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How Does Your Genetic Make-up (Profile) Influence Your Glaucoma?

This study has been completed.
Jefferson Medical College of Thomas Jefferson University
Thomas Jefferson University
Information provided by (Responsible Party):
George L. Spaeth MD, Wills Eye Identifier:
First received: February 20, 2008
Last updated: November 17, 2016
Last verified: November 2016
Glaucoma is a group of diseases in which visual loss occurs because of damage to the optic nerve. Research has shown that certain genes may cause glaucoma in some cases. So far, research has only been able to find the genes responsible for glaucoma in a small percentage of people who have glaucoma. The purpose of this project is to study the genes in patients with and without glaucoma to find additional genes that may be responsible for causing glaucoma.

Primary Open Angle Glaucoma

Study Type: Observational
Study Design: Observational Model: Cohort
Time Perspective: Prospective
Official Title: Nuclear Genetic and Mitochondrial Influences in Glaucoma

Resource links provided by NLM:

Further study details as provided by George L. Spaeth MD, Wills Eye:

Primary Outcome Measures:
  • The investigators will quantify the spectrum of changes in mitochondrial respiration, relative mitochondrial DNA content, and oxidative stress associated with different types of glaucoma. [ Time Frame: one blood draw ]

Biospecimen Retention:   Samples With DNA
whole blood

Enrollment: 97
Study Start Date: March 2008
Study Completion Date: August 2009
Primary Completion Date: August 2009 (Final data collection date for primary outcome measure)
Primary Open Angle Glaucoma (POAG)
Controls (Normals, patients without glaucoma)

Detailed Description:
Four tubes of blood will be taken from 100 people. Of those, half will have primary open angle glaucoma (POAG) and the other half will be controls (normals), half will be caucasians and the other half will be african americans, half male and half female. All groups will have a routine ophthalmic eye exam, color vision, snellen vision, and visual field done.

Ages Eligible for Study:   40 Years and older   (Adult, Senior)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population
glaucoma clinic

Inclusion Criteria:

  • 40 yrs
  • Caucasian or African American
  • Male or female with POAG, PACG, PXFG,
  • Normal

Exclusion Criteria:

  • Other ophthamic co-morbidities
  • Other ethnic groups
  • Unable to understand and give informed consent
  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 identifier: NCT00626847

United States, Pennsylvania
Wills Eye Glaucoma Service
Philadelphia, Pennsylvania, United States, 19107
Sponsors and Collaborators
Wills Eye
Jefferson Medical College of Thomas Jefferson University
Thomas Jefferson University
Principal Investigator: George L Spaeth, MD Wills Eye Institute
  More Information

Responsible Party: George L. Spaeth MD, Director Glaucoma Research Center Wills Eye; Director Medical Research and Education Glaucoma Service Foundation Wills Eye; Esposito Research Professor, Thomas Jefferson University, Wills Eye Identifier: NCT00626847     History of Changes
Other Study ID Numbers: IRB#07-826
Study First Received: February 20, 2008
Last Updated: November 17, 2016
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Yes
Plan Description: Two manuscripts have been written and published.

Keywords provided by George L. Spaeth MD, Wills Eye:
primary open angle glaucoma
Nuclear Genetics
Mitochondrial DNA

Additional relevant MeSH terms:
Glaucoma, Open-Angle
Ocular Hypertension
Eye Diseases processed this record on September 19, 2017