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Correlation of Gene Abnormalities and Clinical Manifestations of Aniridia

Primary Purpose

Aniridia

Status
Completed
Phase
Locations
United States
Study Type
Observational
Intervention
Sponsored by
National Eye Institute (NEI)
About
Eligibility
Locations
Outcomes
Full info

About this trial

This is an observational trial for Aniridia focused on measuring Aniridia, PAX6, Keratopathy, Limbal Stem Cell Deficiency, Molecular Genetics

Eligibility Criteria

4 Years - undefined (Child, Adult, Older Adult)All SexesDoes not accept healthy volunteers

Patients that meet diagnostic criteria for aniridia will be recruited from the NEI and Collaborating clinics. While diagnosis of aniridia is not expected to create significant difficulty, every attempt will be made to document the clinical status of each family member included in the study, and to document the clinical syndrome in at least one affected individual by slit lamp photography. A total of 100 subjects will be recruited for this study. There are no specific exclusion criteria other than young age (less than 4 years old) which may pose difficulty in obtaining blood.

Sites / Locations

  • University of Chicago
  • National Institutes of Health Clinical Center, 9000 Rockville Pike
  • University of Cincinnati

Outcomes

Primary Outcome Measures

Secondary Outcome Measures

Full Information

First Posted
December 14, 2005
Last Updated
June 30, 2017
Sponsor
National Eye Institute (NEI)
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1. Study Identification

Unique Protocol Identification Number
NCT00265590
Brief Title
Correlation of Gene Abnormalities and Clinical Manifestations of Aniridia
Official Title
Phenotype-Genotype Correlation in Aniridia
Study Type
Observational

2. Study Status

Record Verification Date
October 3, 2008
Overall Recruitment Status
Completed
Study Start Date
December 7, 2005 (undefined)
Primary Completion Date
undefined (undefined)
Study Completion Date
October 3, 2008 (undefined)

3. Sponsor/Collaborators

Name of the Sponsor
National Eye Institute (NEI)

4. Oversight

5. Study Description

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.
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 OMGS/OGVFB/NEI and Chi-Chao Chan, LI/NEI. Associate Investigators at collaborating institutions include Edward Holland (University of Cincinnati) and Ali Djalilian (University of Illinois, Chicago).

6. Conditions and Keywords

Primary Disease or Condition Being Studied in the Trial, or the Focus of the Study
Aniridia
Keywords
Aniridia, PAX6, Keratopathy, Limbal Stem Cell Deficiency, Molecular Genetics

7. Study Design

Enrollment
100 (false)

10. Eligibility

Sex
All
Minimum Age & Unit of Time
4 Years
Accepts Healthy Volunteers
No
Eligibility Criteria
Patients that meet diagnostic criteria for aniridia will be recruited from the NEI and Collaborating clinics. While diagnosis of aniridia is not expected to create significant difficulty, every attempt will be made to document the clinical status of each family member included in the study, and to document the clinical syndrome in at least one affected individual by slit lamp photography. A total of 100 subjects will be recruited for this study. There are no specific exclusion criteria other than young age (less than 4 years old) which may pose difficulty in obtaining blood.
Facility Information:
Facility Name
University of Chicago
City
Chicago
State/Province
Illinois
ZIP/Postal Code
60637
Country
United States
Facility Name
National Institutes of Health Clinical Center, 9000 Rockville Pike
City
Bethesda
State/Province
Maryland
ZIP/Postal Code
20892
Country
United States
Facility Name
University of Cincinnati
City
Cincinnati
State/Province
Ohio
ZIP/Postal Code
45267
Country
United States

12. IPD Sharing Statement

Citations:
PubMed Identifier
6330922
Citation
Nelson LB, Spaeth GL, Nowinski TS, Margo CE, Jackson L. Aniridia. A review. Surv Ophthalmol. 1984 May-Jun;28(6):621-42. doi: 10.1016/0039-6257(84)90184-x.
Results Reference
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PubMed Identifier
868970
Citation
Elsas FJ, Maumenee IH, Kenyon KR, Yoder F. Familial aniridia with preserved ocular function. Am J Ophthalmol. 1977 May;83(5):718-24. doi: 10.1016/0002-9394(77)90139-8.
Results Reference
background
PubMed Identifier
1463039
Citation
Mintz-Hittner HA, Ferrell RE, Lyons LA, Kretzer FL. Criteria to detect minimal expressivity within families with autosomal dominant aniridia. Am J Ophthalmol. 1992 Dec 15;114(6):700-7. doi: 10.1016/s0002-9394(14)74048-6.
Results Reference
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Learn more about this trial

Correlation of Gene Abnormalities and Clinical Manifestations of Aniridia

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