Complement Factor H Haplotypes and Smoking in Age-related Macular Degeneration (CFH&AMD)

This study is currently recruiting participants. (see Contacts and Locations)
Verified July 2014 by Department of Veterans Affairs
Sponsor:
Information provided by (Responsible Party):
Department of Veterans Affairs
ClinicalTrials.gov Identifier:
NCT01115231
First received: April 15, 2010
Last updated: July 16, 2014
Last verified: July 2014
  Purpose

Risk factors for Age-related Macular Degeneration (AMD) involves genetic variations in the alternative pathway of complement inhibitor factor H. The complement system is part of the innate and adaptive immune system. Smoking is the only environmental factor known to increase the risk of Age-related Macular Degeneration (AMD). Using serum samples of Age-related Macular Degeneration (AMD) patients and controls we will test the hypothesis that smoking increases Age-related Macular Degeneration (AMD) by increasing complement activation; and that this is positively correlated with known disease variations in the complement factor H (CFH) gene.


Condition
Macular Degeneration

Study Type: Observational
Study Design: Observational Model: Cohort
Time Perspective: Prospective
Official Title: Complement Factor H Haplotypes and Smoking in Age-related Macular Degeneration

Resource links provided by NLM:


Further study details as provided by Department of Veterans Affairs:

Primary Outcome Measures:
  • Assessment of Age-related Macular Degeneration [ Time Frame: patients will be examined for AMD at a routine visit; if they present themselves with AMD or qualify as control, they will be recruited to the study. Information will be used in publication at the end of the 4-year study. ] [ Designated as safety issue: No ]

Secondary Outcome Measures:
  • Visual field test [ Time Frame: Visual field test will be part of the patient's routine eye exam to determine why they complain about vision loss. Information will be used in publication at the end of the 4-year study. ] [ Designated as safety issue: No ]
  • OCT [ Time Frame: OCT will be part of the patient's routine eye exam to determine why they complain about vision loss. Information will be used in publication at the end of the 4-year study. ] [ Designated as safety issue: No ]
  • Fluorescein Angiography [ Time Frame: Day 1 of study. ] [ Designated as safety issue: No ]
  • assessment of smoking status [ Time Frame: Day 1 of study ] [ Designated as safety issue: No ]
  • Eye exam with fundus photography [ Time Frame: Day 1 of study. ] [ Designated as safety issue: No ]
  • genotyping for signal nucleotide polymorphisms for I62V and Y402H in CFH gene [ Time Frame: within a month of obtaining blood sample ] [ Designated as safety issue: No ]
  • Complement pathway protein analysis [ Time Frame: within a month of obtaining blood sample ] [ Designated as safety issue: No ]

Biospecimen Retention:   Samples With DNA

Whole blood will be collected into dipotassium ethylenediaminetetraacetic acid (EDTA) tubes resulting in a final EDTA concentration of 4.5 mM. Plasma will be separated from whole blood by centrifugation (10 minutes at 3000 RPM) and frozen at -80 degrees C until further use. Subjects will be genotyped for signal nucleotide polymorphisms for I62V and Y402H using TaqMan single nucleotide polymorphisms (SNP) genotyping assays. Complement pathway protein analysis will be performed by ELISAs.


Estimated Enrollment: 300
Study Start Date: October 2010
Estimated Study Completion Date: September 2014
Estimated Primary Completion Date: September 2014 (Final data collection date for primary outcome measure)
Groups/Cohorts
Group 1
Case control subjects will be recruited (150 persons). Controls are subjects without AMD diagnosis
Group 2
Case (i.e., within 5 years) subjects will be recruited (150 persons). Cases are defined as subjects with diagnosed AMD.

  Show Detailed Description

  Eligibility

Ages Eligible for Study:   40 Years to 80 Years
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   Yes
Sampling Method:   Probability Sample
Study Population

The case and control subjects will be derived from a group of veterans at the Charleston, SC VA Medical Center.

Criteria

Inclusion Criteria:

  • Inclusion criteria for subjects will be a clear diagnosis of Age-related Macular Degeneration (AMD)
  • Inclusion criteria for controls will be less than five small (< 63 um) hard drusen
  • At least a 20/40 view of the fundus
  • The ability to provide a blood sample, and the absence of exclusion criteria listed

Exclusion Criteria:

  • We will exclude individuals with ocular diseases that might simulate Age-related Macular Dengeration (AMD) or preclude its diagnosis.
  • Those might include prior laser photocoagulation, cryopexy, media opacity, and inflammatory diseases.
  • It is important for potential control subjects not to exhibit media opacity (e.g., cataract), which will prevent visualization of the macula.
  • Also, subjects will be excluded if they exhibit diseases that phenotypically overlap with Age-related Macular Degeneration (AMD) such as drusen or pigmentary disturbance of the retinal pigment epithelium (RPE), or that provided insufficient evidence to diagnose Age-related Macular Degeneration (AMD).
  • In addition, subjects with pattern dystrophies, toxoplasmosis, histoplasmosis, degenerative myopia, central serous chorioretinopathy, or any disease or treatment that would diminish the ability to recognize drusen such as laser photocoagulation, prior retinal detachment surgery, posterior uveitis, and trauma will be excluded.
  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: NCT01115231

Contacts
Contact: Barbel M Rohrer, PhD (843) 792-5086 rohrer@musc.edu
Contact: John M Gross, MD (843) 609-7564 grossjd@musc.edu

Locations
United States, South Carolina
Ralph H Johnson VA Medical Center, Charleston Recruiting
Charleston, South Carolina, United States, 29401-5799
Contact: Barbel M Rohrer, PhD    843-792-5086    rohrer@musc.edu   
Principal Investigator: Barbel M. Rohrer, PhD         
United States, Texas
Michael E. DeBakey VA Medical Center, Houston, TX Recruiting
Houston, Texas, United States, 77030
Contact: Robert Coffee, MD    713-798-1414 ext 3717    rcoffee@bcm.edu   
Sponsors and Collaborators
Investigators
Principal Investigator: Barbel M. Rohrer, PhD Ralph H Johnson VA Medical Center, Charleston
  More Information

No publications provided

Responsible Party: Department of Veterans Affairs
ClinicalTrials.gov Identifier: NCT01115231     History of Changes
Other Study ID Numbers: C7428-R
Study First Received: April 15, 2010
Last Updated: July 16, 2014
Health Authority: United States: Federal Government

Keywords provided by Department of Veterans Affairs:
Age-Related Macular Degeneration
Age-Related Maculopathies
Age-Related Maculopathy
Macular Dystrophy
Maculopathies, Age-Related
Maculopathy, Age-Related

Additional relevant MeSH terms:
Macular Degeneration
Retinal Degeneration
Retinal Diseases
Eye Diseases
Complement Factor H
Complement Inactivating Agents
Immunosuppressive Agents
Immunologic Factors
Physiological Effects of Drugs
Pharmacologic Actions

ClinicalTrials.gov processed this record on September 22, 2014