmus rapid involuntary eye movements photophobia light sensitivity displaced lens underdeveloped retina and thickened cornea This study will focus particularly on corneal changes
Patients 4 years old and older with aniridia may be eligible for this study Candidates are screened with a family history and complete eye examination including the following
Visual acuity testing using a vision chart
Eye pressure measurement
Fundus photography to examine the back of the eye The pupils are dilated and special photographs of the inside of the eye are taken to evaluate the retina and measure changes that may occur over time The camera flashes a bright light into the eye for each picture
Slit lamp examination Evaluation of the front part of the eye with a special microscope called a slit lamp biomicroscope
Corneal thickness measurement
Participants have blood drawn for genetic testing related to aniridia Relevant medical information including disease severity and complications is obtained over time Family members may also be requested to provide blood samples for genetic testing
Patients 4 years old and older with aniridia may be eligible for this study Candidates are screened with a family history and complete eye examination including the following
Visual acuity testing using a vision chart
Eye pressure measurement
Fundus photography to examine the back of the eye The pupils are dilated and special photographs of the inside of the eye are taken to evaluate the retina and measure changes that may occur over time The camera flashes a bright light into the eye for each picture
Slit lamp examination Evaluation of the front part of the eye with a special microscope called a slit lamp biomicroscope
Corneal thickness measurement
Participants have blood drawn for genetic testing related to aniridia Relevant medical information including disease severity and complications is obtained over time Family members may also be requested to provide blood samples for genetic testing
Detailed Description:
This project Phenotype-Genotype Correlation in aniridia will study the specific mutations in patients with aniridia and attempt to make a phenotype-genotype correlation Specifically the study will determine whether specific mutations are more prevalent in aniridic patients who have a predominant involvement of the corneal epithelium A blood sample will be collected from each individual for isolation of DNA and the PAX6 gene will be sequenced and analyzed The principal investigator is Brian Brooks and the associated investigators are James Fielding Hejtmancik at the OMGSOGVFBNEI and Chi-Chao Chan LINEI Associate Investigators at collaborating institutions include Edward Holland University of Cincinnati and Ali Djalilian University of Illinois Chicago
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 |
|---|---|---|---|
| 06-EI-0044 | None | None | None |