Clinical trial NCT01464710: Genetic Assessment of Early to Late Macular Degeneration Study
Official title: Genetic Assessment of Early to Late macuLar dEgeneration studY 2
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Age-related Macular Degeneration
Lead sponsor: University of California, San Diego
Sponsor class: OTHER
Collaborators: name: Genentech, Inc.
First posted: 2011-11-03
Enrollment: 170
Sex: ALL
Minimum age (years): 45
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Subjects with a diagnosis of advanced AMD in one eye (either CNV or geographic atrophy) and soft confluent drusen in the study eye OR subjects with bilateral large soft drusen.

Brief summary: The purpose of this study is to determine if polymorphisms at rs11200638 on HTRA1 and rs1061170 on CFH are associated with an accelerated progression to advanced AMD (wet AMD or GA) in patients with early AMD (soft confluent drusen\>120 microns ) in the study eye, and with either early AMD or advanced AMD in the non-study eye.

Detailed description: Age-related macular degeneration (AMD) is the leading cause of blindness in the developed world. To date, two major polymorphisms on the HTRA1 and CFH genes have been associated with AMD. Progression and vision loss need to be followed and treated promptly in order to preserve vision. This study will provide more information on the genetics of disease progression and may lead to future guidelines for patient follow-up and treatment.

This study consists of a blood draw and observation of eye conditions. Consented, enrolled patients will come in every four months as per standard of care. At each visit, visual acuity measurement, slit lamp exam, indirect ophthalmoscopy, fundus photos, and spectral domain optical coherence tomography will be performed. Every 8 months, or per standard of care, fluoroscein angiography will be performed. DNA extraction and genotyping will be performed, and correlations between HTRA1 and CFH genotypes and the progression to bilateral advanced AMD will be analyzed.

Eligibility criteria: Inclusion Criteria:

* Subjects will be eligible if the following criteria are met:
* Ability to provide written informed consent and comply with study assessments for the full duration of the study
* Age \> 45 years
* Disease related considerations
* Subjects with a diagnosis of advanced AMD in one eye (either CNV or geographic atrophy) and soft confluent drusen in the study eye OR subjects with bilateral large soft drusen.

Exclusion Criteria:

* Subjects with any other progressive retinal disease that may impair the physician's ability to assess the severity of AMD

Primary outcomes:
measure: To determine the allele frequency for patients that progress to bilateral advanced AMD in the study eye
timeFrame: 5 years
Secondary outcomes:
measure: To determine the allele frequency for patients that do not progress to bilateral advanced AMD in the study eye.
timeFrame: 5 years
Other outcomes:
Locations:
city: La Jolla
country: United States
facility: University of California, San Diego
state: California
city: Santa Barbara
country: United States
facility: California Retina Consultants
state: California
city: San Antonio
country: United States
facility: Medical Center Ophthalmology Associates
state: Texas
Study officials:
affiliation: University of California, San Diego
name: Henry Ferreyra, M.D
role: STUDY_CHAIR
References: