Trial record 1 of 9 for:    "Aniridia" OR "aniridia"
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Correlation of Gene Abnormalities and Clinical Manifestations of Aniridia

This study has been completed.
Sponsor:
Information provided by:
National Institutes of Health Clinical Center (CC)
ClinicalTrials.gov Identifier:
NCT00265590
First received: December 14, 2005
Last updated: October 4, 2008
Last verified: October 2008
  Purpose

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.


Condition
Aniridia

Study Type: Observational
Official Title: Phenotype-Genotype Correlation in Aniridia

Resource links provided by NLM:


Further study details as provided by National Institutes of Health Clinical Center (CC):

Estimated Enrollment: 100
Study Start Date: December 2005
Estimated Study Completion Date: October 2008
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).

  Eligibility

Ages Eligible for Study:   4 Years and older
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
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.
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT00265590

Locations
United States, Illinois
University of Chicago
Chicago, Illinois, United States, 60637
United States, Maryland
National Institutes of Health Clinical Center, 9000 Rockville Pike
Bethesda, Maryland, United States, 20892
United States, Ohio
University of Cincinnati
Cincinnati, Ohio, United States, 45267
Sponsors and Collaborators
  More Information

Publications:
ClinicalTrials.gov Identifier: NCT00265590     History of Changes
Other Study ID Numbers: 060044, 06-EI-0044
Study First Received: December 14, 2005
Last Updated: October 4, 2008
Health Authority: United States: Federal Government

Keywords provided by National Institutes of Health Clinical Center (CC):
Aniridia
PAX6
Keratopathy
Limbal Stem Cell Deficiency
Molecular Genetics

Additional relevant MeSH terms:
Aniridia
Eye Abnormalities
Eye Diseases
Eye Diseases, Hereditary
Iris Diseases
Uveal Diseases
Congenital Abnormalities
Genetic Diseases, Inborn

ClinicalTrials.gov processed this record on September 22, 2014