SNPMiner Trials by Shray Alag

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SNPMiner SNPMiner Trials (Home Page)


Report for Mutation A4917G

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There is one clinical trial.

Clinical Trials


1 Evaluation of Wet Age-Related Macular Degeneration (AMD) Genetic Profile Interactions With Ranibizumab Treatment Outcomes

Age Related Macular Degeneration (AMD) is the leading cause of blindness in North America. This condition causes a progressive loss of central vision, the part of your vision that allows you to read, drive and see images in sharp detail directly in front of you. The wet form of AMD is characterized by the growth and leakage of small blood vessels into the choroid layer of the eye, or the back of the eye. These leaking blood vessels disrupt the structure and function of the eye, causing loss of vision, particularly the sharp vision created by the macula area of the eye. Currently, the best treatment for wet AMD is a series of injections of an anti-vascular endothelial growth factor (anti-VEGF) drug, ranibizumab (Lucentis). The clinical response to treatment is varied. Approximately 70% of patients see a moderate vision gain (3-line gain on a visual acuity chart), but there are 30% who do not see a similar improvement in vision. There is no way to identify those patients who will respond with significant vision gain versus those who will not experience moderate vision gain. Recent research into AMD has demonstrated that genetic mutations are proving to be key risk factors for patients developing wet AMD, with up to 80% of wet AMD cases explained by inherited genetic variations. Scientists have theorized that there may be a genetic difference between those patients who see significant responses to treatment and those who do not. The investigators will be testing participant's genetic profile using the Macula Risk test and following their progress through the standard treatment for wet AMD over the course of this study. This study aims to demonstrate the association between known genetic variations and patient responses to treatment.

NCT01363570
Conditions
  1. Age Related Macular Degeneration
Interventions
  1. Drug: Ranibizumab
MeSH:Macular Degeneration

Mean change in visual acuity according to individual mutations at the CFH haplotypes/C3 rs2230199 marker/ARMS2 rs10490924 marker and mt A4917G marker, calculated using the Macula Risk findings and visual acuity results as determined using ETDRS visual screening. --- A4917G ---

Primary Outcomes

Description: Percent probability gains in visual acuity will be assessed by comparing best corrected visual acuity at each follow up appointment by the standardized vision testing, early treatment diabetic retinopathy study (ETDRS) test. The ETDRS visual acuity test was first developed to effectively evaluate visual changes following panretinal photocoagulation in patients with diabetic retinopathy. This method of measuring visual acuity was more accurate than previous methods, and thus has become the global standard, especially for clinical trials where it is essential to have utmost accuracy.

Measure: Gains in visual acuity

Time: Baseline and months 1, 2, 3, 4, 5, and 6

Secondary Outcomes

Description: The changes in blood vessel lesion growth and activity will be measured by OCT (Ocular Coherence Tomography) and fundus fluoroscein angiography to assess choroidal neovascular leakage

Measure: Changes in choroid vessel activity in lesion growth and activity at choroid

Time: Baseline and months 1, 2, 3, 4, 5 and 6

Description: Measured at each appointment with a slit lamp examination

Measure: Rate of cataract progression

Time: Baseline and months 1, 2, 3, 4, 5, and 6

Description: The speed at which macular edema resolves will be visually measured using optical coherence tomography

Measure: Resolution of macular edema

Time: Baseline and months 1, 2, 3, 4, 5, 6

Description: Mean change in visual acuity according to individual mutations at the CFH haplotypes/C3 rs2230199 marker/ARMS2 rs10490924 marker and mt A4917G marker, calculated using the Macula Risk findings and visual acuity results as determined using ETDRS visual screening

Measure: Mean change in visual acuity according to identified genetic mutations

Time: Baseline and Months 1, 2, 3, 4, 5, 6

Measure: Mean change in visual acuity regardless of genetic profile results

Time: Baseline and Months 1, 2, 3, 4, 5, 6

Measure: Interaction of smoking status and genetic profile on visual acuity changes

Time: Baseline and Months 1, 2, 3, 4, 5, 6


HPO Nodes