Polymorphisms in the Human Matrix Metalloproteinase Genes MMP1, MMP3, and MMP9: Genetic Risk Factors of Primary Open Angle Glaucoma?

NCT00312403 | Completed DMC

• 1 other identifier: OPHT-300505
• Study Type: interventional
• Target: 400
• Locations: 1 country
• Sites: 1

Brief Summary

Matrix metalloproteinases (MMPs) fulfill diverse important molecular functions and play pivotal roles in development, tissue morphogenesis, repair, aging, and inflammatory processes. MMPs are also important disease modulating factors, such as cancer, cardiovascular disease, rheumatoid arthritis or macular degeneration. Functional genetic variants have been described to fine-tune MMP activities at the gene transcriptional level and have been associated with increased genetic risk of e.g. arteriosclerosis or cancer. MMPs are also assumed to play a major role in the remodeling of the extracellular matrix (ECM) in the optic nerve head during glaucomatous optic neuropathy. MMP-1, MMP-3 and MMP-9 have been shown to be up-regulated in a variety of animal models of glaucoma. Here, we study three promoter SNPs within the genes encoding three members of the MMP family. By assessing the prevalence of genetic variants associated with either increased/decreased enzyme activity, we will (i) estimate their contribution to the genetic risk of developing primary open angle glaucoma (POAG) and (ii) investigate the potential role of MMPs in the functional pathology of POAG.

Conditions

Glaucoma

Keywords

Glaucoma; Gene Polymorphism; Metalloproteinase

Outcome Measures

Primary Outcomes (1)

• Genotyping results and putatively associated odds with occurence of primary open angle glaucoma.

  15 minutes

Study Arms (2)

1

OTHER

Patients with primary open angle glaucoma

Procedure: Blood Sample

2

OTHER

Age- and sex-matched control subjects

Procedure: Blood Sample

Interventions

Blood Sample PROCEDURE

A single venous blood sample will be taken (10 ml).

1; 2

Eligibility Criteria

• Age: 40 Years+
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64), Older Adult (65+)

You may qualify if:

• Men and women older than 39 years
• Primary open angle glaucoma as evidenced from characteristic visual field loss and optic disc cupping (POAG group)
• Healthy subjects matched by age, sex and ethnicity to the POAG patients group (control group)

You may not qualify if:

• Exfoliation glaucoma, pigmentary glaucoma
• History of acute angle closure

Sponsors & Collaborators

• Medical University of Vienna: lead

Study Sites (1)

Department of Clinical Pharmacology

Vienna, 1090, Austria

Location

MeSH Terms

Conditions

Glaucoma

Interventions

Blood Specimen Collection

Condition Hierarchy (Ancestors)

Ocular Hypertension; Eye Diseases

Intervention Hierarchy (Ancestors)

Specimen Handling; Clinical Laboratory Techniques; Diagnostic Techniques and Procedures; Diagnosis; Punctures; Surgical Procedures, Operative; Investigative Techniques

Study Officials

• Gabriele Fuchsjaeger-Mayrl, M.D.

  Department of Clinical Pharmacology, Medical University of Vienna

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NON RANDOMIZED
• Masking: NONE
• Purpose: DIAGNOSTIC
• Intervention Model: PARALLEL
• Sponsor Type: OTHER

Study Record Dates

• First Submitted: April 6, 2006
• First Posted: April 10, 2006
• Study Start: November 1, 2005
• Primary Completion: November 1, 2009
• Study Completion: December 1, 2009
• Last Updated: January 15, 2010

Record last verified: 2010-01

Locations

AU (1)